Related Experiment Video

Updated: Jul 20, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

Barth syndrome, a human disorder of cardiolipin metabolism

Michael Schlame1, Mindong Ren

  • 1Department of Anesthesiology, New York University School of Medicine, 550 First Avenue, New York, NY 10016, USA. michael.schlame@med.nyu.edu

FEBS Letters
|September 16, 2006
PubMed

Insights

Barth syndrome, a genetic disorder, stems from tafazzin gene mutations, impacting cardiolipin in mitochondria. This leads to heart failure, myopathy, and growth issues, highlighting tafazzin's role in mitochondrial function.

Area of Science:

  • Biochemistry
  • Genetics
  • Cell Biology

Background:

  • Barth syndrome is an X-linked recessive disorder caused by mutations in the tafazzin gene.
  • It is characterized by reduced cardiolipin levels and altered cardiolipin composition in mitochondria.
  • Clinical manifestations include heart failure, myopathy, neutropenia, and growth retardation.

Purpose of the Study:

  • To provide an overview of the molecular basis of Barth syndrome.
  • To elucidate the role of the tafazzin gene and its protein product in cardiolipin metabolism.
  • To understand how tafazzin dysfunction impacts mitochondrial structure and function.

Main Methods:

  • Review of existing literature on Barth syndrome, tafazzin, and cardiolipin metabolism.
  • Analysis of the biochemical function of tafazzin as a phospholipid acyltransferase.
  • Examination of the consequences of tafazzin inhibition on cardiolipin remodeling and mitochondrial integrity.

Main Results:

  • Tafazzin is identified as a key enzyme in the acyl-specific remodeling of cardiolipin.
  • This remodeling process is crucial for maintaining structural uniformity and molecular symmetry of cardiolipin species.
  • Inhibition of tafazzin leads to impaired cardiolipin remodeling, affecting mitochondrial architecture and function.

Conclusions:

  • Tafazzin plays a critical role in maintaining mitochondrial health through cardiolipin remodeling.
  • Dysfunctional tafazzin disrupts cardiolipin homeostasis, leading to the pathologies observed in Barth syndrome.
  • Understanding this molecular pathway offers insights into potential therapeutic strategies for Barth syndrome.

More Related Videos

Quantification of Coenzyme A in Cells and Tissues08:51

Quantification of Coenzyme A in Cells and Tissues

Published on: September 27, 2019

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes10:56

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes

Published on: September 15, 2018

Related Concept Videos

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Overview of Lipid Metabolism01:24

Overview of Lipid Metabolism

Lipid metabolism is a crucial process in the human body that involves the synthesis and degradation of lipids. This process is essential for energy production, cell membrane formation, and hormone production, among other functions.
Lipolysis: The Breakdown of Lipids:
Lipolysis is the process of breaking down lipids, particularly triglycerides, into glycerol and fatty acids. This process typically occurs in the adipose tissue and is triggered by various hormones, including glucagon and...
Protein Import into the Peroxisomes01:27

Protein Import into the Peroxisomes

Cells contain membrane-bound organelles called peroxisomes that oxidize organic molecules by transferring hydrogen atoms to oxygen, producing hydrogen peroxide. Peroxisomes enzymatically convert the released hydrogen peroxide into water and oxygen.
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
Lipid Catabolism01:25

Lipid Catabolism

Triglycerides serve as crucial long-term energy storage molecules in microorganisms, providing a dense source of metabolic energy. Their breakdown is mediated by lipases, which hydrolyze triglycerides into glycerol and free fatty acids. Each of these components follows distinct metabolic pathways, ultimately contributing to ATP synthesis and cellular energy homeostasis.Glycerol MetabolismGlycerol, released from triglyceride hydrolysis, is phosphorylated by glycerol kinase to form...
Barrett Esophagus-I: Introduction01:21

Barrett Esophagus-I: Introduction

Barrett's esophagus is a medical condition where the esophageal mucosa is significantly damaged by stomach acid or other digestive fluids, often due to long-term exposure associated with gastroesophageal reflux disease (GERD). In GERD, a weakened or abnormally relaxed lower esophageal sphincter allows stomach acid to flow persistently into the esophagus.
This constant acid exposure transforms the esophagus's pink mucosal lining (stratified squamous epithelium) into a type of lining more similar...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...