Cited by 186Connective tissue disorders researchCollagen: Extraction and CharacterizationCellular Mechanics and Interactions

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From Structure to Phenotype: Impact of Collagen Alterations on Human Health

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Arseni, Lavinia, Lombardi, Anita, Orioli, Donata·2018·International Journal of Molecular Sciences

DOI 10.3390/ijms19051407PMC PMC5983607

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Abstract

The extracellular matrix (ECM) is a highly dynamic and heterogeneous structure that plays multiple roles in living organisms. Its integrity and homeostasis are crucial for normal tissue development and organ physiology. Loss or alteration of ECM components turns towards a disease outcome. In this review, we provide a general overview of ECM components with a special focus on collagens, the most abundant and diverse ECM molecules. We discuss the different functions of the ECM including its impact on cell proliferation, migration and differentiation by highlighting the relevance of the bidirectional cross-talk between the matrix and surrounding cells. By systematically reviewing all the hereditary disorders associated to altered collagen structure or resulting in excessive collagen degradation, we point to the functional relevance of the collagen and therefore of the ECM elements for human health. Moreover, the large overlapping spectrum of clinical features of the collagen-related disorders makes in some cases the patient clinical diagnosis very difficult. A better understanding of ECM complexity and molecular mechanisms regulating the expression and functions of the various ECM elements will be fundamental to fully recognize the different clinical entities.

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Figure 1 Schematic representation of the complex meshwork of proteins forming the extracellular matrix (ECM). The main ECM components, namely collagens, proteoglycans, hyaluronan, fibronectin, laminin and elastin, as well as the integrin ECM receptors, are depicted. The ECM provides mechanical support and anchoring for cells and tissues but it also acts as a reservoir of growth factors and cytokines and regulator of normal tissue development and homeostasis. Alterations in any of these functions result in a pathological status characterized by various tissue abnormalities.CC BY · PubMed Central

Figure 2 Schematic representation of collagen biosynthesis steps. The main biosynthesis steps of various collagen types are indicated. Green arrows highlight the contiguous processing steps whereas red arrows indicate the final step of collagen assembly into the different structural conformations. Coloured boxes on the right indicate potential alterations occurring during collagen processing at different steps, thus causing abnormalities in the structure and/or assembly. Abbreviations: NC, non-collagenous domain.CC BY · PubMed Central

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“Another family with one PPCD2 patient and few FECD cases, due to heterozygous missense mutation in COL8A2, has been described [139].”
Background
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.
Longo, I., Porcedda, P., Mari, F., Giachino, D., Meloni, I., Deplano, C., Brusco, A., Bosio, M., Massella, L., Lavoratti, G., et al. (2002) · Kidney International · doi:10.1046/j.1523-1755.2002.00379.x · Cited by 223 · cited 1×
“Autosomal recessive Alport syndrome presents as gross proteinuria in childhood and progression to end-stage kidney disease often before the fourth decade [120].”
Background
Variants in a Novel Epidermal Collagen Gene (COL29A1) Are Associated with Atopic Dermatitis
Söderhäll, C., Marenholz, I., Kerscher, T., Rüschendorf, F., Esparza-Gordillo, J., Worm, M., Grüber, C., Mayr, G., Albrecht, M., Rohde, K., et al. (2007) · PLoS Biology · doi:10.1371/journal.pbio.0050242 · Cited by 223 · cited 1×
“Lack of COL29A1 expression in the outer layers of the epidermis of ATOD patients points to a role of collagen XXIX in epidermal integrity, whose breakdown is a clinical hallmark of AD [160].”
Background
Collectins
van de Wetering, J. K., GOLDE, L. M. G. V., & Batenburg, J. J. (2004) · European Journal of Biochemistry · doi:10.1111/j.1432-1033.2004.04040.x · Cited by 221 · cited 1×
“Notably, collagen-like triple helical domains are found in several other proteins that do not have structural function and therefore are not considered as real collagens [65].”
Background
Cell-Matrix Interactions in Mammary Gland Development and Breast CancerPreprint
Muschler, J. L., & Streuli, C. H. (2010) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a003202 · Cited by 215 · cited 1×
“Alterations of ECM remodelling can also influence the course and progression of several other pathological conditions, including fibrosis, skin disorders and cancer [74].”
Background
Extracellular microfibrils: contextual platforms for TGFβ and BMP signaling
Ramirez, F., & Rifkin, D. B. (2009) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2009.05.005 · Cited by 207
Hyaluronan synthesis and degradation in cartilage and bone
Bastow, E. R., Byers, S., Golub, S. B., Clarkin, C. E., Pitsillides, A. A., & Fosang, A. (2007) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-007-7360-z · Cited by 201 · cited 1×
“Hyaluronidases are a family of enzymes capable of degrading HA [51].”
Background
A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.
