What causes Muscle eye brain disease ?
What causes muscle eye brain disease? Muscle eye brain disease is caused by mutations in the POMGNT1 gene. This gene provides instructions for making a protein that is involved in adding sugar molecules to a protein called alpha dystroglycan. Alpha dystroglycan is important for stabilizing the muscle cell during contraction and relaxation. This protein is also found in the brain and spinal cord (central nervous system), eye, and other parts of the body. All of the reported mutations in the POMGNT1 gene result in a complete loss of function of the POMGNT1 protein. The lack of functional POMGNT1 protein disrupts production of alpha dystroglycan.