A review of disorders of cardiolipin metabolism: Pathophysiology, clinical presentation and future directions

IF 3.7 2区生物学 Q2 ENDOCRINOLOGY & METABOLISM

Molecular genetics and metabolism Pub Date : 2025-06-28 DOI:10.1016/j.ymgme.2025.109184

Olivia Sniezek Carney , Kodi Harris , Madison Santizo , Valeria Silva , Jhanay Davis , Kyuna Lee , Sharada Vishwanath , Anne Hamacher-Brady , Hilary J. Vernon

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引用次数: 0

Abstract

Cardiolipin is a mitochondria-specific phospholipid essential for maintaining mitochondrial membrane architecture, supporting respiratory chain function, and regulating apoptotic signaling. Its biosynthesis and remodeling are mediated by a coordinated set of enzymes, and disruptions in this pathway are increasingly recognized as causes of inherited mitochondrial diseases. This review provides a comprehensive overview of the genetic disorders associated with defects in cardiolipin metabolism, highlighting genetic and molecular characteristics, clinical manifestations, and available models with which to study these diseases. We examine the roles of key genes involved in cardiolipin biosynthesis (PGS1, CRLS1) and remodeling (TAZ, AGK, among others), and describe how pathogenic variants disrupt mitochondrial function. The prototypical disorder, Barth syndrome, is discussed in depth alongside recently identified conditions linked to defects in related enzymes.

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心磷脂代谢紊乱：病理生理、临床表现及未来发展方向

心磷脂是线粒体特异性磷脂，对维持线粒体膜结构、支持呼吸链功能和调节凋亡信号至关重要。它的生物合成和重塑是由一组协调的酶介导的，这一途径的破坏越来越被认为是遗传性线粒体疾病的原因。本文综述了与心磷脂代谢缺陷相关的遗传疾病，重点介绍了遗传和分子特征、临床表现以及研究这些疾病的可用模型。我们研究了参与心磷脂生物合成（PGS1, CRLS1）和重塑（TAZ， AGK等）的关键基因的作用，并描述了致病变异如何破坏线粒体功能。典型的疾病，Barth综合征，将与最近发现的与相关酶缺陷相关的疾病一起深入讨论。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular genetics and metabolism 生物-生化与分子生物学

CiteScore

5.90

自引率

7.90%

发文量

621

审稿时长

34 days

期刊介绍： Molecular Genetics and Metabolism contributes to the understanding of the metabolic and molecular basis of disease. This peer reviewed journal publishes articles describing investigations that use the tools of biochemical genetics and molecular genetics for studies of normal and disease states in humans and animal models.