Skeletal muscle disease and vision deficits may seem highly unrelated however researches at the University of Illinois have recently identified a gene that puts these two ailments into the same ball park. Facioscapulohumeral muscular dystrophy, or FSHD, is the world's third most common type of muscular dystrophy. More than half of FSHD sufferers have abnormalities with the blood vessels in their eye which leads to vision impairment. A study of FSHD patients found that over 95% of them had a genetic abnormality on the proposed FRG1 gene. Previous work linked mutated FRG1 expression to the skeletal muscle defects of FSHD, and this study shows that FRG1 expression similarly contributes to abnormal blood vessel growth in the retina.By studying the expression of the FRG1 gene in frog’s researchers were originally able to conclude that it is important for skeletal muscle development. By studying frog’s blood vessels it was found that the protein FRG1 encodes for is highly expressed in blood vessels. Additional experimentation showed that FRG1 protein expression plays an important role in the regulation of blood vessel growth and organisation. The importance of this genetic discovery is that it is now proposed that FRG1 expression is the direct cause for both the skeletal muscles and visual deficits associated with FSHD. If this is proven than gene therapy may be effectively used in the future to help treat this disease.
References: Ryan D. Wuebbles, Meredith L. Hanel, and Peter L. Jones. FSHD region gene 1 (FRG1) is crucial for angiogenesis linking FRG1 to facioscapulohumeral muscular dystrophy-associated vasculopathy. Disease Models & Mechanisms, 2009
