Senior Scientist Dr. Jeffrey Boone Miller has been awarded a three-year, $342,000 research grant from the Muscular Dystrophy Association for studies on three congenital muscular dystrophies: Congenital Muscular Dystrophy Type 1A (MDC1A, mutations of laminin-alpha2); Limb-girdle Muscular Dystrophy Type 2D (LGMD2D, mutations of alpha-sarcoglycan); and LGMD2C (mutations of gamma-sarcoglycan). The studies aim to uncover the causes of these inherited muscle disorders and identify potential new therapeutic strategies. 

Dr. Miller will compare muscle cells from patients with a congenital muscular dystrophy to muscle cells from people without the disease to reveal clues about the underlying disease pathology.  “The patients’ cells provide an ideal system for studying the mechanisms of pathogenesis because myotubes formed in these cultures spontaneously undergo cell death, whereas myotubes formed in normal muscle cells don’t,” Dr. Miller explains. Myotubes are immature muscle fibers.

Dr. Miller and his colleagues have found that such aberrant activation of cell death – mediated by the killer protein Bax and its intercellular binding partner Ku70 – may be a disease mechanism in each of the muscular dystrophies they are studying. The MDA-funded research will use molecular techniques to identify the mechanisms that underlie this dysregulation of the Ku70/Bax pathway in order to find therapies that could be used to treat multiple diseases.

(A press release from the Muscular Dystrophy Association can be found at http://mda.org/research/gaag/2012/cmd-lgmd-miller.html.)