Hadassah Researches Found a Genetic Mutation among Jews from the Caucasus, which Can Cause the Birth of Children with Brain Atrophy

15Oct10

A genetic mutation found in one of each 20 Caucasus Jews, is a reason for infants’ brain and cerebellum atrophy. Hadassah researchers from the department of human genetic identified the gene.

They checked DNA samples of Infants of Caucasus Jewish origin, who suffered from neurological disorders, mostly associated with mental retardation, seizures, spasticity and brain and cerebellum atrophy, that were sent to Hadassah from other hospitals in Israel.      

Hadassah researchers located an identical genomic area among all the infants, of which one genetic mutation was found to cause the tragic phenomenon. Based on these findings, the DNA of 80 anonymous Jews from the Caucasus was examined – 4 of them carried the mutation. It should be mentioned that this is a small sampling, and the frequency of the gene among the Caucasus Jews population might change in a larger sample.

The discovery enables families to take pre-natal diagnosis or pre-marriage tests for carrier detection. This is a significant relief for families who had to go through a long and torturous process of diagnosis.

The findings were published in the prestigious American Journal of Human. The team of researches included Prof. Orly El-Peleg, Head of the Department of Human Genetics and Metabolic Diseases at Hadassah  University Medical Center, and her colleagues Dr. Avraham Shaag, DR. Shamir Zenvirt, together with Prof. Ophry Pines, Department of Microbiology and Molecular Genetics, IMRIC, The Hebrew University Hadassah School of Medicine.

Prof. Orly El-Peleg

 Genetics

During the past three years the team of researchers at Hadassah, headed by Prof. Elpeleg, found 15 genes, that cause disabling children’s illnesses and diseases – some of them fatal.

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