Ann Neurol. 2002 May;51(5):634-7.

Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome.

Schlame M, Towbin JA, Heerdt PM, Jehle R, DiMauro S, Blanck TJ.

Source

Department of Anesthesiology, Hospital for Special Surgery, New York, NY, USA. schlame@hotmail.com

Abstract

Barth syndrome is an X-linked cardiac and skeletal mitochondrial myopathy. Barth syndrome may be due to lipid alterations because the product of the mutated gene is homologous to phospholipid acyltransferases. Here we document that a single mitochondrial phospholipid species, tetralinoleoyl-cardiolipin, was lacking in the skeletal muscle (n = 2), right ventricle (n = 2), left ventricle (n = 2), and platelets (n = 6) of 8 children with Barth syndrome. Tetralinoleoyl-cardiolipin is specifically enriched in normal skeletal muscle and the normal heart. These findings support the notion that Barth syndrome is caused by alterations of mitochondrial lipids.

PMID:: 12112112; [PubMed - indexed for MEDLINE]

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Molecular Biology Databases

LINOLEIC ACID - HSDB

Supplemental Content

Save items

Related citations in PubMed

Microanalysis of cardiolipin in small biopsies including skeletal muscle from patients with mitochondrial disease. [J Lipid Res. 1999]
Microanalysis of cardiolipin in small biopsies including skeletal muscle from patients with mitochondrial disease.
Schlame M, Shanske S, Doty S, König T, Sculco T, DiMauro S, Blanck TJ. J Lipid Res. 1999 Sep; 40(9):1585-92.
Phospholipid abnormalities in children with Barth syndrome. [J Am Coll Cardiol. 2003]
Phospholipid abnormalities in children with Barth syndrome.
Schlame M, Kelley RI, Feigenbaum A, Towbin JA, Heerdt PM, Schieble T, Wanders RJ, DiMauro S, Blanck TJ. J Am Coll Cardiol. 2003 Dec 3; 42(11):1994-9.
Loss of cardiac tetralinoleoyl cardiolipin in human and experimental heart failure. [J Lipid Res. 2007]
Loss of cardiac tetralinoleoyl cardiolipin in human and experimental heart failure.
Sparagna GC, Chicco AJ, Murphy RC, Bristow MR, Johnson CA, Rees ML, Maxey ML, McCune SA, Moore RL. J Lipid Res. 2007 Jul; 48(7):1559-70. Epub 2007 Apr 10.
Review Barth syndrome, a human disorder of cardiolipin metabolism. [FEBS Lett. 2006]
Review Barth syndrome, a human disorder of cardiolipin metabolism.
Schlame M, Ren M. FEBS Lett. 2006 Oct 9; 580(23):5450-5. Epub 2006 Jul 17.
Review Cardiolipin metabolism and Barth Syndrome. [Prog Lipid Res. 2006]
Review Cardiolipin metabolism and Barth Syndrome.
Hauff KD, Hatch GM. Prog Lipid Res. 2006 Mar; 45(2):91-101. Epub 2006 Jan 18.

See reviews... See all...

Cited by 24 PubMed Central articles

Improved mitochondrial function with diet-induced increase in either docosahexaenoic acid or arachidonic acid in membrane phospholipids. [PLoS One. 2012]
Improved mitochondrial function with diet-induced increase in either docosahexaenoic acid or arachidonic acid in membrane phospholipids.
Khairallah RJ, Kim J, O'Shea KM, O'Connell KA, Brown BH, Galvao T, Daneault C, Des Rosiers C, Polster BM, Hoppel CL, et al. PLoS One. 2012; 7(3):e34402. Epub 2012 Mar 30.
Review The pediatric cardiomyopathy registry and heart failure: key results from the first 15 years. [Heart Fail Clin. 2010]
Review The pediatric cardiomyopathy registry and heart failure: key results from the first 15 years.
Wilkinson JD, Landy DC, Colan SD, Towbin JA, Sleeper LA, Orav EJ, Cox GF, Canter CE, Hsu DT, Webber SA, et al. Heart Fail Clin. 2010 Oct; 6(4):401-13, vii.
Review Macromolecules that prefer their membranes curvy. [Mol Microbiol. 2010]
Review Macromolecules that prefer their membranes curvy.
Huang KC, Ramamurthi KS. Mol Microbiol. 2010 May; 76(4):822-32. Epub 2010 Apr 25.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Compound (MeSH Keyword)
PubChem chemical compound records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome.
Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome.
Ann Neurol. 2002 May ;51(5):634-7.

PubMed
Sporadic Pick's disease: a tauopathy characterized by a spectrum of pathological...
Sporadic Pick's disease: a tauopathy characterized by a spectrum of pathological tau isoforms in gray and white matter.
Ann Neurol. 2002 Jun ;51(6):730-9.

PubMed
Molecular characterization of protein kinase C-alpha binding to lamin A.
Molecular characterization of protein kinase C-alpha binding to lamin A.
J Cell Biochem. 2002 ;86(2):320-30.

PubMed
Test-retest reliability estimation of functional MRI data.
Test-retest reliability estimation of functional MRI data.
Magn Reson Med. 2002 Jul ;48(1):62-70.

PubMed
The predictive value of microbiologic diagnostic tests if asymptomatic carriers ...
The predictive value of microbiologic diagnostic tests if asymptomatic carriers are present.
Stat Med. 2002 Jun 30 ;21(12):1773-85.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome.

Source

Abstract

Publication Types, MeSH Terms, Substances, Grant Support

Publication Types

MeSH Terms

Substances

Grant Support

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Molecular Biology Databases

Supplemental Content

Save items

Related citations in PubMed

Cited by 24 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information