HGPS and related premature aging disorders: From genomic identification to the first therapeutic approaches
Abstract
Progeroid syndromes are heritable human disorders displaying features that recall premature ageing. In these syndromes, premature aging is defined as "segmental" since only some of its features are accelerated. A number of cellular biological pathways have been linked to aging, including regulation of the insulin/growth hormone axis, pathways involving ROS metabolism, caloric restriction, and DNA repair. The number of identified genes associated with progeroid syndromes has increased in recent years, possibly shedding light as well on mechanisms underlying ageing in general. Among these, premature aging syndromes related to alterations of the LMNA gene have recently been identified. This review focuses on Hutchinson-Gilford Progeria syndrome and Restrictive Dermopathy, two well-characterized Lamin-associated premature aging syndromes, pointing out the current knowledge concerning their pathophysiology and the development of possible therapeutic approaches.
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HGPS patients suffer laminopathy due to a sporadic deficiency in proteolytic processing of prelamin A into mature lamin A.
“Hutchison-Gilford progeria syndrome (HGPS) patients suffer from a variety of laminopathy ailments due to a sporadic deficiency in the proteolytic processing of the precursor form of lamin A into the mature protein.”
From Xeroderma Pigmentosa Group A (XPA), Nucleotide Excision Repair and Regulation by ATR in Response to Ultraviolet Irradiation (2017) · cites this paper as [110]
Progerin is a truncated lamin A with a hydrophobic farnesylated C-terminal.
“The aberrantly processed protein produced is called progerin, a truncated form of lamin A with a hydrophobic farnesylated C-terminal 105–112.”
From Xeroderma Pigmentosa Group A (XPA), Nucleotide Excision Repair and Regulation by ATR in Response to Ultraviolet Irradiation (2017) · cites this paper as [110]
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HUTCHINSON-GILFORD PROGERIA SYNDROME: A PATHOLOGIC STUDY
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Self-citationSomatic and gonadal mosaicism in Hutchinson–Gilford progeria
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Progeria and Scleroderma in Infancy
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Role of A-type lamins in signaling, transcription, and chromatin organization
Andrés, V., & González, J. M. (2009) · The Journal of Cell Biology · doi:10.1083/jcb.200904124 · Cited by 289 · see citing works
“…state of premature senescence characterized by alopecia, wrinkled skin, disproportionately large head, loss of subcutaneous fat, joint abnormalities, premature development of atherosclerosis, and death at a mean age of 13, most frequently from heart attack or stroke (Pereira et al., 2008).”
InfluentialNuclear lamin functions and disease
Butin‐Israeli, V., Adam, S. A., Goldman, A. E., & Goldman, R. D. (2012) · Trends in Genetics · doi:10.1016/j.tig.2012.06.001 · Cited by 229 · see citing works
“The success in ameliorating the progerin-related defects in both mouse and cell models has led to drug therapy trials in HGPS patients with inhibitors of protein farnesylation [92, 93], such as the FTI Lonafarnib or a combination of statins and aminobisphosphonates [94].”
BackgroundHo, C. Y., & Shanahan, C. M. (2016) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.116.306717 · Cited by 194 · see citing works
Zwerger, M., Jaalouk, D. E., Lombardi, M. L., Isermann, P., Mauermann, M., Dialynas, G. K., Herrmann, H. O., Wallrath, L. L., & Lammerding, J. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt079 · Cited by 168 · see citing works
“Human Molecular Genetics, 22(12):2335-2349.”
Mariño, G., Ugalde, A. P., Fernández, Á. F., Osorio, F. G., Fueyo, A., Freije, J. M. P., & López-Otı́n, C. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1002696107 · Cited by 145 · see citing works
DNA repair defects and genome instability in Hutchinson–Gilford Progeria Syndrome
Gonzalo, S., & Kreienkamp, R. J. (2015) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2015.05.007 · Cited by 134 · see citing works
“, myocardial infarction or stroke) [8 ,9 ,10,11].”
BackgroundBiology of Cancer and Aging: A Complex Association With Cellular Senescence
Falandry, C., Bonnefoy, M., Freyer, G., & Gilson, É. (2014) · Journal of Clinical Oncology · doi:10.1200/jco.2014.55.1432 · Cited by 130 · see citing works
Nuclear lamina at the crossroads of the cytoplasm and nucleus
Gerace, L., & Huber, M. D. (2011) · Journal of Structural Biology · doi:10.1016/j.jsb.2011.11.007 · Cited by 126 · see citing works
“…that prevent removal of the farnesylated tail of lamin A have dysmorphic nuclei, impaired DNA damage repair, aberrant chromatin structure, diminished Wnt signaling, and a substantial decrease in nuclear deformability accompanied by increased fragility (Pereira et al., 2008; Worman et al., 2009).”
