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The Genes Behind Cleft Palate

September 17, 2010

(Ivanhoe Newswire) — Cleft palate affects one of every 1,000 newborns.  That means that 489 children born each day experience this.  A recent study explains why a certain gene mutation causes craniofrontonasal syndrome (CFNS), which is the reason for cleft palate and other malformations in the face, brain, and skeleton.

A mutation in a gene called ephrin-B1 causes abnormalities in the facial development. Although previous research has already concluded this, scientists were still uncertain how this occurred.  Researchers at the Mount Sinai School of Medicine studied mice embryo that were genetically engineered to have a mutation in the ephrin-B1 gene.  It was reported that ephrin-B1 controls craniofacial development by signaling cells to multiply . . . but when there is a mutation in this gene, abnormalities in the cell proliferation process begin to occur.

“Common thinking has been that ephrin-B1 only guided cells in craniofacial development,” which Dr. Philippe M. Soriano, PhD, Professor of Developmental and Regenerative Biology at Mount Sinai, was quoted as saying.  “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.”

Researchers also set out to determine why females with one normal copy of the ephrin-B1 gene are more severely malformed than their counterparts who have no copy of the gene at all.  The study showed that female mice embryos with this type of mutation had a so-called “mosaic” cell proliferation.  For those who aren’t scientists, this means that the 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[s],” which Dr. Jeffrey O. Bush, PhD, Postdoctoral Fellow of Developmental and Regenerative Biology at Mount Sinai, was quoted as saying.  “Our findings represent a critical step forward in understanding how cleft palate and other malformations develop, and will hopefully bring us closer to finding ways to prevent or treat those abnormalities.”

Both researchers plan to study ephrin-B1 further by identifying which molecules work in conjunction with it.  The next step after that: designing prevention and treatment strategies that could help 489 children a day.

SOURCE: Genes & Development, September 15




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