Czarny‐Ratajczak, M., Lohiniva, J., Rogala, P., Kozłowski, K., Perälä, M., Carter, L., Spector, T., Kołodziej, L., Seppänen, U., Glazar, R., et al. (2001) · American Journal of Human Genetics · doi:10.1086/324023 · Cited by 198 · cited 1×
“The mother had the same mutation but she did not reveal any symptom before age 45 years [143]”
Background
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2
Leuchter, R. H., Alanay, Y., Bank, R. A., Campos‐Xavier, B., Zankl, A., Superti‐Furga, A., & Bonafé, L. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30231 · Cited by 189 · cited 1×
“Mutations in this gene affect the instalment and secretion of collagen fibres from osteoblasts [163].”
Background
Mutations in FKBP10 Cause Recessive Osteogenesis Imperfecta and Bruck Syndrome
Kelley, B., Malfait, F., Bonafė, L., Baldridge, D., Homan, E. P., Symoens, S., Willaert, A., Elcioglu, N., Maldergem, L. V., Verellen-Dumoulin, C., et al. (2010) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.250 · Cited by 186 · cited 1×
“All the others clinical data on the 29 patients with OI type XI (mutations in FKBP10) are limited and heterogeneous regarding the age of onset, the number of fractures, the type of affected bones and the severity of the disorder [88].”
Background
Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly
Yoneda, Y., Haginoya, K., Kato, M., Osaka, H., Yokochi, K., Arai, H., Kakita, A., Yamamoto, T., Otsuki, Y., Shimizu, S., et al. (2012) · Annals of Neurology · doi:10.1002/ana.23736 · Cited by 183 · cited 1×
“Affected individuals have delayed growth and development, hypotonia, spastic hemiplegia, seizures, migraine headaches, speech problems and intellectual disability with variable severity [126].”
Background
Phenotypic classification of male pseudohermaphroditism due to steroid 5α-reductase 2 deficiency
Sinnecker, G. H. G., Hiort, O., DIBBELT, L., Albers, N., Dörr, H. G., Hauß, H., Heinrich, U., Hemminghaus, M., Hoepffner, W., Holder, M., et al. (1996) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19960503)63:1 · Cited by 181
Interactions of the Amino-terminal Noncollagenous (NC1) Domain of Type VII Collagen with Extracellular Matrix Components
Chen, M., Marinkovich, M., Veis, A., Cai, X.-Y., Rao, C. N., O'Toole, E., & Woodley, D. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.23.14516 · Cited by 173 · cited 1×
“The anchoring filaments are assembled in an antiparallel manner, tail to tail with some C-terminal overlap [62,64].”
Background
Novel hepatocyte growth factor (HGF) binding domains on fibronectin and vitronectin coordinate a distinct and amplified Met-integrin induced signalling pathway in endothelial cells
Rahman, S., Patel, Y., Murray, J., Patel, K. V., Sumathipala, R., Sobel, M., & Wijelath, E. S. (2005) · BMC Cell Biology · doi:10.1186/1471-2121-6-8 · Cited by 173 · cited 1×
“Hepatocyte growth factor (HGF) binds to the 70 kDa N-terminal and the 40 kDa C-terminal fragments of fibronectin [15], whereas platelet-derived growth factor (PDGF) binds the type III and the variable domains of fibronectin [16].”
Background
Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia.
Knowlton, R., Katzenstein, P., Moskowitz, R., Weaver, E. J., Malemud, C., Pathria, M., Jimenez, S., & Prockop, D. (1990) · New England Journal of Medicine · doi:10.1056/nejm199002223220807 · Cited by 169 · cited 1×
“Several cases have been reported, included family members over various generations [95,100,101].”
Background
Collagenase: a key enzyme in collagen turnover
Shingleton, W. D., Cawston, T. E., Hodges, D. J., & Brick, P. (1996) · Biochemistry and Cell Biology · doi:10.1139/o96-083 · Cited by 166 · cited 1×
“Finally, lysosomes fuse together to generate large structures containing collagen and ECM fragments that undergo enzymatic digestion by cysteine cathepsins [72,73].”
Background
Plasmin activates pro‐matrix metalloproteinase‐2 with a membrane‐type 1 matrix metalloproteinase‐dependent mechanism
Monea, S., Lehti, K., Keski-oja, J., & Mignatti, P. (2002) · Journal of Cellular Physiology · doi:10.1002/jcp.10126 · Cited by 165 · cited 1×
“Upon activation, MMP-2 can degrade several collagen types, fibronectin, elastin as well as gelatin, the denatured form of collagen [69].”
Background
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
Baumann, M., Giunta, C., Krabichler, B., Rüschendorf, F., Zoppi, N., Colombi, M., Bittner, R. E., Quijano-Roy, S., Muntoni, F., Cirak, S., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.12.004 · Cited by 162 · cited 1×
“It catalyses the folding of COL3 and interacts with COL3, COL4 and COLX [165].”
Background
Inherited epidermolysis bullosa: new diagnostic criteria and classification.
Intong, L., & Murrell, D. (2012) · Clinical Dermatology · doi:10.1016/j.clindermatol.2011.03.012 · Cited by 159 · cited 1×
“Patients usually do not survive more than 30 years due to severe renal complications or aggressive squamous cell carcinoma arising in the areas of repeated scarring [154].”
Background
Proteolysis of subendothelial adhesive glycoproteins (fibronectin, thrombospondin, and von Willebrand factor) by plasmin, leukocyte cathepsin G, and elastase.