BackgroundKreienkamp, R., Graziano, S., Coll-Bonfill, N., Bedia‐Diaz, G., Cybulla, E., Vindigni, A., Dorsett, D., Kubben, N., Batista, L. F. Z., & Gonzalo, S. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.01.090 · Cited by 124 · see citing works
“LMNA gene mutations are associated with degenerative disorders termed laminopathies, including Hutchinson-Gilford progeria syndrome (HGPS), a premature aging disease that causes patients death in their teens from cardiovascular disease (CVD) (Gordon et al., 2014; Pereira et al., 2008).”
BackgroundMusich, P. R., & Zou, Y. (2009) · Aging · doi:10.18632/aging.100012 · Cited by 117 · see citing works
Molecular insights into the premature aging disease progeria
Vidak, S., & Foisner, R. (2016) · Histochemistry and Cell Biology · doi:10.1007/s00418-016-1411-1 · Cited by 111 · see citing works
“1 3 repair proteins such as Werner syndrome (WS), Cockayne syndrome (CS), Bloom syndrome (BS), ataxia-telangiectasia (A-T), xeroderma pigmentosum (XP) and Rothmund– Thomson syndrome (RTS), suggesting that the maintenance of genome integrity has a central role in human aging (Navarro et al. 2006; Pereira et al. 2008).”
BackgroundInfluentialClinical and genetic heterogeneity in laminopathies
Bertrand, A., Chikhaoui, K., Yaou, R. B., & Bonne, G. (2011) · Biochemical Society Transactions · doi:10.1042/bst20110670 · Cited by 109 · see citing works
Pallardó, F. V., Lloret, A., Lebel, M., d’Ischia, M., Cogger, V. C., Couteur, D. G. L., Gadaleta, M. N., Castello, G., & Pagano, G. (2010) · Biogerontology · doi:10.1007/s10522-010-9269-4 · Cited by 107 · see citing works
Murine models of atrophy, cachexia, and sarcopenia in skeletal muscle
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Vascular aging: implications for cardiovascular disease and therapy
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“Mechanistically, HGPS is caused by accumulation of truncated lamin A protein that has a farnesyl modification [108-110].”
BackgroundBertrand, A., Renou, L., Papadopoulos, A., Beuvin, M., Lacène, E., Massart, C., Ottolenghi, C., Decostre, V., Maron, S., Schlossarek, S., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr534 · Cited by 79 · see citing works
“While the correlation between accumulation of prelamin A and premature ageing syndromes or lipodystrophies are clear (6,7), the relationship between LMNA mutations and other laminopathies is far from being understood, particularly in laminopathies affecting striated muscles.”
BackgroundLefèvre, C., Auclair, M., Boccara, F., Bastard, J.-P., Capeau, J., Vigouroux, C., & Caron-Debarle, M. (2010) · Arteriosclerosis, Thrombosis, and Vascular Biology · doi:10.1161/atvbaha.110.213603 · Cited by 77 · see citing works
Cau, P., Navarro, C. L., Harhouri, K., Roll, P., Sigaudy, S., Kaspi, É., Perrin, S., Sandre‐Giovannoli, A. D., & Lévy, N. (2014) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2014.03.021 · Cited by 75 · see citing works
“[157] Pereira S, Bourgeois P, Navarro C, Esteves-Vieira V, Cau P, De SandreGiovannoli A, et al.”
BackgroundSelf-citationVitamin D receptor signaling improves Hutchinson-Gilford progeria syndrome cellular phenotypes
Kreienkamp, R. J., Croke, M., Neumann, M. A., Bedia‐Diaz, G., Graziano, S., Dusso, A., Dorsett, D., Carlberg, C., & Gonzalo, S. (2016) · Oncotarget · doi:10.18632/oncotarget.9065 · Cited by 67 · see citing works
“Affected patients die in their teens from myocardial infarction or stroke as a result of rapidly progressive atherosclerosis [1-3].”
BackgroundDNA-damage accumulation and replicative arrest in Hutchinson–Gilford progeria syndrome
Musich, P. R., & Zou, Y. (2011) · Biochemical Society Transactions · doi:10.1042/bst20110687 · Cited by 68 · see citing works
p53 isoforms regulate premature aging in human cells
von Muhlinen, N., Horikawa, I., Alam, F., Isogaya, K., Lissa, D., Vojtesek, B., Lane, D. P., & Harris, C. C. (2018) · Oncogene · doi:10.1038/s41388-017-0101-3 · Cited by 69 · see citing works
Graziano, S., Kreienkamp, R., Coll-Bonfill, N., & Gonzalo, S. (2018) · Nucleus · doi:10.1080/19491034.2018.1454168 · Cited by 63 · see citing works
Drug repositioning for rare diseases: Knowledge-based success stories
Scherman, D., & Fetro, C. (2020) · Therapies · doi:10.1016/j.therap.2020.02.007 · Cited by 65 · see citing works
Genomic instability and DNA replication defects in progeroid syndromes
Burla, R., La Torre, M., Merigliano, C., Vernì, F., & Saggio, I. (2018) · Nucleus · doi:10.1080/19491034.2018.1476793 · Cited by 59 · see citing works
Progeria: a rare genetic premature ageing disorder.
