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Blood vessel abnormalities that lead to deformed limbs in...

By JERRY BERGER

BOSTON -- Blood vessel abnormalities that lead to deformed limbs in mice may provide researchers with a clue to dealing with genetic defects that cause malformed limbs in human beings, researchers said Tuesday.

A Massachusetts General Hospital newsletter reported that researchers studying defective genes in mice discovered blood vessel deformities in areas where bones had failed to develop.

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Instead of a fully developed vessel, the researchers said, they found a fine network of embryonic vessels that should have disappeared earlier in development to make way for the limbs.

Animals with severely malformed hind legs caused by the deformed gene also possessed an extra blood vessel not normally seen in the area where the bone should have formed, the study indicated.

And researchers have also discovered a method of predicting limb deformities in mice 24 or 36 hours in advance in a breeding technique involving a defective gene.

Doctors David J. Zaleske and Lewis B. Holmes stressed the implications of their findings remain unclear, although it is known that human birth defects can be linked to a large number of genetic problems.

'Over and over, the general rule of thumb in medicine has been that once you understand how something happens, you have taken the first step toward being able to prevent it.'

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The findings come at a time when scientists and health professionals are arguing over whether the number of babies born with physical or mental disabilities has doubled in the past 25 years.

Those who argue against that increase claim the definitions used in compiling the statistics are too broad and that the increase may reflect a rise in the number of diagnosed cases.

Zaleske said further research will concentrate on the specific types of abnormalities that occur in animals with the damaged limbs because the affliction has analogies to human limb defects at birth.

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