Bonnefoy, A., & Legrand, C. (2000) · Thrombosis Research · doi:10.1016/s0049-3848(99)00242-x · Cited by 158 · cited 1×
“Plasmin and elastase are serine proteinases, the first degrades fibrin, fibronectin and laminin [47], whereas the latter degrades fibronectin and elastin [48].”
Background
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies
Barat-Houari, M., Sarrabay, G., Gatinois, V., Fabre, A., Dumont, B., Geneviève, D., & Touitou, I. (2016) · Human Mutation · doi:10.1002/humu.22915 · Cited by 152 · cited 2×
“The cartilage appears as abnormal gelatinous texture and translucent [75].”
Background
Autosomal recessive cutis laxa syndrome revisited
Morava, E., Guillard, M., Lefeber, D., & Wevers, R. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.22 · Cited by 146 · cited 2×
“Cutis laxa is a rare skin disorder characterized by wrinkled, redundant, inelastic and sagging skin due to defective synthesis of elastic fibres and other proteins of the ECM [167].”
Background
Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC
Mendoza‐Londono, R., Fahiminiya, S., Majewski, J., Tétreault, M., Nadaf, J., Kannus, P., Sochett, E. B., Howard, A., Stimec, J., Dupuis, L., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.04.021 · Cited by 140 · cited 1×
“Other features are decreased calf muscle mass, joint hyperlaxity and soft skin [89].”
Background
Extracellular Matrix in Development: Insights from Mechanisms Conserved between Invertebrates and VertebratesPreprint
Brown, N. H. (2011) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a005082 · Cited by 129 · cited 1×
“An example of coexistence is observed during muscle differentiation, where a sticky ECM is required to bind the extremities of the cells, whereas a slippery matrix coats the lateral sides [38].”
Background
Autosomal recessive myosclerosis myopathy is a collagen VI disorder
Merlini, L., Martoni, E., Grumati, P., Sabatelli, P., Squarzoni, S., Urciuolo, A., Ferlini, A., Gualandi, F., & Bonaldo, P. (2008) · Neurology · doi:10.1212/01.wnl.0000327611.01687.5e · Cited by 125 · cited 1×
“Increased serum creatine kinase was also found [133].”
Background
Matricryptins derived from collagens and proteoglycans
Ricard‐Blum, S. (2010) · Frontiers in bioscience · doi:10.2741/3712 · Cited by 124 · cited 5×
“More severe vision defects can be observed in patients with the Knobloch syndrome-1 due to alterations of the type XVIII collagen.”
BackgroundInfluential
The Non-phagocytic Route of Collagen Uptake
Madsen, D. H., Ingvarsen, S., Jürgensen, H. J., Melander, M. C., Kjøller, L., Moyer, A. B., Honoré, C., Madsen, C. A., Garred, P., Burgdorf, S., et al. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.208033 · Cited by 122 · cited 1×
“Finally, lysosomes fuse together to generate large structures containing collagen and ECM fragments that undergo enzymatic digestion by cysteine cathepsins [72,73].”
Background
Trichothiodystrophy: From basic mechanisms to clinical implications
Stefanini, M., Botta, E., Lanzafame, M., & Orioli, D. (2009) · DNA repair · doi:10.1016/j.dnarep.2009.10.005 · Cited by 120 · cited 1×
“TTD patients present a 20-fold higher mortality compared to the US general population [158,159].”
BackgroundSelf-citation
Structural basis of homo- and heterotrimerization of collagen I
Sharma, U., Carrique, L., Goff, S. V., Mariano, N., Georges, R.-N., Delolme, F., Koivunen, P., Myllyharju, J., Moali, C., Aghajari, N., et al. (2017) · Nature Communications · doi:10.1038/ncomms14671 · Cited by 119 · cited 1×
“The most abundant collagen of the human body, the interstitial type I collagen, is made by two identical α1 and one α2 chain, which shows high sequence homology with α1 [57].”
Background
Structure of Homo- and Hetero-oligomeric Meprin Metalloproteases
Bertenshaw, G. P., Norcum, M. T., & Bond, J. S. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m208808200 · Cited by 113 · cited 6×
“ADAMs are involved in cytokines processing and growth factor receptor shedding [43] while ADAMTS play a role in degradation of ECM components, particularly collagens and proteoglycans [44].”
BackgroundInfluential
Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa
Rashidghamat, E., & McGrath, J. A. (2017) · Intractable & Rare Diseases Research · doi:10.5582/irdr.2017.01005 · Cited by 110 · cited 1×
“DDEB and RDEB are also known as Cockayne-Touraine disease and Hallopeau-Siemens disease, respectively [135].”
Background
Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers–Danlos syndrome
Müller, T., Mizumoto, S., Suresh, I., Komatsu, Y., Vodopiutz, J., Dündar, M., Straub, V. W., Lingenhel, A., Melmer, A., Lechner, S., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt227 · Cited by 107 · cited 2×
“EDSMC1 and 2 share most of the clinical features, even though the majority of cases (31) refer to the EDSMC1 and only three cases are reported for the EDSMC2 type [78].”
