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 three disorders -- Rett syndrome, Cornelia de Lange syndrome and Alpha-Thalassemia mental retardation 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.
