MDA Awards Researcher $300K Grant to Study Congenital Muscular Dystrophy

Margarida Azevedo, MSc avatar

by Margarida Azevedo, MSc |

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Duchene muscular dystrophy drug candidate

Professor Liza Pon, PhD, a leading researcher at the department of pathology and cell biology at Columbia University in New York, was recently awarded a $300,000, three-year research grant from the Muscular Dystrophy Association (MDA) to continue her work in congenital muscular dystrophy (CMD). In a recent interview conducted by the MDA, Dr. Pon explained the motivation and focus of her research work, the importance of continuing funding in this research area, and the implications that new findings might have in other disease areas.

Congenital muscular dystrophy, a frequent childhood dystrophy, is identified in the neonatal period and marked by generalized muscle weakness and joint disorder such as stiffness, leading to delayed motor skills and learning disabilities. Dr. Pon’s main research focus is a recently identified CMD, choline kinase beta or CHKB CMD. Young children with this condition present, in addition to muscle wasting symptoms beginning in infancy, severe mental retardation, language development impairment and deficient heart function that can contribute to death at as early as 2 years of age.

Research has revealed that this condition is caused by a mutation in the protein choline kinase beta (CHKB), responsible for the production of phosphatidylcholine, a structural lipid in cell membranes. Dr. Pon’s research team has found that this lipid deregulation has a negative effect on proteins within membranes, namely the membrane protein Ryanodine Receptor (RyR). This protein is essential for skeletal and heart muscle contraction, and mutations in RyR are known causes of other muscle disorders and heart diseases. Dr. Pon’s research intends to understand if damages to RyR are the cause of CHKB CMD and, using a mouse model for CHKB CMD, understand if restoration of RyR function and lipid balance has an effect on muscle function improvement. Furthermore, Dr. Pon wants to understand the molecular mechanisms responsible for the pathogenicity of and develop possible therapies for CHKB CMD.

Dr. Pon specifically seeks to determine how defects in RyR can affect mitochondria, cellular components essential to muscle function that are responsible for energy generation and that are associated with CHKB CMD, due to their defective distribution. Because RyR and mitochondrial defects have been connected to CMD, the researcher wants to understand the connection and causality between the two. Dr. Pon, whose interest in mitochondria and an encounter with a patient led her to CHKB CMD research, believes that the research developed by her group in this area might have important impacts on other fields, such as heart disease.

On the importance of MDA research support, she noted: “Funding for CMD research from the government is severely limited at this time. With support from the MDA, there have been great discoveries including the genetic basis for multiple forms of CMD and approaches towards cures. The MDA has also brought new people into the field of CMD research, which fortifies the future of CMD research.”

In a closing comment, the researcher left a hopeful message for CMD patients, highlighting the “exponential increase in our understanding of CMD,” and subsequently a greater potential for the development of promising diagnostic and therapeutic tools.