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| MUTATIONS IN THE TISSUE INHIBITOR OF METALLOPROTEINASES-3 (TIMP3) IN PATIENTS WITH SORSBYS FUNDUS DYSTROPHY |
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| Author(s): WEBER BHF, VOGT G, PRUETT RC, STOHR H, FELBOR U |
| Source: NATURE GENETICS Volume: 8 Issue: 4 Pages: 352-356 Published: DEC 1994 |
| Times Cited: 357 References: 33 |
| 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. |
| Document Type: Article |
| Language: English |
| Reprint Address: WEBER, BHF (reprint author), BIOZENTRUM, INST HUMANGENET, D-97074 WURZBURG, GERMANY |
Addresses:
1. SCHEPENS EYE RES INST, BOSTON, MA 02114 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: PV682 |
| ISSN: 1061-4036 |
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