Researchers at theHadassahMedicalCenter have identified the gene mutation that causes one of 20Caucasus Jewish babies to be born with cerebellum atrophy, a severe brain defect.

The researchers examined DNA samples of infants from Caucasia who suffered from neurological disorders, mostly associated with mental retardation, seizures, spasticity, and brain and cerebellum atrophy. They found that there was an identical genomic area among all the infants, and that one genetic mutation was responsible for their disorders. Based on these findings, they then examined the DNA of 80 Jews from the Caucasus and found that 4 of them carried the mutation. The researchers caution, however, that this was a small sample and the frequency of the gene mutation might vary in a larger sample.

The team of researchers includes Prof. Orly Elpeleg, head of Hadassah’s Department of Genetics and Metabolic Diseases and her colleagues, Dr. Avraham Shaag and Dr. Shamir Zenvirt, in collaboration with Prof. Ophry Pines of the Department of Microbiology and Molecular Genetics at the Hebrew University School of Medicine.  During the past three years, the research team at Hadassah, headed by Prof. Elpeleg, have found 15 genetic mutations that cause children’s illnesses.  This latest finding was published in the November issue of the American Journal of Human Genetics.

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