SGCA

(redirected from alpha-sarcoglycan)

SGCA

A gene on chromosome 17q21 that encodes a component of the dystrophin-glycoprotein complex, which is thought to be restricted to striated muscle. It stabilises muscle cell membranes and links the actin cytoskeleton to the extracellular matrix.

Molecular pathology
SGCA mutations result in type 2D autosomal recessive limb-girdle muscular dystrophy.

References in periodicals archive ?

We have had success in the clinic using AAV gene therapy with limb girdle muscular dystrophy type 2D, which is caused by mutations in the alpha-sarcoglycan gene," Louise Rodino-Klapac, PhD, principal investigator in the Center for Gene Therapy at The Research Institute of Nationwide Children's Hospital, said.

New gene transfer strategy shows promise to treat muscular dystrophies

Injections of the alphasarcoglycan gene in the foot muscles of three patients with limb-girdle muscular dystrophy type 2D produced 4-5 times the amount of the alpha-sarcoglycan protein, compared with saline injections.

A new era for treatment of muscular dystrophy

For example, one form may be called alpha-sarcoglycan deficiency and another is known as beta-sarcoglycan deficiency.

Facts About Limb-Girdle Muscular Dystrophy (LGMD)

The researchers point out that limb-girdle muscular dystrophy actually describes more than 19 disorders that occur because patients have a faulty alpha-sarcoglycan gene.