SUNY Downstate Researcher Looks to Gene Mutations for Answers
May 2, 2012
, M.D., Ph.D., associate professor of neurology and director of the Neuromuscular Division at
SUNY Downstate Medical Center
, has been awarded a three-year grant totaling
by the Muscular Dystrophy Association, the premier health organization dedicated to preventing and treating muscle-wasting diseases.
The grant will fund Dr. Abrams' research on the role of connexin protein mutations in Charcot-Marie-Tooth disease. Dr. Abrams is a leading authority on this genetic disorder, for which there is currently no known cure or effective treatment.
Charcot-Marie-Tooth Disease (CMT) is among the neuromuscular disorders seen at the Center for Neuromuscular Disease that Dr. Abrams heads at SUNY Downstate. One of the most common inherited neurological disorders, the disease is named for the three physicians who first described it. Also known as peroneal muscular atrophy, it comprises a group of disorders that damage the peripheral nerves. Symptoms include numbness and pain in the hands and feet, and increasing muscle weakness.
Of the several forms of the disease, Dr. Abrams is concerned with type 1 X-linked CMT or CMT1X. This form affects the central nervous system (CNS) in addition to the peripheral nerves. Patients are susceptible to episodic attacks of CNS dysfunction characterized most commonly by motor weakness and difficulty speaking and less often by disorientation, difficulty breathing, and difficulty swallowing.
In his laboratory at Downstate, Dr. Abrams has been studying the role of connexins (gap junction proteins) in both the peripheral and central nervous system. His ongoing research focuses, in part, on the mechanisms by which CMT1X mutations lead to peripheral neuropathy.
More than 300 mutations in the gene for the connexin 32 protein have been linked to CMT1X. Dr. Abrams and his colleagues will study whether abnormal interactions between mutated connexin 32 protein and a related CNS protein, connexin 47, are the cause of the CNS dysfunction found in the disease.