FOR IMMEDIATE RELEASE
March 3, 2003
Contact: Rebecca Watson; Public Relations Assistant
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New
Jersey Neuroscience Institute Scientist Studies
Genetic Cause of Dwarfism
Edison, NJ: Dr. Raji Grewal, a neurologist and neurogeneticist at the New Jersey Neuroscience Institute at JFK Medical Center in Edison, NJ, and collaborators from the University of Southern California, Colorado School of Mines and Lawrence Livermore Laboratory, recently co-authored an article that was published in the November 2002 issue of the scientific journal Proceedings of the National Academy of Science.
The article describes a multi-center study investigating the relationship between paternal age and the genetic change or mutation that causes most cases of achondroplasia, which is the most common cause of dwarfism.
According to Dr. Grewal, children affected with achondroplasia are often born to unaffected parents, indicating that this is a new mutation. "Recent genetic research has indicated that the majority of these new mutations occur in the sperm cells of the father," says Dr. Grewal. There is a long held view that there is correlation of the age of the father and the development of this mutation. The goal of the study was to confirm this correlation.
Researchers analyzed the presence of this mutation in the sperm DNA of men of different age groups. They discovered that although there is a mild age effect, it is much less than expected. "This discovery suggests that we have to change our thinking about how and why new mutations occur in this or any other gene," comments Grewal. Future research may clarify whether or not a paternal age effect truly exists for this disease and impact the role of genetic counseling for those trying to conceive.
NJNI is a comprehensive facility designed exclusively for the diagnosis, treatment, and research of complex neurological disorders in adults and children. For more information on the New Jersey Neuroscience Institute, call 732-321-7950 or visit the facility online at www.njneuro.org.