What causes Brody myopathy ?
What causes Brody disease? Brody disease can be caused by mutations in the gene ATP2A1. In general, genes contain the information needed to make functional molecules called proteins. These proteins are required for our bodies cells (and ultimately tissues, like our muscles) to work correctly. Gene mutations can result in faulty proteins. The ATP2A1 gene tells the body how to make a protein called SERCA Ca(2+)-ATPase. This protein is involved in moving calcium around in the cell, which is important for normal muscle contraction. Mutations in this gene results in problems with calcium transportation in the cell, and ultimately problems with muscle contraction. Not all people with Brody disease have mutations in the ATP2A1 gene. There are likely other gene mutations, that have not yet been identified, that can cause this disease.