Comparison of lymphoblast mitochondria from normal subjects and patients with Barth syndrome using electron microscopic tomography

• Published in: Laboratory investigation Vol. 87; no. 1; pp. 40 - 48
• Main Authors: Acehan, Devrim, Xu, Yang, Stokes, David L, Schlame, Michael
• Format: Journal Article
• Language: English
• Published: New York Elsevier Inc 01.01.2007; Nature Publishing Group US; Nature Publishing; Nature Publishing Group
• Subjects: Acyltransferases; Biological and medical sciences; Biotechnology; cardiomyopathy; Cardiomyopathy, Dilated - genetics; Cardiomyopathy, Dilated - pathology; Cell Line, Transformed - ultrastructure; Child; Child, Preschool; electron microscopic tomography; Fundamental and applied biological sciences. Psychology; Genetic Diseases, X-Linked - pathology; Genetic Diseases, X-Linked - ultrastructure; Humans; Image Processing, Computer-Assisted; Imaging, Three-Dimensional; Infant; Investigative techniques, diagnostic techniques (general aspects); Laboratory Medicine; Lymphocyte Activation; Lymphocytes - ultrastructure; Male; Medical sciences; Medicine; Medicine & Public Health; Microscopy, Electron; Mitochondria - pathology; Mitochondria - ultrastructure; mitochondrial disease; Mitochondrial Diseases - genetics; mitochondrial ultrastructure; Pathology; Proteins - genetics; research-article; skeletal myopathy; Syndrome; Tomography, Optical; Transcription Factors - genetics; mitochondrial ultrastructure; cardiomyopathy; skeletal myopathy; mitochondrial disease; electron microscopic tomography; Biotechnology; Cardiomyopathy; Cardiovascular disease; Hemopathy; Lymphoblast; Enzymopathy; Myocardial disease; Mitochondrial disorder; Osteoarticular system; Barth syndrome; Mitochondria; Ultrastructure; Heart disease; Clinical biology; Tomography; Skeleton; Human; Metabolic diseases; Electron microscopy; Normal; Genetic disease; Striated muscle disease; Bone; Comparative study; Myopathy

Barth syndrome (BTHS) is a mitochondrial disorder that is caused by mutations in the tafazzin gene, which affects phospholipid composition. To determine whether this defect leads to alterations in the internal three-dimensional organization of mitochondrial membranes, we applied electron microscopic...