Experimental models of Barth syndrome
Abstract
Mutation of the gene Tafazzin (TAZ) causes Barth syndrome, an X‐linked disorder characterized by cardiomyopathy, skeletal muscle weakness, and neutropenia. TAZ is an acyltransferase that catalyzes the remodeling of cardiolipin, the signature phospholipid of the inner mitochondrial membrane. Here, we review the major model systems that have been established to study the role of cardiolipin remodeling in mitochondrial function and the pathogenesis of Barth syndrome. We summarize key features of each model and provide examples of how each has contributed to advance our understanding of TAZ function and Barth syndrome pathophysiology.
Document Details
- Document Type
- Pub Defense Publication
- Publication Date
- Aug 15, 2021
- Source ID
- 10.1002/jimd.12423
Entities
People
- William T. Pu
Organizations
- Barth Syndrome Foundation
- Boston Children's Hospital
- Harvard University
- National Heart, Lung, and Blood Institute
- United States Department of Defense