Protein defect found in brain disorders

Protein defect found in brain disorders

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Protein defect found in brain disorders United Press International 03-11-2010
Posted by United Press International on March 11, 2010, 5:44 pm
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        LONDON, Ontario, March 11 (UPI) -- Canadian researchers say
they have found a diverse group of brain disorders thought to be
unrelated are all linked to defective chromatin proteins.
        University of Western Ontario scientists said four disorders
-- Rett syndrome, Cornelia de Lange syndrome, Alpha-Thalassemia
mental retardation and X-linked syndrome -- are all characterized by
distinct abnormalities in chromatin, the spools of proteins and DNA
of which chromosomes are made. They said the chromatin controls how
a cell's genetic information is read, and any defects in chromatin
lead to cognitive and functional defects.
        "Although clearly distinct from one another, human
developmental disorders that are linked with chromatin dysfunction
often share similar cognitive clinical features," said Nathalie
Berube, the study's senior author. "Whether the overlapping
cognitive symptoms are due to underlying interlinked molecular
mechanisms is still poorly understood."
        Berube said the "failure to properly suppress genes that are
essential during embryonic development, but potentially detrimental
in the mature brain, might contribute to cognitive deficiencies
characteristic of the three syndromes.
        She said further studies are needed to gain a better
understanding of the specific role of the chromatin proteins and the
molecular pathogenesis of the associated human disorders.
        The study appeared in the Feb. 16 issue of the journal
Developmental Cell.
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