Craniofacial Anomalies Pediatric Research and Clinical Trials

LIke ThisLIke ThisLIke ThisLIke ThisLIke This

Contact the Cleft and Craniofacial Center

Epigenetics and mental retardation

The classic DNA double helix spools around clusters of proteins called histones, whose antenna-like “tails” control access to different genes, extending the genetic code. Now, a team led by Yang Shi, PhD, in the Division of Newborn Medicine, shows that an enzyme that alters histones, known as a histone demethylase, may be a key player in a form of X-linked mental retardation affecting boys.

The genetic mutation behind the disorder, which also causes craniofacial defects, impairs this enzyme’s function. Modeling the disease in zebrafish, Shi and colleagues show that the enzyme normally works with a genetic partner to keep cells alive during brain development. When it’s mutated, the enzyme can’t sustain the gene’s activity. Brain cells die, and the fish are born without jaws.

When the enzyme’s activity was restored, brain cells survived and jaws were normal. It’s hard to judge a fish’s intelligence, but the researchers speculate that targeting this enzyme might also reverse cognitive impairment in X-linked mental retardation. (Nature online, July 11)

We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”
- Sandra L. Fenwick, President and CEO

Boston Children's Hospital 300 Longwood Avenue, Boston, MA 02115 617-355-6000 | 800-355-7944