Scientists identify fundamental brain defect

0 Comments | AFP, September, 2007

WASHINGTON (AFP) — US scientists have discovered how the gene mutation responsible for fragile X syndrome -- the most common inherited form of mental retardation -- alters the way brain cells communicate, a published report said Monday.

In neurons cultured from laboratory rats, the scientists also were able to reverse the effects of the mutation using a drug targeted to the specific site in an upstream pathway of the defect.

The finding could lead to the development of human therapies for this previously untreatable condition, the study said.

The research was led by Stephen Warren, PhD, chair of human genetics in Emory University School of Medicine, and Gary Bassell, Emory professor of cell biology.

It is being reported in the Proceedings of the...