Potential Nutritional Therapy for Childhood Neurodegenerative Disease

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 http://dx.doi.org/10.1016/j.cell.2013.07.005  Read the report

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Drug Treatment Corrects Autism Symptoms in Mouse Model

An old drug gives hope for new treatment in autism

Autism results from abnormal cell communication. Testing a new theory, researchers at the University of California, San Diego School of Medicine have used a newly discovered function of an old drug to restore cell communications in a mouse model of autism, reversing symptoms of the devastating disorder.

The findings are published in the March 13, 2013 issue of the journal PLOS ONE. … Read the full story from the UCSD Newsroom


First author of the study report is Robert K. Naviaux, MD, PhD, 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.

Naviaux earned his MD and PhD degrees at the Indiana University School of Medicine and received his advanced training in virology and molecular biology at the Salk Institute for Biological Studies. There, in the laboratory of Dr. Inder Verma, he conducted investigations in gene therapy and retrovirus biology.

Other Department of Medicine authors of the report are Laura L. Dugan, MD, who is chief of the Division of Geriatrics and Larry L. Hillblom Chair in Geriatric Medicine; research associates Lin Wang and Qingbo Tang; and Mihael Rogac.

Citation for the report:  Naviaux RK, Zolkipli Z, Wang L, Nakayama T, Naviaux JC, et al. (2013) Antipurinergic Therapy Corrects the Autism-Like Features in the Poly(IC) Mouse Model. PLoS ONE 8(3): e57380. doi:10.1371/journal.pone.0057380  |  Read the report