Researchers at the University of California, San Diego School of Medicine have identified the gene mutation responsible for a particularly severe form of pontocerebellar hypoplasia, a currently incurable neurodegenerative disease affecting children. Based on results in cultured cells, they are hopeful that a nutritional supplement may one day be able to prevent or reverse the condition…. Read the full story from the UCSD Newsroom

Robert K. Naviaux, MD, PhD, is a coauthor of the study. He is professor of medicine in the Division of Medical Genetics and professor in the departments of pediatrics and pathology.

Naviaux leads a medical genetics research laboratory whose two major areas of study are the mitochondrial mechanisms of disease and development and evolutionary systems biology and marine metagenomics. He is founder and co-director of the UC San Diego Mitochondrial and Metabolic Disease Center.

Citation for the report:  Naiara Akizu, Vincent Cantagrel, Jana Schroth, Na Cai, Keith Vaux, Douglas McCloskey, Robert K. Naviaux, Jeremy Van Vleet, Ali G. Fenstermaker, Jennifer L. Silhavy, Judith S. Scheliga, Keiko Toyama, Hiroko Morisaki, Fatma M. Sonmez, Figen Celep, Azza Oraby, Maha S. Zaki, Raidah Al-Baradie, Eissa A. Faqeih, Mohammed A.M. Saleh, Emily Spencer, Rasim Ozgur Rosti, Eric Scott, Elizabeth Nickerson, Stacey Gabriel, Takayuki Morisaki, Edward W. Holmes, Joseph G. Gleeson. AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder. Cell, Volume 154, Issue 3, 1 August 2013, Pages 505–517  |  Read the report

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