Role of in Mitochondrial Function, Development and Disease

Overview

Journal J Dev Biol

Specialty Biology

Date 2020 May 28

PMID 32456129

Citations 10

Authors

Michael T Chin

Simon J Conway

Affiliations

Soon will be listed here.

Abstract

, an enzyme associated with the rare inherited x-linked disorder Barth Syndrome, is a nuclear encoded mitochondrial transacylase that is highly conserved across multiple species and plays an important role in mitochondrial function. Numerous studies have elucidated the mechanisms by which affects mitochondrial function, but its effects on development and susceptibility to adult disease are incompletely understood. The purpose of this review is to highlight previous functional studies across a variety of model organisms, introduce recent studies that show an important role in development, and also to provide an update on the role of in human disease. The profound effects of on cardiac development and adult cardiac homeostasis will be emphasized. These studies underscore the importance of mitochondrial function in cardiac development and disease, and also introduce the concept of as a potential therapeutic modality.

Citing Articles

Cell-Penetrating Peptide Enhances Tafazzin Gene Therapy in Mouse Model of Barth Syndrome.

Raghav R, Awata J, Martin G, Strathdee D, Blanton R, Chin M Int J Mol Sci. 2025; 25(24.

PMID: 39769321 PMC: 11678443. DOI: 10.3390/ijms252413560.

The Loss of Tafazzin Transacetylase Activity Is Sufficient to Drive Testicular Infertility.

Snider P, Sierra Potchanant E, Matias C, Edwards D, Brault J, Conway S J Dev Biol. 2024; 12(4).

PMID: 39728085 PMC: 11677720. DOI: 10.3390/jdb12040032.

A Barth Syndrome Patient-Derived Point Mutation in Drives Progressive Cardiomyopathy in Mice.

Snider P, Sierra Potchanant E, Sun Z, Edwards D, Chan K, Matias C Int J Mol Sci. 2024; 25(15).

PMID: 39125771 PMC: 11311365. DOI: 10.3390/ijms25158201.

Novel Role for Cardiolipin as a Target of Therapy to Mitigate Myocardial Injury Caused by Venoarterial Extracorporeal Membrane Oxygenation.

Swain L, Bhave S, Qiao X, Reyelt L, Everett K, Awata J Circulation. 2024; 149(17):1341-1353.

PMID: 38235580 PMC: 11039383. DOI: 10.1161/CIRCULATIONAHA.123.065298.

Single Cell Transcriptomic Analysis in a Mouse Model of Barth Syndrome Reveals Cell-Specific Alterations in Gene Expression and Intercellular Communication.

Perera G, Power L, Larson A, Codden C, Awata J, Batorsky R Int J Mol Sci. 2023; 24(14).

PMID: 37511352 PMC: 10380964. DOI: 10.3390/ijms241411594.

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