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Updated: Apr 5, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
The Role of Cardiolipin in Cardiovascular Health
Zheni Shen1, Cunqi Ye2, Keanna McCain1
1Department of Biological Sciences, Wayne State University, Detroit, MI 48202, USA.
Insights
Cardiolipin (CL), vital for mitochondria, impacts cardiovascular health. Dysfunctional CL, seen in Barth syndrome and other heart diseases, highlights its critical role in cardiac function and disease pathogenesis.
Area of Science:
- Biochemistry
- Molecular Biology
- Cardiology
Background:
- Cardiolipin (CL) is a key phospholipid in mitochondrial membranes, essential for mitochondrial function and extramitochondrial cellular processes.
- Genetic defects in CL metabolism, such as Barth syndrome (BTHS), cause severe cardiovascular conditions like cardiomyopathy.
- CL is implicated in various cardiovascular diseases (CVDs), including atherosclerosis and heart failure.
Purpose of the Study:
- To review the role of cardiolipin in the pathogenesis of cardiovascular diseases.
- To explore the molecular mechanisms linking cardiolipin function to cardiovascular health.
Main Methods:
- Literature review focusing on cardiolipin's role in cardiovascular health and disease.
- Analysis of molecular pathways involving cardiolipin, such as mitochondrial bioenergetics, autophagy/mitophagy, and MAPK signaling.
Main Results:
- Mutations in tafazzin, affecting CL remodeling, lead to Barth syndrome with cardiac and skeletal myopathy.
- Cardiolipin's functions in mitochondrial energy production and cellular signaling pathways are crucial for cardioprotection.
- Dysregulation of CL is associated with diverse cardiovascular pathologies.
Conclusions:
- Cardiolipin plays a fundamental role in maintaining cardiovascular health.
- Understanding CL's molecular mechanisms offers insights into CVD pathogenesis and potential therapeutic targets.
Abstract:
Cardiolipin (CL), the signature phospholipid of mitochondrial membranes, is crucial for both mitochondrial function and cellular processes outside of the mitochondria. The importance of CL in cardiovascular health is underscored by the life-threatening genetic disorder Barth syndrome (BTHS), which manifests clinically as cardiomyopathy, skeletal myopathy, neutropenia, and growth retardation. BTHS is caused by mutations in the gene encoding tafazzin, the transacylase that carries out the second CL remodeling step. In addition to BTHS, CL is linked to other cardiovascular diseases (CVDs), including cardiomyopathy, atherosclerosis, myocardial ischemia-reperfusion injury, heart failure, and Tangier disease. The link between CL and CVD may possibly be explained by the physiological roles of CL in pathways that are cardioprotective, including mitochondrial bioenergetics, autophagy/mitophagy, and mitogen activated protein kinase (MAPK) pathways. In this review, we focus on the role of CL in the pathogenesis of CVD as well as the molecular mechanisms that may link CL functions to cardiovascular health.
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