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Genetic Basis for Some Birth Defects Found

Posted on: Wednesday, 12 November 2008, 12:00 CST

U.S. medical researchers report they have determined the genetic basis for some birth defects that affect the development of the heart and head.

A multidisciplinary team led by Case Western Reserve University Professor Gary Landreth discovered a common genetic pathway for a number of birth defects such as abnormal development of the jaw, palate and brain.

The researchers said they developed a mouse model of the disorders by removing a gene, ERK2, responsible for the pathway. The scientists, in collaboration with Dr. William Snider at the University of North Carolina, discovered the mice missing the gene for ERK2 in neural crest cells had developmental defects resembling those of human patients with a deletion that includes that gene.

Landreth, with Case Western Associate Professor Michiko Watanabe, found the mouse hearts had characteristic defects resembling those seen in the patients with ERK2 deletions.

"Given Dr. Watanabe's findings, we determined that we had in fact developed animal models that mimicked the human deletion syndrome," said Landreth. "This work sheds light on how these developmental errors occur."

The research that included Dr. Sulagna Saitta at the Children's Hospital of Philadelphia appears in the Proceedings of the National Academy of Science.

Source: United Press International

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