COLUMBUS, Ohio — A study published in the Circulation Research explained how mutations in the NOTCH1 gene can lead to abnormal differentiation and rapid growth of cardiomyocyte, the cell responsible for the contraction of the heart.
What You Need To Know
- A NOTCH1 gene is a type of protein in the human organs
- New studies were found in congenital heart defects from the Nationwide Children’s Hospital
- Mutations of the NOTCH1 gene can cause rapid heart rate
Dr. Vidu Garg, a pediatric cardiologist and director of the Center for Cardiovascular Research at Nationwide Children’s Hospital, was the head author of a publication in Nature that first described the connection between NOTCH1 mutations and congenital heart disease in 2005.
“In this recent study, we investigated how loss of NOTCH1 may actually cause the heart to form abnormally using human cells,” said Mingtao Zhao, DVM, Ph.D., of the Center for Cardiovascular Research at Nationwide Children’s.
The hospital said Zhao and other colleagues used gene editing to delete NOTCH1 in human-induced pluripotent stem cells and then differentiate the cells into cardiomyocyte.
The hospital said the group found “NOTCH1 disruption blocks human ventricular-like cardiomyocyte differentiation but promotes the generation of atrial-like cardiomyocytes.”
“These findings provide some insight on the disease mechanisms underlying severe types of congenital heart defects where the left side of the heart is not well formed, such as hypoplastic left heart syndrome,” said Zhao.
The first human-induced pluripotent stem cells was established by Zhao at the Center for Cardiovascular Research. A large induced pluripotent stem cells repository was created by using blood samples from more than 100 patients with congenital heart disease.
