Document Detail


TIMP3 mutation in Sorsby's fundus dystrophy: molecular insights.
MedLine Citation:
PMID:  16259644     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Sorsby's fundus dystrophy (SFD) is a rare autosomal dominant disorder that results in degeneration of the macular region of the retina, with onset usually in the fourth to fifth decade of life. It leads to the rapid loss of central vision, often followed by further loss of peripheral vision. SFD shares several pathological features commonly found in the 'wet' or exudative form of age-related macular degeneration (AMD), the most common cause of blindness in the elderly in developed countries. These phenotypic similarities have led to SFD being proposed as an acceptable genetic model for AMD. Whereas AMD appears to have a complex aetiology, with both genetic and environmental factors playing a role, SFD has been shown to be a single-gene disorder, linked to mutations in exon 5 of the tissue inhibitor of metalloproteinases 3 (TIMP3) gene on chromosome 22q12-q13. This review confines itself to a discussion of the known biochemical properties of the wild-type and SFD TIMP3 proteins and attempts to relate these to the pathology encountered in SFD patients. We also discuss briefly how, despite the lack of inherited mutations in the structural gene, the TIMP3 protein might play a role in the onset and progression of AMD.
Authors:
Zheng Li; Michael P Clarke; Michael D Barker; Norman McKie
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review     Date:  2005-10-31
Journal Detail:
Title:  Expert reviews in molecular medicine     Volume:  7     ISSN:  1462-3994     ISO Abbreviation:  Expert Rev Mol Med     Publication Date:  2005 Oct 
Date Detail:
Created Date:  2005-11-01     Completed Date:  2007-10-11     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100939725     Medline TA:  Expert Rev Mol Med     Country:  England    
Other Details:
Languages:  eng     Pagination:  1-15     Citation Subset:  IM    
Affiliation:
Henry Wellcome Laboratory for Biogerontology Research, Newcastle General Hospital, Newcastle, NE4 6BH, UK. zheng.li@ncl.ac.uk
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MeSH Terms
Descriptor/Qualifier:
Animals
Humans
Macular Degeneration / genetics*,  pathology
Mutation*
Tissue Inhibitor of Metalloproteinase-3 / chemistry,  genetics*,  physiology
Chemical
Reg. No./Substance:
0/TIMP3 protein, human; 0/Tissue Inhibitor of Metalloproteinase-3

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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