Scientists at IBR help discover new gene mutations
Discovery is published in Proceedings of National Academy of Sciences
Monday, November 30, 2009
By STEPHANIE SLEPIAN
ADVANCE STAFF WRITER
Scientists at the Institute for Basic Research in Developmental Disabilities in Willowbrook were part of a
research team that has discovered new gene mutations linked to mental retardation.
The discovery, published in the Proceedings of the National Academy of Sciences, looks at HSD17B10, a
gene required for normal brain development.
The two mutations they found can slow or completely halt an enzyme that processes many types of
steroids. That slowed or halted activity can lead to an accumulation of steroids in the brain, causing
neurological problems.
"This discovery opens up a new approach to preventing and treating developmental disabilities," said Dr.
Mazhar N. Malik, co-chairman of the Department of Neurochemistry at IBR.
The study was led by Dr. Song-Yu Yang, head of IBR's Medical Biochemistry Laboratory. Other members
of the research team include Dr. Xue-Ying He of the Medical Biochemistry Lab, Dr. Robert B. Denman,
head of the Biochemical and Molecular Biology Laboratory, and Dr. Malik.
IBR, the research arm of the state Office of Mental Retardation and Developmental Disabilities, has been
making scientific headlines since it was founded in 1967, as the first facility to study mental retardation.
Work done there has led to the first pre-natal screenings for Fragile X syndrome -- the most common known
cause of inherited developmental disabilities and the most common known single-gene cause for autism --
and the discovery of PKU, the only form of mental retardation that can be treated at birth.
Over the years, they've made breakthroughs in Down syndrome, Alzheimer's disease, Batten disease and
fetal alcohol syndrome.
An outpatient clinic offers sophisticated diagnostic tests to catch things routinely missed on a pediatrician's
exam.
Among IBR's educational programs is the Center for Developmental Neuroscience and Developmental
Disabilities, run jointly with the College of Staten Island.
Stephanie Slepian is a news reporter for the Advance. She may be reached at
slepian@siadvance.com.
©2009 SI Advance
© 2009
SILive.com All Rights Reserved.
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