Graduate Center Researchers Discover Genetic Link to Developmental Disability

A faculty member and two alumni of the Ph.D. Program in Biochemistry at the Graduate Center, City University of New York, have analyzed a genetic mutation with a strong connection to developmental disability in humans. Professor Manfred Philipp (also on the faculty of Lehman College), Dr. Song-Yu Yang (biochemistry alumus, 1984, and adjunct professor in the Ph.D. Program in Biology), and Dr. Xue-Ying He (Biochemistry alumnus, 1991), along with collaborators from other institutions (including the College of Staten Island), published their findings in a report entitled “Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism” in the Proceedings of the National Academy of Sciences (PNAS).

Their research used bioinformatics -- the application of computers and databases to biological problems -- in order to analyze a protein mutation that, according to Professor Philipp, “appears vary rarely in human beings, but when it does it usually results in development disability.” The researchers found that mutations to gene HSD17B10, which is required for normal brain development, can slow the activity of enzyme HSD10, which processes many types of steroids and steroid modulators in the human brain. While practical applications are a long ways away, the discovery may open up a new approach to the prevention and treatment of developmental disability. “If this mutation had not been discovered, we would not know how important this enzyme is in human development,” says Professor Philipp.

To view the full report, please visit http://www.pnas.org/content/106/35/14820.full.