[ RadSafe ] RE: birth defects in Basrah

Franta, Jaroslav frantaj at aecl.ca
Thu Apr 5 07:57:21 CDT 2007

>3.  Are there any alternative hypotheses for the birth defect
>increases in Basrah, U.S., and U.K. troops which have not been ruled

As the researcher says, "spina bifida is a very, very common birth defect,
affecting one to two births out of every 1,000" and it "leads to...
anencephaly, a fatal condition in which part of the brain and the skull are

Gene shown to cause spina bifida
McGill team studied disorder for 10 years
RENE BRUEMMER, The Gazette, Thursday, April 05, 2007

McGill University researchers have identified a gene that causes the
developmental disorder spina bifida, the second-most-prevalent birth defect
after cardiac abnormalities.

The discovery is expected to aid in the diagnosis of the disease, which in
its most severe form can lead to crippling disabilities. It could also be
used to identify parents who have a relatively high chance of having a child
with spina bifida.

The findings are to be published this month in the New England Journal of

"We've known for years that there's a genetic component, and now we've
discovered one of the culprits," said Philippe Gros, the James McGill
professor of biochemistry who led the team of post-doctoral researchers.

They worked in co-operation with researchers at the Istituto Giannina
Gaslini in Genoa, Italy.

The discovery does not constitute a cure, Gros emphasized, but gives
researchers a focal point that could speed the search for one.

"It provides us with a better understanding of what is going on and tells us
where to look in the cell," Gros said.

"It points the way at focusing research on a specific pathway, and that in
itself is a very significant step toward doing something positive for this
disease." Spina bifida, a Latin term meaning open spine, is a birth defect
in which the spine does not form completely, leaving the spinal cord exposed
and prone to damage. Effects range from minor afflictions - such as bladder
problems - that can be corrected with surgery to severe physical deformation
and paralysis.

The disorder is caused by a defect in the embryonic neural tube that occurs
during the first four weeks of pregnancy, when the brain and the spinal cord
are developing.

Because of its early onset, the condition is difficult to treat and detect.
Initial indications of spina bifida generally turn up only during the first
ultrasound at about 18 weeks, by which time permanent damage has already

The McGill discovery comes after 10 years of study - first on mice - by Gros
and three post-doctoral students at the university, during which Gros's lab
became the first to clone the gene for laboratory studies.

Further studies were conducted on a group of 100 patients with neural tube
defects, the malformation that leads to spina bifida and anencephaly, a
fatal condition in which part of the brain and the skull are absent.
Scientists were seeking alterations in the same gene in humans.

The team identified three mutations in the VANGL1 gene that implicates the
gene as a risk factor in human neural tube defects. It's the first gene that
has been shown to cause the disorder in humans. The researchers have
expanded their tests to a group of 250 patients for continuing study.

"This is very exciting, because spina bifida is a very, very common birth
defect, affecting one to two births out of every 1,000," said Rima Rozen,
associate vice-principal for research at McGill and a medical investigator
who has worked on spina bifida.

"When they identify the role of this particular gene, they may be able to
come up with ways to prevent this problem." Folic acid supplements have been
shown to reduce the risk of spina bifida by 50 to 70 per cent. Women are
advised to start taking the supplements as soon as they start planning
pregnancy "and not as soon as they find out they're pregnant, because by
then it might already be too late," Rozen said.

Gros obtained his Ph.D. in biochemistry from McGill in 1983, then went to
Harvard University and the Massachusetts Institute of Technology to complete
his post-doctoral work before returning to McGill in 1986.
A mouse geneticist by training, Gros said the fact his research has
translated to the human field is especially gratifying.

"In this case, it really is a spectacular example of how you can use the
mouse as a model, then make an important contribution in the understanding
of a corresponding human disease - and that's very satisfying to us."

rbruemmer at thegazette.canwest.com


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