Background
Novel COL4A1 mutations associated with HANAC syndrome: A role for the triple helical CB3[IV] domain
Plaisier, E., Chen, Z.-Y., Gekeler, F., Benhassine, S., Dahan, K., Marro, B., Alamowitch, S., Pâques, M., & Ronco, P. (2010) · American Journal of Medical Genetics. Part A · doi:10.1002/ajmg.a.33659 · Cited by 104 · cited 1×
“In addition, patients may manifest eye problems, like arterial retinal tortuosity, cataract and abnormality called Axenfeld-Rieger anomaly [124].”
Background
A frequent functional SNP in theMMP1promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa
Titeux, M., Pendaries, V., Tonasso‐Calvière, L., Décha, A., Bodemer, C., & Hovnanian, A. (2007) · Human Mutation · doi:10.1002/humu.20647 · Cited by 104 · cited 2×
“An association between disease severity and specific SNP in MMP1 gene (*120353) was found in three affected members of one family and in a cohort of 31 unrelated French RDEB patients [136].”
Background
Genetic risk factors for spontaneous intracerebral haemorrhage
Carpenter, A., Singh, I. P., Gandhi, C. D., & Prestigiacomo, C. J. (2015) · Nature Reviews Neurology · doi:10.1038/nrneurol.2015.226 · Cited by 103 · cited 1×
“The mutated vascular collagen diminishes the tensile strength of vessels and increases their fragility, which can lead to haemorrhage [128].”
Background
Collagenous transmembrane proteins: collagen XVII as a prototype
Franzke, C.-W., Tasanen, K., Schumann, H., & Bruckner‐Tuderman, L. (2003) · Matrix Biology · doi:10.1016/s0945-053x(03)00051-9 · Cited by 101 · cited 1×
“Collagen types XIII and XVII are included in this group [61].”
Background
A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome
Baker, S., Booth, C., Fillman, C., Shapiro, M., Blair, M., Hyland, J., & Ala-kokko, L. (2011) · American Journal of Medical Genetics. Part A · doi:10.1002/ajmg.a.34071 · Cited by 101 · cited 2×
“None of the family members was known to have cleft palate and, although there was short stature in childhood, normal height was found in adults [108].”
Background
Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type
Tiller, G. E., Polumbo, P. A., Weis, M. A., Bogaert, R., Lachman, R. S., Cohn, D. H., Rimoin, D. L., & Eyre, D. R. (1995) · Nature Genetics · doi:10.1038/ng0995-87 · Cited by 94 · cited 1×
“The disorder is a skeletal dysplasia with platyspondyly and brachydactyly E-like changes (short meta-carpals and metatarsals, short distal phalanges in the hand and feet) [107].”
Background
Topical Review: Schizencephaly: Clinical Spectrum, Epilepsy, and Pathogenesis
Granata, T., Freri, E., Caccia, C., Setola, V., Taroni, F., & Battaglia, G. (2004) · Journal of Child Neurology · doi:10.1177/08830738040190030801 · Cited by 92 · cited 1×
“Type II is associated with mental retardation, seizures, hypotonia, spasticity, inability to walk or speak and blindness [127].”
Background
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa
Fischer‐Zirnsak, B., Escande‐Beillard, N., Ganesh, J., Tan, Y. X., Al-Bughaili, M., Lin, A. E., Sahai, I., Bahena, P., Reichert, S. L., Loh, A., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.08.001 · Cited by 89 · cited 1×
“Patients also exhibit a combination of muscular hypotonia with brisk muscle reflexes [170].”
Background
A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype–phenotype correlations in type XI collagenopathies
Majava, M., Hoornaert, K. P., Bartholdi, D., Bouma, M., Bouman, K., Carrera, M., Devriendt, K., Hurst, J., Kitsos, G., Niedrist, D., et al. (2007) · American Journal of Medical Genetics. Part A · doi:10.1002/ajmg.a.31586 · Cited by 88 · cited 1×
“Moreover, COL11A1 mutations are associated by early-onset hearing loss [110].”
Background
Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy.
Bertini, E., & Pepe, G. (2002) · European journal of paediatric neurology · doi:10.1053/ejpn.2002.0593 · Cited by 88 · cited 1×
“The mild form may also reveal skin abnormalities, including follicular hyperkeratosis on the arms and legs; soft, velvety skin on the hand palms and feet soles; abnormal wound healing resulting in shallow scars [131].”
Background
The natural history, including orofacial features of three patients with Ehlers–Danlos syndrome, dermatosparaxis type (EDS type VIIC)
Malfait, F., Coster, P. D., Haußer, I., van Essen, A. J., Franck, P., Colige, A., Nusgens, B., MARTENS, L. C., & Paepe, A. D. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30299 · Cited by 85 · cited 1×
“Extra (redundant) folds of skin may be present as affected children get older [81].”
Background
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain
Logan, C. V., Cossins, J., Cruz, P. M. R., Parry, D. A., Maxwell, S., Martínez‐Martínez, P., Riepsaame, J., Abdelhamed, Z. A., Lake, A. V. R., Moran, M., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.10.017 · Cited by 82 · cited 1×
“The severity of the weakness and disease course is variable [149].”
