Mutant gene discovery in Jews may stop brain damage

[Guest guest]

Mutant gene discovery in Jews may stop brain damage

By JUDY SIEGEL-ITZKOVICH

10/11/2010 06:03

BGU research finds gene in Jews of Moroccan and Iraqi origin that may cause

serious mental retardation, epilepsy beginning at infancy.

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A mutant gene carried by one out of 40 Jews of Moroccan and Iraqi ancestries

that – if found in both parents – may cause serious mental retardation and

epilepsy beginning at infancy, has been discovered by a Ben- Gurion University

of the Negev team.

As the disease is both severe and common, testing for these mutations will

probably soon become a routine prenatal genetic screening test in these two

populations so that future cases can be prevented, by carriers either not

marrying each other or having children together, or by abortion or pre-genetic

diagnosis to choose healthy embryos for in-vitro fertilization.

Prof. Ohad Birk and doctoral student Orly Agamy of the National Institute for

Biotechnology in the Negev at BGU and colleagues at Soroka University Medical

Center in Beersheba demonstrated the first human disease associated with a

defect in the production of the 21st amino acid, selenocysteine (SEC). Their

work was published in the October 8 edition of the American Journal of Human

Genetics.

They believe that further research will identify other mutations in the same

gene as the cause in other ethnic communities of mental retardation with

epilepsy. As the disease is progressive, elucidation of its molecular mechanisms

might open new venues to treatment, preventing disease progression.

The human genetic code is made up of 20 amino acids that are the building blocks

of all proteins in the human body. 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. Healthy

expression of seleoproteins is crucial for the function of the neurons, they

write.

This 21st amino acid is unique in that it is encoded by what is normally a stop

codon – a DNA sequence that normally instructs the protein building system to

end the chain of amino acids, thus terminating the generated protein. 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 a SEC building block.

[Guest guest]

I just checked after reading this from this article;

" The human genetic code is made up of 20 amino acids that are the building

blocks of all proteins in the human body. 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. Healthy

expression of seleoproteins is crucial for the function of the neurons, they

write.

This 21st amino acid is unique in that it is encoded by what is normally a stop

codon – a DNA sequence that normally instructs the protein building system to

end the chain of amino acids, thus terminating the generated protein. 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 a SEC building block. "

http://www.jpost.com/HealthAndSci-Tech/Health/Article.aspx?id=190923

NV has the selenium from whole food (in the inactive yeast) so maybe 'that's'

another reason why it's working?!! OK two things to add to

http://pursuitofresearch.org/science.html today alone!!

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