Barth Syndrome: From Mitochondrial Dysfunctions Associated with Aberrant Production of Reactive Oxygen Species to Pluripotent Stem Cell Studies

• Published in: Frontiers in genetics Vol. 6; p. 359
• Main Authors: Saric, Ana, Andreau, Karine, Armand, Anne-Sophie, Møller, Ian M., Petit, Patrice X.
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Media 20.01.2016; Frontiers Media S.A
• Subjects: Barth Syndrome; cardiolipin; Cellular Biology; Cellular Models; Endocrinology and metabolism; Genetics; Human genetics; Human health and pathology; Life Sciences; Mitochondria; Stem Cells; Subcellular Processes; Tafazzin; stem cells; mitochondrially targeted antioxidant; mitochondria; barth syndrome; cellular models; cardiolipin; tafazzin

Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS). Individuals with this X-linked multisystem disorder present cardiomyopathy (CM) (often dilated), skeletal muscle weakness, neutropenia, growth retardation, and 3-methylglutaconic aciduria. Biopsies of the heart, li...