http://www.hadassah.org.il/English/Eng_MainNavBar/News/Press+messages/Geneti
c+Mutation.htm

19/10/2010
 

 
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 genetics and Metabolic Diseases 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
Genetics. The team of researches included Prof. Orly El-Peleg, Head of the
Department of Genetics and Metabolic Diseases at the 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.

 

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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