Researchers find mechanism behind cleft palate development

September 14, 2010

Researchers from Mount Sinai School of Medicine have found a new mechanism that explains why a certain gene mutation causes craniofrontonasal syndrome (CFNS), a disorder that causes cleft palate and other malformations in the face, brain, and skeleton. Cleft palate affects one of every 1,000 newborns. The research is published in the September 15 issue of Genes & Development.

Previous research has shown that a mutation in a gene called ephrin-B1 caused abnormalities in facial development, but researchers were uncertain of how. Philipe M. Soriano, PhD, Professor, Developmental and Regenerative Biology, and Jeffrey O. Bush, PhD, Postdoctoral Fellow, Developmental and Regenerative Biology, both at Mount Sinai School of Medicine, studied mice embryos that were genetically engineered to have a mutation in the ephrin-B1 gene. They determined that ephrin-B1 controls craniofacial development by signaling cells to multiply. When there is a mutation in this gene, it causes anomalies in the cell proliferation process.

"Common thinking has been that ephrin-B1 only guided cells in craniofacial development," said Dr. Soriano. "We were surprised to learn that, instead, this gene signals for cells to multiply, providing us with a clear understanding of why craniofacial development is abnormal when a mutation is present."

Drs. Bush and Soriano also wanted to determine why females with one normal copy of the ephrin-B1 gene are more severely malformed than males who have no copy of the gene at all. They found that female mice embryos with this type of mutation had a so-called "mosaic" cell proliferation, meaning cell multiplication is disrupted in some areas while developing normally in others. This creates abnormal craniofacial development.

"Craniofacial anomalies are among the most common human birth defect," said Dr. Bush. "Our findings represent a critical step forward in understanding how and other malformations develop, and will hopefully bring us closer to finding ways to prevent or treat these abnormalities."

Drs. Bush and Soriano plan to study ephrin-B1 further by identifying which molecules work in conjunction with it and how. Gaining a further understanding of the signaling mechanisms of this gene will likely lead to designing prevention and treatment strategies.

Explore further: In-womb birth defect treatments possible

Related Stories

In-womb birth defect treatments possible

October 16, 2006

British-led research into cleft lip and palate might lead to babies with certain craniofacial disorders being successfully treated in the womb.

Breakthrough in birth-defect research

March 6, 2008

Scientists have discovered how to prevent certain craniofacial disorders in what could ultimately lead to at-risk babies being treated in the womb.

Can cleft palate be healed before birth?

December 1, 2009

In a study newly published in the journal Development, investigators at the USC School of Dentistry describe how to non-surgically reverse the onset of cleft palate in fetal mice - potentially one step in the journey to a ...

Growth factor gene shown to be a key to cleft palate

February 2, 2010

Cleft palate has been linked to dozens of genes. During their investigation of one of these genes, researchers at Washington University School of Medicine in St. Louis were surprised to find that cleft palate occurs both ...

Recommended for you

How the finch changes its tune

August 3, 2015

Like top musicians, songbirds train from a young age to weed out errors and trim variability from their songs, ultimately becoming consistent and reliable performers. But as with human musicians, even the best are not machines. ...

Machine Translates Thoughts into Speech in Real Time

December 21, 2009

(PhysOrg.com) -- By implanting an electrode into the brain of a person with locked-in syndrome, scientists have demonstrated how to wirelessly transmit neural signals to a speech synthesizer. The "thought-to-speech" process ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.