Background
Régulation de l’activité cellulaire par la matrice extracelulaire : le concept de matrikines
Maquart, F., Siméon, A., Pasco, S., & Monboisse, J. (1999) · Journal de la Société de Biologie · doi:10.1051/jbio/1999193040423 · Cited by 81
Fibronectin Growth Factor-Binding Domains Are Required for Fibroblast Survival
Lin, F., Ren, X.-D., Pan, Z., Macri, L. K., Zong, W., Tonnesen, M. G., Rafailovich, M. H., Bar‐Sagi, D., & Clark, R. A. F. (2010) · Journal of Investigative Dermatology · doi:10.1038/jid.2010.253 · Cited by 77 · cited 1×
“Hepatocyte growth factor (HGF) binds to the 70 kDa N-terminal and the 40 kDa C-terminal fragments of fibronectin [15], whereas platelet-derived growth factor (PDGF) binds the type III and the variable domains of fibronectin [16].”
Background
Infantile Cortical Hyperostosis (Caffey Disease): A Review
Kamoun-Goldrat, A. S., & Merrer, M. F. L. (2008) · Journal of Oral and Maxillofacial Surgery · doi:10.1016/j.joms.2007.09.007 · Cited by 73 · cited 1×
“Rare cases of recurrence have also been described [90].”
Background
Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s)
Yonekawa, T., & Nishino, I. (2014) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2013-307052 · Cited by 71 · cited 1×
“As in BTHLM1, some people with UCMD1 have follicular hyperkeratosis [132].”
Background
Osteogenesis Imperfecta: A Translational Approach to Brittle Bone Disease
Shapiro, J., Byers, P., Glorieux, F., & Sponsellor, P. (2013) · doi:10.1016/c2011-0-07790-6 · Cited by 68 · cited 1×
“Types X OI is a severe deforming form of the disorder characterized by aberrant collagen crosslinking, folding and chaperoning [87].”
Background
Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6
Rost, S., Bach, E., Neuner, C., Nanda, I., Dysek, S., Bittner, R., Keller, A., Bartsch, O., Mlynski, R., Haaf, T., et al. (2013) · European Journal of Human Genetics · doi:10.1038/ejhg.2013.108 · Cited by 66 · cited 1×
“Female patients develop mild to moderate hearing impairment in the third/fourth decades of life and rarely hearing loss in the first decade of life [129].”
Background
The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to CHST14 mutations
Janecke, A. R., Li, B., Boehm, M., Krabichler, B., Rohrbach, M., Müller, T., Fuchs, I., Golas, G., Katagiri, Y., Ziegler, S. G., et al. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37383 · Cited by 66 · cited 1×
“EDSMC neonates show distal arthrogryposis and muscular hypotonia [78,79].”
Background
The presence of a fibrotic focus is an independent predictor of early metastasis in lymph node-negative breast cancer patients.
Colpaert, C., Vermeulen, P., Marck, E. V., & Dirix, L. (2001) · American Journal of Surgical Pathology · doi:10.1097/00000478-200112000-00016 · Cited by 61 · cited 1×
“Tissue stiffness can drive malignant transformation via integrin-mediated mechanisms [23] and such fibrotic “stiff” lesions are associated with a poor prognosis [24].”
Background
Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy
Jackson, G. C., Marcus‐Soekarman, D., Stolte‐Dijkstra, I., Verrips, A., Taylor, J. A., & Briggs, M. D. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33240 · Cited by 59 · cited 1×
“EDM2 onset is usually in childhood, around 3-4 years of age and clinical variability is observed even within the same family [141].”
Background
Missense and nonsense mutations in the alternatively-spliced exon 2 ofCOL2A1cause the ocular variant of Stickler syndrome
McAlinden, A., Majava, M., Bishop, P. N., Perveen, R., Black, G. C. M., Pierpont, M. E., Ala‐Kokko, L., & Männikkö, M. (2007) · Human Mutation · doi:10.1002/humu.20603 · Cited by 58 · cited 1×
“Systemic features of premature osteoarthritis, cleft palate, hearing impairment and craniofacial abnormalities are very mild or absent [113].”
Background
Dominant negative mutations in the C‐propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies
Zankl, A., Neumann, L., Ignatius, J., Nikkels, P., Schrander-Stumpel, C., Mortier, G., Omran, H., Wright, M., Hilbert, K., Bonafė, L., et al. (2005) · American Journal of Medical Genetics. Part A · doi:10.1002/ajmg.a.30531 · Cited by 55 · cited 1×
“The resting cartilage appeared hypercellular with large chondrocytes [102,103].”
Background
Unraveling metalloproteinase function in skeletal biology and disease using genetically altered mice
Aiken, A., & Khokha, R. (2009) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2009.07.002 · Cited by 53
Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations—findings in 10 patients
Mäkitie, O., Susic, M., Ward, L., Barclay, C., Glorieux, F., & Cole, W. (2005) · American Journal of Medical Genetics. Part A · doi:10.1002/ajmg.a.30855 · Cited by 53 · cited 1×
“These defects give rise to unusual “waddling” walk (gait) [144].”
