A gene critical for heart function

DOT1L is a gene that has been linked to leukemia, and now has been linked to heart defects.  Researchers at the University of North Carolina created a line of mice that lack DOT1L, and also were genetically prone to dilated cardiomyopathy.  Dilated cardiomyopathy is a condition in which the heart is enlarged causing the walls of the heart to thin and also weakens its ability to pump blood.  However, by re-expressing Dystrophin, a downstream target gene, the researchers were able to keep the mice from developing the heart defect.  They also found that the DOT1L enzyme activates the gene and when levels fall to low the Dystrophin fails to function leading to heart disease.  Samples of human heart tissue were also examined showing that the role of DOT1L is similar in humans and in mice.

This article is interesting because it could be a break through in developing better ways of diagnosis and treatment of dilated cardiomyopathy and other heart defects, and may also prove important with muscluar distrophy, which has to do with Dystrophin function as well. 



 DOT1L                                                    Dystrophin