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Gene Critical in Protection Against Some Heart Diseases Identified

by Kathy Jones on February 6, 2011 at 5:32 PM
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 Gene Critical in Protection Against Some Heart Diseases Identified

A gene which is critical to heart function has been identified by researchers at University of North Carolina at Chapel Hill School of Medicine.

In mice that were predisposed to dilated cardiomyopathy, the team found that the gene was absent.

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The big discovery came when the researchers were able to prevent the mice from developing the disease by re-expressing a single downstream target gene, Dystrophin.

"We saw this phenotype in the heart and it could be attributed to anywhere between 1 and 1,000 genes. But when we just added back this one gene, the heart function was completely rescued," said Anh Nguyen.
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They found that If DOT1L levels fall too low, Dystrophin ceases to perform its function, eventually leading to heart disease.

The discovery has implications for patients with dilated cardiomyopathy and other conditions.

"If you could manipulate the function of DOT1L, then you could essentially regulate everything else downstream, including Dystrophin or other genes," said Nguyen.

Researchers found the similarity in patients too. Those with dilated cardiomyopathy had lower levels of DOT1L than patients with no underlying heart condition.

The results appear in the Feb. 1, 2011 issue of the journal Genes and Development.

Source: ANI
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