Molecular Therapy Succeeds in Preventing Craniofacial Birth Defect in Mice
Research by March of Dimes Grantee Offers Hope for Treatment of Children
WHITE PLAINS, N.Y., Feb. 6 /PRNewswire-USNewswire/ -- A new
gene-based technique has successfully prevented a rare craniofacial
birth defect in mice and holds promise to help children with the
same disorder, according to new research funded in part by the
March of Dimes.
The finding, which is being published in the journal Nature
Medicine, demonstrates the potential for translating basic research
into new treatments, said Michael Katz, M.D., senior vice president
for Research and Global Programs at the March of Dimes.
Paul A. Trainor, Ph.D., a March of Dimes research grantee, and a
team of scientists at the Stowers Institute for Medical Research in
Kansas City, Missouri, demonstrated that they could prevent
Treacher Collins syndrome (TCS) in mice by either inactivating a
gene associated with the disorder or by inhibiting a protein
produced by the gene.
In TCS, mutations in the TCOF1 gene on chromosome 5 causes a
high degree of cell death in the embryo, resulting in a deficiency
in a cell population called the neural crest that is essential for
generating most of the bone and cartilage that make up the head and
face. Dr. Trainor's team showed in 2006 that the loss of these
cells results in abnormal embryonic development of structures such
as the ear, nose, palate, and upper and lower jaws.
About one in 50,000 people is affected by TCS, also called
mandibulofacial dysostosis. The condition is characterized by
underdeveloped, malformed, or missing facial structures. Severely
affected children often require multiple reconstructive surgeries,
which may not fully correct the disorder.
In about 60 percent of cases, TCS results from new gene
mutations and occurs in people with no history of the disorder in
their family. Less frequently, TCS is inherited in an autosomal
dominant pattern, meaning that one parent has the disorder and has
passed a copy of the mutated gene to the child.
"Prevention of the neurocristopathy Treacher Collins syndrome
through inhibition of p53 function" by Natalie C. Jones, Paul A
Trainor, et al. was published February 3, 2008 online by Nature
Medicine, doi:10.1038/nm1725.
The March of Dimes is the leading nonprofit organization for
pregnancy and baby health. With chapters nationwide and its premier
event, March for Babies(sm), the March of Dimes works to improve
the health of babies. For the latest resources and information,
visit marchofdimes.com or nacersano.org.
Source: March of Dimes
CONTACT: Todd Dezen, +1-914-997-4608, tdezen@marchofdimes.com,
or
Elizabeth Lynch, +1-914-997-4286, elynch@marchofdimes.com, or
Robert Storace,
+1-914-997-4622, rstorace@marchofdimes.com,
all of March of Dimes
Web Site: http://www.marchofdimes.com/
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