Background
Novel recessive BFSP2 and PITX3 mutations: Insights into mutational mechanisms from consanguineous populations
Aldahmesh, M., Khan, A. O., Mohamed, J. Y., & Alkuraya, F. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e31822623d5 · Cited by 52 · cited 1×
“Skull defects range from occipital encephalocele to occult cutis aplasia [151].”
Background
De Barsy syndrome: a review of the phenotype
Kivuva, E., Parker, M., Cohen, M. C., Wagner, B., & Sobey, G. (2008) · Clinical Dysmorphology · doi:10.1097/mcd.0b013e3282f4a964 · Cited by 52 · cited 1×
“ARCL3A is characterized by cutis laxa (a progeria-like appearance) and ophthalmologic abnormalities [169].”
Background
Molecular Packing in Network-Forming Collagens
Knupp, C., & Squire, J. (2003) · TheScientificWorldJournal · doi:10.1100/tsw.2003.40 · Cited by 52 · cited 2×
“For this reason collagen type VI can also be included among the network-forming collagens [60].”
Background
Alport syndrome with diffuse leiomyomatosis
Anker, M., Arnemann, J., Neumann, K., Ahrens, P., Schmidt, H., & König, R. (2003) · American Journal of Medical Genetics. Part A · doi:10.1002/ajmg.a.20019 · Cited by 51 · cited 1×
“DL-ATS reveals the Alport syndrome features associated with diffuse leiomyomatosis [119].”
Background
A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p.
Brown, M. R., Tomek, M., Laer, L. V., Smith, S. D., Kenyon, J., Camp, G. V., & Smith, R. J. H. (1997) · American Journal of Human Genetics · doi:10.1086/514892 · Cited by 51 · cited 1×
“The affected individuals experienced progressive hearing loss beginning in the second to fourth decades [147].”
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Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.
Nikopoulos, K., Schrauwen, I., Simon, M. E. H., Collin, R. W., Veckeneer, M., Keymolen, K., Camp, G. V., Cremers, F., & van den Born, L. I. (2011) · Investigative Ophthalmology and Visual Science · doi:10.1167/iovs.10-7128 · Cited by 50 · cited 1×
“Individuals affected by STL4 have moderate-to-severe sensorineural hearing loss, moderate-to-high myopia with vitreoretinopathy, cataracts and epiphyseal dysplasia [112].”
Background
Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder.
Shinwari, J. M. A., Khan, A. O., Awad, S., Shinwari, Z., Alaiya, A., Al-anazi, M., Tahir, A. I., Poizat, C., & Tassan, N. A. (2015) · American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.11.006 · Cited by 49 · cited 1×
“The third sib had no ptosis but showed bilateral Duane retraction syndrome, exotropic in the right eye and esotropic in the left [152].”
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Comparison of the impact of open and endovascular abdominal aortic aneurysm repair on renal function.
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The shed ectodomain of type XIII collagen affects cell behaviour in a matrix-dependent manner
Väisänen, M., Väisänen, T., & Pihlajaniemi, T. A. (2004) · Biochemical Journal · doi:10.1042/bj20031974 · Cited by 47 · cited 1×
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Spondylometepiphyseal dysplasia, Strudwick type.
Anderson, C., Sillence, D., Lachman, R., Toomey, K., Bull, M., Dorst, J., Rimoin, D., & Opitz, J. M. (1982) · American journal of medical genetics · doi:10.1002/ajmg.1320130304 · Cited by 46 · cited 1×
“Distinctive radiographic feature is irregular sclerotic changes, described as “dappled” in the metaphyses of the long bones that are caused by alternating zones of osteopenia and osteosclerosis [106].”
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Czech dysplasia metatarsal type: another type II collagen disorder
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A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions
Oliver, V. F., van Bysterveldt, K. A., Cadzow, M. J., Steger, B., Romano, V., Markie, D., Hewitt, A. W., Mackey, D. A., Willoughby, C. E., Sherwin, T., et al. (2016) · Ophthalmology · doi:10.1016/j.ophtha.2015.12.008 · Cited by 45 · cited 4×
“Epithelial recurrent erosion dystrophy (ERED) COL17 ERED (#122400) is caused by heterozygous mutation in COL17A1 gene (*113811) on chromosome 10q24.”
BackgroundInfluential
Target-Derived Matricryptins Organize Cerebellar Synapse Formation Through α3β1 Integrins
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Extracellular Matrix Degradation
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Mitochondrial oxidative phosphorylation in autosomal dominant optic atrophy
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“They affect the ability of heparin sulphate to bind several growth factors such as VEGF, PDGF and FGF, thus altering the downstream signalling events [50].”
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Autosomal dominant avascular necrosis of femoral head in two Taiwanese pedigrees and linkage to chromosome 12q13.
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“LCPD affects more often boys who are usually shorter than their peers [99].”
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Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization
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“The type VIII form of OI (mutations in P3H1) includes severe growth defects, skeletal demineralization, scoliosis, round face and proptosis [85].”
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Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity
Zenteno, J. C., Crespí, J., Buentello‐Volante, B., Buil, J. A., Bassaganyas, F., Vela, J. I., Díaz‐Cascajosa, J., & Marieges, M. T. (2014) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/s00417-014-2800-6 · Cited by 40 · cited 1×
“Involvement of non-ocular vascular beds has not been demonstrated in most cases but occasionally other associated vascular abnormalities have been recorded, including malformations in the Kieselbach nasal septum, spinal cord vascular mass, telangiectasis of bulbar conjunctiva and internal carotid artery aneurysm [123].”
