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Genes Behind Heart Defect In Down Syndrome Identified
Down syndrome occurs when individuals have three, instead of the usual two, copies of human chromosome 21.
Chromosome 21 is the shortest human chromosome and intensive genetic mapping studies in people with Down syndrome have identified a small region of this chromosome that plays a critical role in causing congenital heart defects, said Ethan Bier, a biology professor at UC San Diego and one of the principal authors of the study. This Down syndrome region for congenital heart disease, called the DS-CHD critical region, contains several genes that are active in the heart which our collaborator, Julie Korenberg, had suspected of interacting with each other to disrupt cardiac development or function when present in three copies. But exactly which of these half dozen or so genes are the culprits?
Identifying the genes within the DS-CHD critical region contributing to congenital heart defects is challenging to address using traditional mammalian experimental models, such as mice, added Bier, since the number of possible genetic combinations that would need to be generated and tested is very large.
To simplify their search, the scientists turned to fruit flies, a simpler and rapidly reproducing biological system with many of the same genes as mice and humans. With help from collaborators Amir Gamliel,Geoff Rosenfeld and Kirk Peterson at the UC San Diego School of Medicine, Rolf Bodmer and Karen Ocorr at the Sanford-Burnham Medical Research Institute, and Julie R. Korenberg at the University of Utah, biologist Tamar Grossman in Biers lab devised a sequential genetic approach to untangle the problem.
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More News on: Congenital Heart Disease, Heart, Healthy Heart , Down Syndrome, Lifestyle Paths to Heart Disease, Statins, Mitral Valve Prolapse, Aortic Valve Stenosis
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