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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.

Human molecular genetics | Oct 15, 2003

http://www.ncbi.nlm.nih.gov/pubmed/12944416

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.

Pubmed ID: 12944416 RIS Download

Mesh terms: Age of Onset | Aged | Aged, 80 and over | Aging | Amino Acid Sequence | Blotting, Western | Chromosome Mapping | Collagen | Female | Genetic Markers | Haplotypes | Humans | Immunohistochemistry | Macular Degeneration | Male | Middle Aged | Models, Genetic | Models, Molecular | Molecular Sequence Data | Mutation | Pedigree | Phenotype | Protein Structure, Tertiary | Retina | Retinal Degeneration | Sequence Homology, Amino Acid | Time Factors

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Associated grants

  • Agency: NEI NIH HHS, Id: EY13203
  • Agency: NEI NIH HHS, Id: EY13385
  • Agency: NEI NIH HHS, Id: EY13729

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