Paul Martin, a professor of pediatrics and of physiology and cell biology at Ohio State University College of Medicine, has been awarded an MDA grant totaling $396,000 over three years. The award will help support Martin's study of the possible therapeutic effects of an enzyme called GALGT2 in Duchenne muscular dystrophy (DMD).
GALGT2 is involved in adding sugar molecules to a protein called alpha-dystroglycan, part of a cluster of proteins located at the muscle-fiber membrane. This cluster is abnormal in a number of forms of muscular dystrophy.
Among the other proteins normally located in this cluster are dystrophin, which is deficient in DMD and abnormal in the related Becker muscular dystrophy (BMD); alpha-sarcoglycan, which is deficient in the type 2D form of limb-girdle muscular dystrophy (LGMD); and merosin, which is deficient in the type 1A form of congenital muscular dystrophy (CMD).
Previous work in Martin's lab has shown that raising GALGT2 levels can help compensate for the loss of dystrophin in a mouse model of DMD, inhibiting the development of muscle abnormalities in DMD model mice.
The Martin lab also has shown that increasing GALGT2 levels can have therapeutic effects on skeletal muscles in animal models of LGMD2D and CMD1A.
"Because GALGT2 is normally expressed in skeletal muscles," Martin said, "its overexpression may have fewer immunologic issues than gene replacement or exon skipping approaches." (The latter approaches increase levels of proteins that are abnormal or deficient in patients, potentially triggering an unwanted immune response.)
"MDA has played a seminal role in the development of my work," Martin said. "MDA funded two years of my postdoctoral training, provided me with my first research grant as an independent faculty member, and now will provide research funding to translate proof-of-concept studies into potential therapies."
Funding for this MDA grant began August 1, 2011.