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Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome
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Common interruptions in the repeating tripeptide sequence of non-fibrillar collagens: sequence analysis and structural studies on triple-helix peptide models.
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TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin
Arseni, L., Lanzafame, M., Compe, E., Fortugno, P., Afonso-Barroso, A., Peverali, F. A., Lehmann, A. R., Zambruno, G., Egly, J., Stefanini, M., et al. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1416181112 · Cited by 30 · cited 1×
“This event leads to hyper-secretion of active MMP1 enzyme and degradation of collagen type I in the dermis of TTD patient skin [157].”
BackgroundSelf-citation
Collagen remodeling by phagocytosis is determined by collagen substrate topology and calcium-dependent interactions of gelsolin with nonmuscle myosin IIA in cell adhesions
Arora, P. D., Wang, Y., Bresnick, A., Dawson, J. F., Janmey, P., & McCulloch, C. (2013) · Molecular Biology of the Cell · doi:10.1091/mbc.e12-10-0754 · Cited by 30 · cited 1×
“The extracellular collagen fragments are then recruited through phagocytosis from the neighbouring cells, mainly fibroblasts and macrophages, which send them to degradation via the lysosomal pathway [70].”
Background
XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression
Orioli, D., Compe, E., Nardò, T., Mura, M., Giraudon, C., Botta, E., Arrigoni, L., Peverali, F. A., Egly, J., & Stefanini, M. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds508 · Cited by 26 · cited 1×
“A reduced expression of COL6A1 (*120220), an abundant collagen of skin and connective tissue, has been shown in the skin of TTD patients with mutations in the ERCC2/XPD gene [156].”
BackgroundSelf-citation
Bruck syndrome - a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation.
Moravej, H., Karamifar, H., Karamizadeh, Z., Amirhakimi, G., Atashi, S., & Nasirabadi, S. (2015) · Endokrynologia Polska · doi:10.5603/ep.2015.0024 · Cited by 24
Czech Dysplasia Metatarsal Type
Marik, I., Marikova, O., Zemková, D., Kuklik, M., & Kozlowski, K. (2004) · American Journal of Medical Genetics. Part A · doi:10.1002/ajmg.a.30132 · Cited by 23 · cited 1×
“Czech dysplasia is a skeletal dysplasia characterized by early and progressive onset, shortening of the third and fourth toes caused by metatarsal hypoplasia [97].”
Background
Mutations in COL8A2, the Gene Encoding the α2 Chain of Type VIII Collagen, Cause Two Forms of Corneal Endothelial Dystrophy
Black, G., Biswas, S., Munier, F., Stone, E., Bonshek, R., & McLeod, D. (2002) · doi:10.1042/cs103069pb · Cited by 23 · cited 1×
“The authors suggested that the underlying pathogenesis of FECD and PPCD2 may be related to disturbance of the role of COL8 in influencing the terminal differentiation of the neural crest-derived corneal endothelial cell [140].”
Background
Dominant and Recessive Forms of Fibrochondrogenesis Resulting from Mutations at a Second Locus, COL11A2
Tompson, S. W., Faqeih, E., Ala-kokko, L., Hecht, J. T., Miki, R., Funari, T. L., Funari, V., Nevarez, L., Krakow, D., & Cohn, D. H. (2012) · American Journal of Medical Genetics. Part A · doi:10.1002/ajmg.a.34406 · Cited by 22 · cited 1×
“Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss and severe skeletal dysplasia [146].”
Background
Identification of supernumerary der(20) chromosomes by FISH in three patients
Viersbach, R., Engels, H., & Schwanitz, G. (1997) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19970613)70:3 · Cited by 21
Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism
Comstock, J., Putnam, A., Sangle, N., Lowichik, A., Rose, N., & Opitz, J. M. (2010) · American Journal of Medical Genetics. Part A · doi:10.1002/ajmg.a.33463 · Cited by 21 · cited 1×
“The inheritance is autosomal dominant but somatic and germline mosaicism have also been reported [96].”
Background
Steel Syndrome: Dislocated Hips and Radial Heads, Carpal Coalition, Scoliosis, Short Stature, and Characteristic Facial Features
Flynn, J., Ramírez, N., Betz, R., Mulcahey, M., Pino, F., Herrera-soto, J. A., Carlo, S., & Cornier, A. (2010) · Journal of pediatric orthopedics · doi:10.1097/bpo.0b013e3181d3e464 · Cited by 21 · cited 1×
“The dislocated hips are resistant to surgical intervention [153].”
Background
Brittle Cornea Syndrome: Case Report with Novel Mutation in thePRDM5Gene and Review of the Literature
Avgitidou, G., Siebelmann, S., Bachmann, B. O., Kohlhase, J., Heindl, L. M., & Cursiefen, C. (2015) · Case Reports in Ophthalmological Medicine · doi:10.1155/2015/637084 · Cited by 20 · cited 1×
“Systemic abnormalities included increased skin laxity, pectus excavatum, scoliosis, congenital hip dislocation, recurrent shoulder dislocation, high-frequency hearing loss, high-arched palate and mitral valve prolapse [166].”
