Gene Mutation in Mentally Retarded Boys Identified

by Rathi Manohar on  July 14, 2010 at 5:03 PM Genetics & Stem Cells News
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A mutation affecting factors that influence gene activity - the epigenome - could induce, researchers have found, an inherited form of mental retardation in boys.
Gene Mutation in Mentally Retarded Boys Identified
Gene Mutation in Mentally Retarded Boys Identified

The findings may help scientists further understand why X-linked disorders cause cognitive impairment and develop new therapies to treat or prevent them.

Hank Qi and his collaborators, Madathia Sarkissian and Thomas Roberts at Dana-Farber Cancer Institute, tested the normal enzyme function of histone demethylase in zebrafish, a popular model for genetic function.

The team found a dramatic impact on craniofacial development and the fish without the enzyme developed virtually no jawbone.

"These studies suggest that the imbalance of histone methylation dynamics plays a critical role in mental retardation. You can imagine a therapeutic approach to enhance the compromised enzymatic activity or to restore the downstream function," says Yang Shi, also a professor of pathology at Harvard Medical School.

The study is published online July 11 in the journal Nature.

Source: ANI

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