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article imageRare genetic disease discovered

By Tim Sandle     Mar 19, 2014 in Health
Tel Aviv - Researchers in Israel have unraveled the genetic basis of a hereditary disease that causes severe brain atrophy, mental retardation and epilepsy in Jews of Moroccan ancestry.
The disease is coded PCCA2 (Progressive Cerebello-Cerebral Atrophy Type 2). The condition is caused by two mutations and it results in defective circulation within patents' cells, leading to detrimental excessive storage of "junk" within the cells. It is estimated that one of every 37 Moroccan Jews carries one of the two mutations and based on the high carrier rate.
With the disease, children who contract the disease are seemingly fine at birth and develop well until about six months of age. However, deterioration begins soon after with brain atrophy, severe retardation and epilepsy by age one.
Atrophy is the partial or complete wasting away of a part of the body. Causes of atrophy include mutations (which can destroy the gene to build up the organ), poor nourishment, poor circulation, loss of hormonal support, loss of nerve supply to the target organ, excessive amount of apoptosis of cells, and disuse or lack of exercise or disease intrinsic to the tissue itself.
Based on the findings, the researchers think that carrier testing and prenatal diagnosis of PCCA2 will enable eradication of this severe disease. They have recommended to the Israeli government that such testing takes place.
The research was carried out by researchers based at Ben-Gurion University of the Negev. The findings have been reported to the Journal of Medical Genetics, in a paper titled “VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).”
More about Genetic diseases, Rare disease, Jewish, Moroccan
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