Kunkel Laboratory | Information for Patients and Families

Extensive research on neuromuscular disorders has taught scientists that there are many important proteins in muscle cells that interact closely with one another. A problem with one of the proteins may affect the functioning of the other proteins, and the muscle cell as a whole. Based on our knowledge that many genes and proteins that interact together are involved in different forms of muscular dystrophy, we aim to study several of these genes and proteins in a collaborative research project. The goal of our research is to better understand which genes are "turned on" and which genes are "turned off" in normal and diseased muscle during the course of a lifetime (from fetal life to adulthood). Genes that are turned on produce proteins in our body, whereas genes that are turned off do not produce proteins.

Research has shown that muscle samples of individuals with neuromuscular disease have abnormal patterns of gene expression. In other words, the expression of their genes is different from that of individuals who are not affected with a neuromuscular disease. Also, different proteins are present in patients with neuromuscular diseases than in unaffected individuals. Therefore, we want to understand normal patterns of gene expression, so that we can better understand how abnormal gene expression patterns cause the disease. By learning more about the genes involved in neuromuscular disease, we aim to understand the genetic alterations that cause specific neuromuscular disease. This will hopefully allow us to better diagnose and treat these disorders.

For our research to be successful, we need to study the DNA and muscle of many individuals so that we can learn as much as possible about the causes of these diseases. Participation will not require any more medical procedures, except perhaps a blood draw or saliva collection if mutation analysis was not performed on you/your child in the past.