(RxWiki News) Deficiencies in an enzyme known as DOT1L could put individuals at higher risk of certain types of heart disease, according to new research from the University of North Carolina School of Medicine.
In the study, mice lacking the DOT1L gene were genetically predisposed to dilated cardiomyopathy, a condition in which the heart expands like a balloon, causing the muscle's walls to become thin and pumping ability to lessen. About one in three cases of congestive heart failure is attributable to dilated cardiomyopathy.
Researchers discovered they were able to prevent the mice from developing dilated cardiomyopathy by re-expressing a single gene, Dystrophin.
Senior author Anh Nguyen, a graduate student working at University of North Carolina’s Lineberger Comprehensive Cancer Center, said that adding back Dystrophin restored heart function in the mice, which surprised researchers. She said normally a number of genes would have had to be added to see the same effect.
Dystrophin depends on the enzyme DOT1L to activate it, and if levels of the gene Dystrophin are too low, Dystrophin stops performing, leading to heart disease, according to the research.
About half of patients diagnosed with congestive heart failure die after one year and about 10 percent die within one year after diagnosis.
Xiao Xiao, PhD, Fred Eshelman Distinguished Professor of Gene Therapy in the division of molecular pharmaceutics in the University of North Carolina School of Pharmacy, Da-Zhi Wang, PhD, of Harvard Medical School, and Taiping Chen, PhD, of Norvartis Institutes for Biomedical Research also contributed to this research.
