TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome

Gene. 2020 Feb 5;726:144148. doi: 10.1016/j.gene.2019.144148. Epub 2019 Oct 21.

Abstract

Tafazzin, which is encoded by the TAZ gene, catalyzes transacylation to form mature cardiolipin and shows preference for the transfer of a linoleic acid (LA) group from phosphatidylcholine (PC) to monolysocardiolipin (MLCL) with influence from mitochondrial membrane curvature. The protein contains domains and motifs involved in targeting, anchoring, and an active site for transacylase activity. Tafazzin activity affects many aspects of mitochondrial structure and function, including that of the electron transport chain, fission-fusion, as well as apoptotic signaling. TAZ mutations are implicated in Barth syndrome, an underdiagnosed and devastating disease that primarily affects male pediatric patients with a broad spectrum of disease pathologies that impact the cardiovascular, neuromuscular, metabolic, and hematologic systems.

Keywords: Apoptosis; Clinical case reports; Mitochondrial biology; Rare mitochondrial diseases.

Publication types

  • Review

MeSH terms

  • Acyltransferases / genetics*
  • Animals
  • Apoptosis / genetics
  • Barth Syndrome / etiology*
  • Barth Syndrome / genetics*
  • Barth Syndrome / metabolism*
  • Cardiolipins / genetics*
  • Humans
  • Mitochondria / genetics*
  • Signal Transduction / genetics
  • Transcription Factors / genetics*

Substances

  • Cardiolipins
  • Transcription Factors
  • Acyltransferases