Barth syndrome, a human disorder of cardiolipin metabolism
- PMID: 16973164
- DOI: 10.1016/j.febslet.2006.07.022
Barth syndrome, a human disorder of cardiolipin metabolism
Abstract
Barth syndrome is an X-linked recessive disease caused by mutations in the tafazzin gene. Patients have reduced concentration and altered composition of cardiolipin, the specific mitochondrial phospholipid, and they have variable clinical findings, often including heart failure, myopathy, neutropenia, and growth retardation. This article provides an overview of the molecular basis of Barth syndrome. It is argued that tafazzin, a phospholipid acyltransferase, is involved in acyl-specific remodeling of cardiolipin, which promotes structural uniformity and molecular symmetry among the cardiolipin molecular species. Inhibition of this pathway leads to changes in mitochondrial architecture and function.
Similar articles
-
A Drosophila model of Barth syndrome.Proc Natl Acad Sci U S A. 2006 Aug 1;103(31):11584-8. doi: 10.1073/pnas.0603242103. Epub 2006 Jul 19. Proc Natl Acad Sci U S A. 2006. PMID: 16855048 Free PMC article.
-
Cardiolipin metabolism and Barth Syndrome.Prog Lipid Res. 2006 Mar;45(2):91-101. doi: 10.1016/j.plipres.2005.12.001. Epub 2006 Jan 18. Prog Lipid Res. 2006. PMID: 16442164 Review.
-
Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome.Biochem Biophys Res Commun. 2000 Dec 20;279(2):378-82. doi: 10.1006/bbrc.2000.3952. Biochem Biophys Res Commun. 2000. PMID: 11118295
-
Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients.J Mol Biol. 2006 Aug 18;361(3):462-9. doi: 10.1016/j.jmb.2006.06.057. Epub 2006 Jul 5. J Mol Biol. 2006. PMID: 16857210
-
Cardiolipin remodeling in the heart.J Cardiovasc Pharmacol. 2009 Apr;53(4):290-301. doi: 10.1097/FJC.0b013e31819b5461. J Cardiovasc Pharmacol. 2009. PMID: 19276988 Review.
Cited by
-
Diagnosis of Barth syndrome using a novel LC-MS/MS method for leukocyte cardiolipin analysis.J Inherit Metab Dis. 2013 Sep;36(5):741-6. doi: 10.1007/s10545-012-9552-4. Epub 2012 Oct 30. J Inherit Metab Dis. 2013. PMID: 23109063
-
Barth syndrome cardiomyopathy: targeting the mitochondria with elamipretide.Heart Fail Rev. 2021 Mar;26(2):237-253. doi: 10.1007/s10741-020-10031-3. Epub 2020 Oct 1. Heart Fail Rev. 2021. PMID: 33001359 Free PMC article. Review.
-
A novel TAZ gene mutation and mosaicism in a Polish family with Barth syndrome.Ann Hum Genet. 2015 May;79(3):218-24. doi: 10.1111/ahg.12108. Epub 2015 Mar 16. Ann Hum Genet. 2015. PMID: 25776009 Free PMC article.
-
Power(2): the power of yeast genetics applied to the powerhouse of the cell.Trends Endocrinol Metab. 2015 Feb;26(2):59-68. doi: 10.1016/j.tem.2014.12.002. Epub 2015 Jan 12. Trends Endocrinol Metab. 2015. PMID: 25591985 Free PMC article. Review.
-
Effects of cardiolipin on membrane morphology: a Langmuir monolayer study.Biophys J. 2015 Apr 21;108(8):1977-86. doi: 10.1016/j.bpj.2015.03.026. Biophys J. 2015. PMID: 25902437 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
