Gene linked to muscular dystrophy-related vision problems identified

April 21st, 2009 - 4:48 pm ICT by ANI  

Washington, Apr 21 (ANI): University of Illinois scientists have identified a new gene linked to vision loss in common form of muscular dystrophy.

Facioscapulohumeral muscular dystrophy, or FSHD, is the world’s third most common type of muscular dystrophy. It is characterized by progressive skeletal muscle weakening in the face, shoulders, and upper arms.

Over half of FSHD patients also have abnormal blood vessels in the back of the eye, which can cause vision problems.

The new study has found that a gene called FRG1 controls blood vessel formation in the retina.

Over 95pct of FSHD patients carry a genetic abnormality proposed to affect expression of the FRG1 gene.

During the study, the researchers examined the FRG1 gene in the frog and found the protein that it encodes for is highly expressed in blood vessels.

Additional experiments show that normal FRG1 protein expression is important for blood vessel growth and organization.

Previous work linked aberrant 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

Thus, the FSHD mutation, by affecting expression of the FRG1 gene may contribute to both the skeletal muscle and visual deficits.

The study showed that FRG1 expression is a main cause of this type of muscular dystrophy and might be an important target for therapeutic intervention.

The study appears in Disease Models & Mechanisms (DMM). (AN)

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