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Mutation in a short-chain collagen gene, CTRP5 , results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration
Abstract
A primary feature of age-related macular degeneration (AMD) is the presence of extracellular deposits between the retinal pigment epithelium (RPE) and underlying Bruch's membrane, leading to RPE dysfunction, photoreceptor death and severe visual loss. AMD accounts for about 50% of blind registrations in Western countries and is a common, genetically complex disorder. Very little is known regarding its molecular basis. Late-onset retinal degeneration (L-ORD) is an autosomal dominant disorder with striking clinical and pathological similarity to AMD. Here we show that L-ORD is genetically heterogeneous and that a proposed founder mutation in the CTRP5 (C1QTNF5) gene, which encodes a novel short-chain collagen, changes a highly conserved serine to arginine (Ser163Arg) in 7/14 L-ORD families and 0/1000 control individuals. The mutation occurs in the gC1q domain of CTRP5 and results in abnormal high molecular weight aggregate formation which may alter its higher-order structure and interactions. These results indicate a novel disease mechanism involving abnormal adhesion between RPE and Bruch's membrane.
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“A gene (C1QTNF5) mutated in patients with an autosomal dominant late-onset retinal/macular degeneration with sub-RPE deposits similar to AMD has also been examined (68).”
From Unraveling a Multifactorial Late-Onset Disease: From Genetic Susceptibility to Disease Mechanisms for Age-Related Macular Degeneration (2009) · cites this paper as [68]
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Self-citation
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“For at least two of these genes, a corresponding animal model (CTPR5 -/-)[164], Fibl-3[165] showing AMD like features, is available.”
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Myonectin (CTRP15), a novel myokine that links skeletal muscle to systemic lipid homeostasis
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“(31), we propose that CTRP5 retains its original designation (20, 33) and CTRP15 retains its current designation as myonectin to prevent confusion in nomenclature.”
Background
Metadata
- Authors
- Hayward, C., Shu, X., Cideciyan, A. V., Lennon, A., Barran, P., Zareparsi, S., Sawyer, L., Hendry, G., Dhillon, B., Milam, A. H., Luthert, P. J., Swaroop, A., Hastie, N. D., Jacobson, S. G., & Wright, A. F.
- Affiliations
- Western General Hospital (GB)
- University of Pennsylvania (US)
- University of Michigan (US)
- University College London (GB)
- ORCID
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2003-10-15
- Volume
- 12
- Issue
- 20
- Pages
- 2657-2667
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2101414552
- Cited by
- 191
- References
- 30
- Citations by year
- 2026: 4 · 2025: 9 · 2024: 5 · 2023: 11 · 2022: 6 · 2021: 11 · 2020: 9 · 2019: 8 · 2018: 10 · 2017: 6 · 2016: 10 · 2015: 7 · 2014: 13 · 2013: 5 · 2012: 14
- FWCI
- 8.20
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- ResearchOnline (Glasgow Caledonian University) (acceptedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- National Eye Institute (EY-13203, EY 13729, U10EY013729, EY13385, R01EY013203, R01EY013385)
- Topics
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Health Sciences › Medicine › Ophthalmology › Retinal Development and Disorders
- Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Retinal Imaging and Analysis
- Keywords
- CTRP5, late-onset retinal degeneration, age-related macular degeneration, retinal pigment epithelium, Bruch's membrane, founder mutation, genetic heterogeneity, protein aggregation, autosomal dominant inheritance
- MeSH terms
- Aged, Aged, 80 and over, Aging, Amino Acid Sequence, Chromosome Mapping, Collagen, Female, Genetic Markers, Haplotypes, Humans, Immunohistochemistry, Macular Degeneration, Male, Middle Aged, Models, Genetic, Models, Molecular, Molecular Sequence Data, Mutation, Pedigree, Phenotype, Retina, Retinal Degeneration, Time Factors, Blotting, Western, Sequence Homology, Amino Acid, Protein Structure, Tertiary, Age of Onset
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