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

Anders O Garlid; Calvin T Schaffer; Jaewoo Kim; Hirsh Bhatt; Vladimir Guevara-Gonzalez; Peipei Ping

doi:10.1016/j.gene.2019.144148

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.

Authors

Anders O Garlid¹, Calvin T Schaffer², Jaewoo Kim², Hirsh Bhatt², Vladimir Guevara-Gonzalez³, Peipei Ping⁴

Affiliations

¹ Cardiovascular Data Science Training Program at UCLA, University of California at Los Angeles, CA 90095, USA; Department of Physiology, University of California at Los Angeles, CA 90095, USA. Electronic address: aogarlid@g.ucla.edu.
² Cardiovascular Data Science Training Program at UCLA, University of California at Los Angeles, CA 90095, USA; Department of Physiology, University of California at Los Angeles, CA 90095, USA.
³ Cardiovascular Data Science Training Program at UCLA, University of California at Los Angeles, CA 90095, USA; Department of Mathematics, University of California at Los Angeles, CA 90095, USA.
⁴ Cardiovascular Data Science Training Program at UCLA, University of California at Los Angeles, CA 90095, USA; Department of Physiology, University of California at Los Angeles, CA 90095, USA; Department of Medicine/Cardiology, University of California at Los Angeles, CA 90095, USA; Department of Bioinformatics, University of California at Los Angeles, CA 90095, USA; Scalable Analytics Institute (ScAi), University of California at Los Angeles, CA 90095, USA. Electronic address: ppingucla@gmail.com.

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

Abstract

Publication types

MeSH terms

Substances

Grants and funding