Experimental models of Barth syndrome

J Inherit Metab Dis. 2022 Jan;45(1):72-81. doi: 10.1002/jimd.12423. Epub 2021 Aug 15.

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.

Keywords: Barth syndrome; cardiolipin; disease model; tafazzin.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Review

MeSH terms

  • Acyltransferases / genetics*
  • Acyltransferases / metabolism
  • Animals
  • Barth Syndrome / genetics*
  • Barth Syndrome / metabolism
  • Cardiolipins / metabolism
  • Disease Models, Animal*
  • Gene Knockout Techniques
  • Humans
  • Mitochondria / metabolism
  • Mitochondrial Membranes / metabolism
  • Mutation

Substances

  • Cardiolipins
  • Acyltransferases