The gene known to be associated with breast cancer susceptibility, BRCA 1, plays a critical role in the  normal metabolic function of skeletal muscle, according to a new study led by University of Maryland School of Public Health researchers. Dr. Espen Spangenburg, associate professor of kinesiology, and his laboratory team are the first to identify that the BRCA1 protein expressed in the skeletal muscle of both mice and humans, and finding links they believe  show it plays a key role in fat storage, insulin response and mitochondrial function in skeletal muscle cells.

 They commented , "Our findings suggest that certain mutations in the BRCA1 gene may put people at increased risk for metabolic diseases like obesity and type 2 diabetes," said Dr. Spangenburg. "Without BRCA1, muscle cells store excess fat and start to look diabetic. We believe that the significance of the BRCA1 gene goes well beyond breast cancer risk."

 Dr. Spangenburg and his team, including researchers from the University of Maryland School of Medicine, Brigham Young University, Karolinska Institutet in Sweden, and East Carolina University, found that the BRCA1 protein exists in both mouse and in human skeletal muscle. This is the first research since the discovery of BRCA1 in 1994 that the gene is expressed in human muscle cells.

 The research is published in the Journal of Lipid Research.