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Phospholipid abnormalities in children with Barth syndrome
- Source :
- Journal of the American College of Cardiology, 42(11), 1994-1999. Elsevier USA
- Publication Year :
- 2003
-
Abstract
- OBJECTIVES: We sought to identify characteristic lipid abnormalities in patients with Barth syndrome (BTHS) and to correlate the lipid profile to phenotype and genotype. BACKGROUND: Barth syndrome typically includes cardiomyopathy, skeletal myopathy, neutropenia, growth retardation, and 3-methylglutaconic aciduria, and it is commonly associated with mutations in the tafazzin (TAZ) gene, whose products are homologous to phospholipid acyltransferases. However, clinical features of BTHS have also been found in patients with normal TAZ gene. METHODS: We analyzed molecular species of phospholipids in left and right ventricle, skeletal muscle, platelets, lymphoblasts, and fibroblasts from 19 children with BTHS (positive TAZ mutation), 6 children with BTHS-like syndromes (wild-type TAZ), 4 children with isolated cardiomyopathy (wild-type TAZ), and various controls. RESULTS: Cardiolipin, the specific lipid found only in mitochondria, was decreased in all tissues from BTHS patients, whereas concentrations of other phospholipids were normal. The molecular composition of cardiolipin was altered in all tissues from BTHS patients. The molecular compositions of phosphatidylcholine and phosphatidylethanolamine were altered in the heart. Cardiolipin abnormalities were only found in children with true BTHS, not in children with BTHS-like disease or with isolated cardiomyopathy. The degree of cardiolipin deficiency was tissue-specific but did not correlate with severity or specific phenotypic expression of BTHS. CONCLUSIONS: Abnormal cardiolipin is a specific diagnostic marker of cardiomyopathies caused by TAZ mutations. These mutations lead to alterations in the fatty acid composition of several phospholipids, supporting the idea that TAZ encodes a human acyltransferase
- Subjects :
- Blood Platelets
medicine.medical_specialty
Neutropenia
Cardiolipins
Heart Ventricles
Cardiomyopathy
Tafazzin
Mitochondrion
medicine.disease_cause
Glutarates
chemistry.chemical_compound
Muscular Diseases
Internal medicine
Cardiolipin
Medicine
Lymphocytes
Muscle, Skeletal
Growth Disorders
Phospholipids
Mutation
biology
business.industry
Myocardium
Monolysocardiolipin
Proteins
Barth syndrome
Syndrome
Fibroblasts
CHILD syndrome
medicine.disease
Endocrinology
chemistry
biology.protein
lipids (amino acids, peptides, and proteins)
Cardiomyopathies
Cardiology and Cardiovascular Medicine
business
Acyltransferases
Transcription Factors
Subjects
Details
- Language :
- English
- ISSN :
- 07351097
- Volume :
- 42
- Issue :
- 11
- Database :
- OpenAIRE
- Journal :
- Journal of the American College of Cardiology
- Accession number :
- edsair.doi.dedup.....f026d129d0f8c80744ab9ff7404021c8