Uncovering the biology of a painful and disfiguring pediatric disease
Tuesday, June 13, 2017 - 10:02
in Health & Medicine
The study reveals a major physiological function for the CMG2 gene and demonstrates its interaction with collagen VI. This interaction explains how major Hyaline Fibromatosis Syndrome symptoms arise when mutation of the CMG2 gene disrupts the ability of the CMG2 protein to control the levels of collagen VI, which then over-accumulates and produces the painful and disfiguring symptoms of the disease.