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
-
Identification of cardiolipin binding sites on cytochrome c oxidase at the entrance of proton channels.Sci Rep. 2013;3:1263. doi: 10.1038/srep01263. Epub 2013 Feb 12. Sci Rep. 2013. PMID: 23405277 Free PMC article.
-
Known unknowns of cardiolipin signaling: The best is yet to come.Biochim Biophys Acta Mol Cell Biol Lipids. 2017 Jan;1862(1):8-24. doi: 10.1016/j.bbalip.2016.08.001. Epub 2016 Aug 4. Biochim Biophys Acta Mol Cell Biol Lipids. 2017. PMID: 27498292 Free PMC article. Review.
-
Dynamic simulation of cardiolipin remodeling: greasing the wheels for an interpretative approach to lipidomics.J Lipid Res. 2010 Aug;51(8):2153-70. doi: 10.1194/jlr.M004796. Epub 2010 Apr 21. J Lipid Res. 2010. PMID: 20410019 Free PMC article.
-
Double bonds of unsaturated fatty acids differentially regulate mitochondrial cardiolipin remodeling.Lipids Health Dis. 2019 Feb 14;18(1):53. doi: 10.1186/s12944-019-0990-y. Lipids Health Dis. 2019. PMID: 30764880 Free PMC article.
-
Unremodeled and remodeled cardiolipin are functionally indistinguishable in yeast.J Biol Chem. 2014 Jan 17;289(3):1768-78. doi: 10.1074/jbc.M113.525733. Epub 2013 Nov 27. J Biol Chem. 2014. PMID: 24285538 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
