Lehman Chemistry Professor's Research Provides New Clues About the Causes of Mental Retardation
February 16, 2010
Research by Lehman Chemistry Professor Manfred Philipp is shedding new light on the possible causes of mental retardation—specifically about the gene historically associated with this condition.
The research, conducted by Dr. Philipp and colleagues at the New York State Institute for Basic Research in Developmental Disabilities on Staten Island, concludes that mutations in this gene disrupt the correct balance of steroids in the brain, leading to neurological problems later in life. Until now, it has not been clear exactly how or why this gene is required for normal brain development.
Their findings about the HSD17B10 gene product were published in the Proceedings of the National Academy of Sciences.
The HSD17B10 gene product, an enzyme called HSD10, processes many types of steroids and steroid modulators—certain compounds that act on the steroid receptor. The gene also controls the breakdown of a particular amino acid, isoleucine. The mutations analyzed in the research help explain the biological function of HSD10 and how the enzyme's amino acid sequence affects its activity.
Co-authors of the paper, entitled "Mental Retardation Linked to Mutations in the HSD17B10 Gene Interfering with Neurosteroid and Isoleucine Metabolism," included Song-Yu Yang, Xue-Ying He, Simon E. Olpin, Vernon R. Sutton, Joe McMenamin, Robert B. Denman and Mazhar Malik.
Dr. Philipp earned his doctorate in biochemistry from Northwestern University and joined the Lehman faculty in 1977. Also a professor in the biochemistry and chemistry Ph.D. programs at the CUNY Graduate Center, he has taught bioinformatics and biopharmaceuticals as a Fulbright Scholar at the Catholic University of Portugal.
Dr. Philipp has been program director for research-based student support programs at Lehman funded by the National Institutes of Health (NIH), as well as co-program director of Bridges to the Baccalaureate at Bronx Community College and Lehman College, also supported by the NIH.