Epidermolysis Bullosa

Researchers from INSERM report on findings in epidermolysis bullosa

Published in Genetics and Environmental Health Week, May 14th, 2008

"Recessive dystrophic epidermolysis bullosa (RDEB) is caused by mutations in the COL7A1 gene encoding type VII collagen. Variations in severity between the different clinical forms of RDEB likely depend on the nature and location of COL7A1 mutations, but observed intrafamilial phenotypic variations suggest additional genetic and/or environmental factors," scientists in Toulouse, France report.

"Candidate modifier genes include MMP1, encoding matrix metalloproteinase 1, the first gene implicated in RDEB before its primary role in the disease was excluded. Type VU collagen is a substrate of MMP1 and an imbalance between its synthesis and degradation could conceivably...

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Source: Genetics and Environmental Health Week (2008-05-14)

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