Israeli researchers have identified the genetic mutation that increases the risk of having a child with a rare degenerative disease that affects cerebral function and is found among Jews from the Middle East or North Africa.
The findings, which will be published this week in the American Journal of Human Genetics, will make it possible for Israeli couples of Middle Eastern or North African descent to undergo genetic testing to screen for autosomal-recessive progressive cerebellocerebral atrophy, or PCCA.
"In cases where both members of a couple are known to carry the mutation, it will be possible to advise the couple about pregnancy... to see whether the fetus suffers from the defect, and terminate the pregnancy, if needed," said lead researcher Ohad Birk, who heads the Genetics Institute at Soroka Medical Center in Be'er Sheva.
"Quite possibly, understanding the disease mechanism will enable new, innovative care techniques to be developed, and bring an end to the advance of the degenerative disease."
If both members of a couple carry the mutation, they have a 25 percent chance of passing on the disease.
The researchers made the discovery after studying families of Iraqi or North African descent from central and southern Israel.
It is estimated that one of every 40 Israelis of Iraqi or North African descent carries the mutation, and about 100 Israelis suffer from PCAA.
The disease is diagnosed by MRI exams conducted on babies at least six months old.
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