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Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy
Abstract
The hereditary macular dystrophies are progressive degenerations of the central retina and contribute significantly to irreversible visual loss in developed countries. Among these disorders, Sorsby's fundus dystrophy (SFD), an autosomal dominant condition, provides an excellent mendelian model for the study of the genetically complex age-related macular degeneration (AMD), the most common maculopathy in the elderly. Recently, we mapped the SFD locus to 22q13-qter. This same region contains the gene for tissue inhibitor of metalloproteinases-3 (TIMP3), which is known to play a pivotal role in extracellular matrix remodeling. We have now identified point mutations in the TIMP3 gene in affected members of two SFD pedigrees. These mutations are predicted to disrupt the tertiary structure and thus the functional properties of the mature protein.
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“In addition, these studies provided more modest evidence for linkage on many other chromosomes (2, 77, 104, 137, 160), including a region on chromosome 22 near TIMP3, the gene mutated in Sorsby fundus dystrophy (158) (Figure 4).”
From Unraveling a Multifactorial Late-Onset Disease: From Genetic Susceptibility to Disease Mechanisms for Age-Related Macular Degeneration (2009) · cites this paper as [158]
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Metadata
- Authors
- Weber, B. H. F., Vogt, G., Pruett, R. C., Stöhr, H., & Felbor, U.
- Affiliations
- University of Würzburg (DE)
- Venue
- Nature Genetics
- Published
- 1994-12
- Volume
- 8
- Issue
- 4
- Pages
- 352-356
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1990509128
- Cited by
- 656
- References
- 33
- Citations by year
- 2026: 3 · 2025: 9 · 2024: 10 · 2023: 11 · 2022: 11 · 2021: 12 · 2020: 11 · 2019: 13 · 2018: 12 · 2017: 20 · 2016: 11 · 2015: 13 · 2014: 14 · 2013: 17 · 2012: 16
- FWCI
- 15.19
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- University of Regensburg Publication Server (University of Regensburg) (submittedVersion)
- Topics
- Health Sciences › Medicine › Ophthalmology › Retinal Development and Disorders
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Protease and Inhibitor Mechanisms
- Keywords
- Sorsby's fundus dystrophy, TIMP-3, point mutations, hereditary macular dystrophy, autosomal dominant inheritance, extracellular matrix remodeling, protein tertiary structure, age-related macular degeneration, gene mapping
- MeSH terms
- Amino Acid Sequence, Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 22, Exons, Female, Humans, Macular Degeneration, Male, Metalloendopeptidases, Molecular Sequence Data, Neoplasm Proteins, Pedigree, Polymorphism, Genetic, Point Mutation, Tissue Inhibitor of Metalloproteinase-3
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