Epilepsy and Mental Retardation - Genetic Cause Identified

A genetic mutation that causes severe mental retardation and epilepsy at infancy has been identififed by researchers.

The team, led by Ohad Birk of the Ben-Gurion University, determined that the defect is associated with the production of the 21st amino acid, selenocysteine (SEC), which leads to progressive brain atrophy.

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Birk said: "One out of every 40 Jews of both Moroccan and Iraqi ancestry may be carriers of this mutation. As the disease is both severe and common, testing for these mutations is expected to become a routine prenatal genetic screening test in these two populations, enabling prevention of future cases."

As the disease is progressive, elucidation of its molecular mechanisms might open new venues to treatment, preventing disease progression.

The human genetic code, as deciphered some 50 years ago, encodes 20 amino acids, which are the building blocks of all proteins in the human body.

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However, in recent years it became apparent that a 21st amino acid exists: selenium, entering the body in food, is incorporated in the human tissues into what is known as selenocysteine.

This 21st amino acid is unique in that it is encoded by what is normally a stop codon - that is, a DNA sequence that normally instructs the protein building system to end the chain of amino acids, terminating the generated protein.

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In contrast with most genes, some 25 genes have a unique component that manipulates the stop codon so that instead of terminating the evolving protein chain, it inserts at that point an SEC building block.

The study was published in the American Journal of Human Genetics.

Source-ANI