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Scientists reveal secrets of Homer's Cyclops to help people with Holoprosencephaly

New study in the FASEB journal provides hope for detecting, preventing, and treating rare brain defects

Homer's Cyclops might be myth, but a disorder that can cause babies to be born with only one eye is very real. Scientists from Cleveland, Ohio, and Paris, France, reached an important milestone in understanding one of the molecular causes of a rare, but serious birth defect, Holoprosencephaly.

In a study to appear in the February issue of The FASEB Journal, researchers describe findings that help explain why and how some fetal brains fail to develop two lobes, as well as why and how the related skull and facial defects occur. Using the information from this study, researchers will be able to pursue better approaches toward detecting, preventing, and treating this serious disorder.

The authors describe how a known mutation of the TG interacting factor (TGIF) gene, called TGIF.P63R, causes Holoprosencephaly, which affects brain and skull formation. In particular, researchers found that this mutation not only does not produce the protein necessary for healthy fetal development, but the mutant protein may actually destroy the small amounts of the normal protein that is needed.

"The name 'Holoprosencephaly' is a mouthful, but the syndrome is awful. This is a devastating condition that has lifelong effects, both for the child and the parents," said Gerald Weissmann, MD, Editor-in-Chief of The FASEB Journal. "The new information in this study sheds much-needed light on the complex molecular processes involved in this disorder and allows researchers to identify new areas of intervention."

Holoprosencephaly occurs when the embryonic forebrain fails to divide into the two lobes that make up the cerebral hemispheres. As a result, people with this disorder have a single-lobed brain structure and severe skull and facial defects. In most cases, the disorder is so severe that fetuses die before birth. In relatively "mild" cases, babies may be born with near-normal brain development, but they usually have facial deformities affecting the eyes, nose, and/or upper lip.

Cody Mooneyhan | EurekAlert!
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