SUNY Downstate Researcher Looks to Gene Mutations for Answers
BROOKLYN, N.Y., May 2, 2012 /PRNewswire-USNewswire/ -- Charles Abrams, 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 $414,787 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.
"We are at the early stages in our understanding of the roles of mutations in connexin 32 in the CMT1X disease process," he says. "We have identified some of the ways in which mutations disrupt the function of connexin 32, but we still do not fully understand why these disruptions lead to both peripheral and central nervous system dysfunction."
SUNY Downstate Medical Center, founded in 1860, was the first medical school in the United States to bring teaching out of the lecture hall and to the patient's bedside. A center of innovation and excellence in research and clinical service delivery, SUNY Downstate Medical Center comprises a College of Medicine, Colleges of Nursing and Health Related Professions, a School of Graduate Studies, a School of Public Health, University Hospital of Brooklyn, and an Advanced Biotechnology Park and Biotechnology Incubator.
SUNY Downstate ranks eighth nationally in the number of alumni who are on the faculty of American medical schools. More physicians practicing in New York City have graduated from SUNY Downstate than from any other medical school.
SOURCE SUNY Downstate Medical Center