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Pregnancy in women with Alport syndrome
Crovetto, F., Moroni, G., Zaina, B., Acaia, B., Ossola, M., & Fedele, L. (2013) · International Urology and Nephrology · doi:10.1007/s11255-012-0154-8 · Cited by 20
Dominant inheritance of multiple epiphyseal dysplasia, myopia and deafness
Beighton, P., Goldberg, L., & Hof, J. (1978) · Clinical Genetics · doi:10.1111/j.1399-0004.1978.tb02125.x · Cited by 20 · cited 2×
“Several cases have been reported, included family members over various generations [95,100,101].”
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Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type
Neumann, L., Kunze, J., Uhl, M., Stöver, B., Zabel, B., & Spranger, J. (2003) · Pediatric Radiology · doi:10.1007/s00247-003-1055-x · Cited by 18 · cited 1×
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Modulating Collagen Triple-Helix Stability with 4-Chloro, 4-Fluoro, and 4-Methylprolines
Shoulders, M., & Raines, R. T. (2009) · Advances in Experimental Medicine and Biology · doi:10.1007/978-0-387-73657-0_115 · Cited by 16 · cited 2×
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A case of Marshall's syndrome and review of the literature
Çalışkan, E., Açıkgöz, G., Yeniay, Y., Özmen, I., Gamsızkan, M., & Akar, A. (2015) · International Journal of Dermatology · doi:10.1111/ijd.12471 · Cited by 7
Spondyloepiphyseal dysplasia with accumulation of glycoprotein in the chondrocytes: spondyloepiphyseal dysplasia, Stanescu type
Nishimura, G., Saitoh, Y., Okuzumi, S., Imaizumi, K., Hayasaka, K., & Hashimoto, M. (1998) · Skeletal Radiology · doi:10.1007/s002560050363 · Cited by 7 · cited 1×
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Ectodermal dysplasia with tetramelic deficiencies and no mutation in p63: Odontotrichomelic syndrome or a new entity?
Zankl, A., Scheffer, H., & Schinzel, A. (2004) · American Journal of Medical Genetics. Part A · doi:10.1002/ajmg.a.20646 · Cited by 6 · cited 1×
“Some patients also present shortening of long bones, degenerative changes in the proximal femora, limited elbow extension, midface hypoplasia, myopia, deafness and mental retardation [105].”
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Namaqualand hip dysplasia. Orthopedic implications.
Learmonth, I., Christy, G., & Beighton, P. (1987) · Clinical Orthopaedics and Related Research · doi:10.1097/00003086-198705000-00020 · Cited by 5
Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu
Hammarsjö, A., Nordgren, A., Lagerstedt-Robinson, K., Malmgren, H., Nilsson, D., Wedrén, S., Nordenskjöld, M., Nishimura, G., & Grigelioniene, G. (2016) · American Journal of Medical Genetics. Part A · doi:10.1002/ajmg.a.37387 · Cited by 3 · cited 1×
“Other clinical characteristics are generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones and enlarged phalangeal epimetaphyses of the hands [93,94].”
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Authors: Arseni, L., Lombardi, A., & Orioli, D.
Affiliations: German Cancer Research Center (DE)
Istituto di Genetica Molecolare (IT)
Corresponding author: Orioli, Donata
ORCID: Arseni, Lavinia
Lombardi, Anita
Orioli, Donata
Venue: International Journal of Molecular Sciences
Publisher: MDPI AG
Published: 2018-05-08
Volume: 19
Issue: 5
Pages: 1407
ISSN: 1422-0067 (ISSN-L)
DOI: 10.3390/ijms19051407
PMC: PMC5983607
OpenAlex: W2800155899
Cited by: 186
References: 172
Citations by year: 2026: 15 · 2025: 31 · 2024: 33 · 2023: 21 · 2022: 23 · 2021: 31 · 2020: 14 · 2019: 12 · 2018: 4
FWCI: 2.13
Type: journal article
Language: en
Open access: gold
doi.org
Licence: cc-by
creativecommons.org/licenses/by/4.0/ (vor)
Locations: International Journal of Molecular Sciences (publishedVersion, cc-by)
Europe PMC (PubMed Central) (publishedVersion, cc-by)
PubMed Central (publishedVersion, cc-by)
PubMed (publishedVersion)
DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders: Deutsches Krebsforschungszentrum
Fondazione Umberto Veronesi
Associazione Italiana per la Ricerca sul Cancro (IG 17710, 17710)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
Physical Sciences › Materials Science › Biomaterials › Collagen: Extraction and Characterization
Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Cellular Mechanics and Interactions
Keywords: collagen, extracellular matrix, collagen degradation, cell proliferation, cell migration, cell differentiation, diagnosis
MeSH terms: Cell Movement, Collagen, Extracellular Matrix, Humans, Phenotype, Structure-Activity Relationship, Extracellular Matrix Proteins, Genetic Diseases, Inborn, Cell Proliferation

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From Structure to Phenotype: Impact of Collagen Alterations on Human Health

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