SAN ANTONIO (Sept. 11, 2008) — Studies in the UT Health Science Center San Antonio’s Department of Molecular Medicine are unveiling the biology of two mental retardation disorders linked to the X chromosome. This is one of two chromosomes involved in determining gender in many animal species; females have two X chromosomes, while males have an X and a Y.
Team leader Thomas Boyer, Ph.D., associate professor of molecular medicine, and his colleagues are studying FG syndrome and Lujan syndrome, both of which are X-linked mental retardation disorders.
Genes on the X chromosome that direct formation of neurons — the cells that make up the nervous system — act abnormally in these disorders.
Protein MED12 may be the clue The team found that a protein called MED12 directs signals that suppress abnormal neuronal gene activity. Mutations in MED12 responsible for the FG and Lujan syndromes disrupt those signals.
Mental retardation has many causes, including genetic conditions such as Down syndrome, problems during pregnancy or at birth, or health conditions after birth. It is estimated that 1 percent to 3 percent of Americans have some degree of intellectual disability.
The Boyer team’s findings are in the journal
Molecular Cell.
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