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Barth syndrome: A life-threatening disorder caused by abnormal cardiolipin remodeling

Barth syndrome (BTHS) is a rare X-linked genetic disorder characterized by cardiomyopathy, skeletal myopathy, neutropenia, and organic aciduria. The presence and severity of clinical manifestations are highly variable in BTHS, even among patients with identical gene mutations. Currently, less than 2...

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Autores principales: Raja, Vaishnavi, Reynolds, Christian A., Greenberg, Miriam L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6482962/
https://www.ncbi.nlm.nih.gov/pubmed/31032491
http://dx.doi.org/10.29245/2572-9411/2017/2.1087
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author Raja, Vaishnavi
Reynolds, Christian A.
Greenberg, Miriam L.
author_facet Raja, Vaishnavi
Reynolds, Christian A.
Greenberg, Miriam L.
author_sort Raja, Vaishnavi
collection PubMed
description Barth syndrome (BTHS) is a rare X-linked genetic disorder characterized by cardiomyopathy, skeletal myopathy, neutropenia, and organic aciduria. The presence and severity of clinical manifestations are highly variable in BTHS, even among patients with identical gene mutations. Currently, less than 200 patients are diagnosed worldwide, but it is estimated that the disorder may be substantially under-diagnosed due to the variable spectrum of clinical manifestations. BTHS is caused by mutations in the gene tafazzin (TAZ), resulting in defective remodeling of cardiolipin (CL), the signature phospholipid of the mitochondrial membranes. Many of the clinical sequela associated with BTHS can be directly attributed to mitochondria defects. In 2008, a definitive biochemical test was described based on detection of the abnormal CL profile characteristic of BTHS. This mini-review provides an overview of the etiology of BTHS, as well as a description of common clinical phenotypes associated with the disorder.
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spelling pubmed-64829622019-04-25 Barth syndrome: A life-threatening disorder caused by abnormal cardiolipin remodeling Raja, Vaishnavi Reynolds, Christian A. Greenberg, Miriam L. J Rare Dis Res Treat Article Barth syndrome (BTHS) is a rare X-linked genetic disorder characterized by cardiomyopathy, skeletal myopathy, neutropenia, and organic aciduria. The presence and severity of clinical manifestations are highly variable in BTHS, even among patients with identical gene mutations. Currently, less than 200 patients are diagnosed worldwide, but it is estimated that the disorder may be substantially under-diagnosed due to the variable spectrum of clinical manifestations. BTHS is caused by mutations in the gene tafazzin (TAZ), resulting in defective remodeling of cardiolipin (CL), the signature phospholipid of the mitochondrial membranes. Many of the clinical sequela associated with BTHS can be directly attributed to mitochondria defects. In 2008, a definitive biochemical test was described based on detection of the abnormal CL profile characteristic of BTHS. This mini-review provides an overview of the etiology of BTHS, as well as a description of common clinical phenotypes associated with the disorder. 2017-03-21 2017 /pmc/articles/PMC6482962/ /pubmed/31032491 http://dx.doi.org/10.29245/2572-9411/2017/2.1087 Text en This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Article
Raja, Vaishnavi
Reynolds, Christian A.
Greenberg, Miriam L.
Barth syndrome: A life-threatening disorder caused by abnormal cardiolipin remodeling
title Barth syndrome: A life-threatening disorder caused by abnormal cardiolipin remodeling
title_full Barth syndrome: A life-threatening disorder caused by abnormal cardiolipin remodeling
title_fullStr Barth syndrome: A life-threatening disorder caused by abnormal cardiolipin remodeling
title_full_unstemmed Barth syndrome: A life-threatening disorder caused by abnormal cardiolipin remodeling
title_short Barth syndrome: A life-threatening disorder caused by abnormal cardiolipin remodeling
title_sort barth syndrome: a life-threatening disorder caused by abnormal cardiolipin remodeling
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6482962/
https://www.ncbi.nlm.nih.gov/pubmed/31032491
http://dx.doi.org/10.29245/2572-9411/2017/2.1087
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AT greenbergmiriaml barthsyndromealifethreateningdisordercausedbyabnormalcardiolipinremodeling