Sinha, J. K., Ghosh, S., & Raghunath, M. (2014) · PubMed Central · Cited by 60 · see citing works
Mammalian telomeres and their partnership with lamins
Burla, R., Torre, M. L., & Saggio, I. (2016) · Nucleus · doi:10.1080/19491034.2016.1179409 · Cited by 53 · see citing works
Molecular pathology of rare progeroid diseases
Rieckher, M., Garinis, G. A., & Schumacher, B. (2021) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2021.06.011 · Cited by 48 · see citing works
Blondel, S., Jaskowiak, A.-L., Egesipe, A.-L., Corf, A. L., Navarro, C. L., Cordette, V., Martinat, C., Laâbi, Y., Djabali, K., Sandre‐Giovannoli, A. D., et al. (2014) · Stem Cells Translational Medicine · doi:10.5966/sctm.2013-0168 · Cited by 48 · see citing works
Self-citationA-type lamins and Hutchinson-Gilford progeria syndrome: pathogenesis and therapy
Jose, M. G. (2011) · Frontiers in Bioscience-Scholar · doi:10.2741/216 · Cited by 46 · see citing works
“The activation of p53 might explain the absence of cancer in HGPS patients (96).”
BackgroundMalashicheva, A., & Perepelina, K. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.761469 · Cited by 44 · see citing works
Genomic instability and innate immune responses to self-DNA in progeria
Gonzalo, S., & Coll-Bonfill, N. (2019) · GeroScience · doi:10.1007/s11357-019-00082-2 · Cited by 43 · see citing works
Accelerated ageing: from mechanism to therapy through animal models
Osorio, F. G., Obaya, Á. J., López-Otı́n, C., & Freije, J. M. P. (2008) · Transgenic Research · doi:10.1007/s11248-008-9226-z · Cited by 42 · see citing works
“HGPS is characterized by shortened lifespan, growth impairment, sclerotic skin, early hair loss, aged-facies, decreased joint mobility and cardiovascular problems (Hennekam 2006; Merideth et al. 2008; Pereira et al. 2008).”
BackgroundAltering lamina assembly identifies lamina-dependent and -independent functions for A-type lamins
Zwerger, M., Roschitzki‐Voser, H., Zbinden, R., Denais, C., Herrmann, H. O., Lammerding, J., Grütter, M. G., & Medalia, O. (2015) · Journal of Cell Science · doi:10.1242/jcs.171843 · Cited by 40 · see citing works
“Laminopathies include muscular dystrophies, as well as the premature aging disease Hutchison Gilford progeria syndrome (Bertrand et al., 2011; Pereira et al., 2008; Worman, 2012).”
BackgroundAre aging biomarkers clinically relevant in oncogeriatrics?
Falandry, C., Gilson, É., & Rudolph, K. L. (2012) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2012.08.004 · Cited by 39 · see citing works
The Biology of Aging and Lymphoma: a Complex Interplay
Sarkozy, C., Salles, G. A., & Falandry, C. (2015) · Current Oncology Reports · doi:10.1007/s11912-015-0457-x · Cited by 36 · see citing works
Protein–Protein Interactions and Multi-component Complexes of Aminoacyl-tRNA Synthetases
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- Authors
- Pereira, S., Bourgeois, P., Navarro, C., Esteves-Vieira, V., Cau, P., De Sandre-Giovannoli, A., & Lévy, N.
- Affiliations
- Inserm (FR)
- Hôpital de la Timone (FR)
- Corresponding author
- Lévy, Nicolas
- Venue
- Mechanisms of Ageing and Development
- Publisher
- Elsevier BV
- Published
- 2008-07
- Volume
- 129
- Issue
- 7-8
- Pages
- 449-459
- ISSN
- 0047-6374 (ISSN-L)
- OpenAlex
- W2029492933
- Cited by
- 85
- References
- 145
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 1 · 2023: 1 · 2022: 1 · 2021: 4 · 2020: 4 · 2019: 6 · 2018: 5 · 2017: 7 · 2016: 6 · 2015: 4 · 2014: 10 · 2013: 3 · 2012: 6
- FWCI
- 0.62
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Mechanisms of Ageing and Development (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nuclear Structure and Function
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Aging › Genetics, Aging, and Longevity in Model Organisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- Hutchinson-Gilford progeria syndrome, premature aging, progeroid syndromes, lamin A/C, LMNA gene, restrictive dermopathy, reactive oxygen species, caloric restriction, DNA repair, aging mechanisms
- MeSH terms
- Aging, Animals, Humans, Progeria, Skin Diseases, Aging, Premature, Lamin Type A, Mice
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