Environmental Factor, January 2009, National Institute of Environmental Health Sciences
Upcoming Distinguished Lecture by Salvatore DiMauro
By Eddy Ball
The 2008 - 2009 NIEHS Distinguished Lecture Series will welcome its next speaker, Salvatore DiMauro, M.D., at 11:00 a.m. January 13 in Rodbell Auditorium, when he explores the topic of "Mitochondrial Medicine." The lecture hosts will be NIEHS Mitochondrial DNA Replication Group Principal Investigator Bill Copeland, Ph.D., and National Toxicology Program Toxicologist Kristine Witt, M.Sc., of the Toxicology Branch.
DiMauro (http://www.umdf.org/site/apps/nlnet/content2.aspx?c=dnJEKLNqFoG&b=3254081&content_id=%7B785718D7-4BAB-4AA1-B430-CF3B571A0541%7D¬oc=1) is the Lucy G. Moses Professor of Neurology at the Columbia University College Medical Center and a trustee of the United Mitochondrial Disease Foundation (UMDF). His research focuses on genetic errors of energy metabolism, and he defines disease entities using both biochemical and molecular approaches.
In his talk, DiMauro will review the wealth of knowledge that has accumulated over the past fifty years about the etiology of mitochondrial diseases, which are caused primarily by mutations in mitochondrial DNA, but also by mutations in nuclear DNA. He plans to discuss the current understanding of the pathogenic mechanism of the disease, which he describes as "very limited," and the few therapeutic options now available to treat symptoms or slow disease progression. He will also explore experimental approaches aimed at correcting the biochemical or molecular error itself.
While individual mitochondrial diseases are generally considered to be rare, collectively they constitute a significant burden on health, causing premature aging and severe neuromuscular pathologies. As the UMDF website emphasizes, "Every thirty minutes, a child is born who will develop a mitochondrial disease by age 10." Most childhood patients with mitochondrial disease will die by age 20, according to host Bill Copeland.