Wednesday, January 14, 2009

Study: Birth disorders linked to ancient genes

By Marc Songini

A Harvard University researcher has discovered that the activity of ancient master control genes over the past half-billion years can lend insight to some current birth disorders.

The lead scientist involved in the study, Peter Jezewski, is also a research associate in the department of cytokine biology at the Forsyth Institute in Boston. The research team performed evolutionary analyses on 46 Msx gene family proteins from a variety of sources, from sponges to humans. It found some portions of the Msx proteins have been constant for 600 million years; some of the Msx proteins have duplicated and diverged over time.

The researchers found that the highly conserved protein modules that compose the Msx protein can help uncover the animal-specific master control genes that define the body plans of all modern animals. Moreover, by following the history of the changes to the Msx gene family, the researchers also discovered evidence of the ancient origin of the human mouth.

Jezewski’s work also indicated that human sequence variants in Msx can underlie some diseases. More specifically, it demonstrated that mutations in the same gene may cause orofacial clefting, which includes cleft lip or palate. The mutations associated with severe clefting disorder are found within some portions of the Msx protein, which may offer a molecular explanation for the disease. It thus can give families that are genetically susceptible to the disorder a way to understand how environmental factors, such as maternal smoking, can contribute to their stimulation. This also can help families avoid the conditions that create the disorders.

The Forsyth Institute is an independent organization dedicated to scientific research and education in oral health and the related biomedical sciences.