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

Frontiers in Genetics
Ana SaricPatrice X Petit

Abstract

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, liver and skeletal muscle of patients have revealed mitochondrial malformations and dysfunctions. It is the purpose of this review to summarize recent results of studies on various animal or cell models of Barth syndrome, which have characterized biochemically the strong cellular defects associated with TAZ mutations. Tafazzin is a mitochondrial phospholipidlysophospholipid transacylase that shuttles acyl groups between phospholipids and regulates the remodeling of cardiolipin (CL), a unique inner mitochondrial membrane phospholipid dimer consisting of two phosphatidyl residues linked by a glycerol bridge. After their biosynthesis, the acyl chains of CLs may be modified in remodeling processes involving up to three different enzymes. Their characteristic acyl chain composition depends on the function of tafazzin, although the enzyme itself surprisingly lacks acyl specificity. CLs are crucial for correct mitochondrial structure and func...Continue Reading

References

Sep 6, 1976·Clinica Chimica Acta; International Journal of Clinical Chemistry·S J Wysocki, R Hähnel
Jul 25, 1990·Biochimica Et Biophysica Acta·K NicolayR Hovius
Jun 12, 1985·Biochimica Et Biophysica Acta·G Daum
Jun 8, 1971·Biochimica Et Biophysica Acta·K Y HostetlerL L Van Deenen
Dec 1, 1983·Journal of the Neurological Sciences·P G BarthM A Sobotka-Plojhar
Mar 1, 1995·Journal of Molecular and Cellular Cardiology·A M Gerdes, J M Capasso
Feb 1, 1993·American Journal of Medical Genetics·L C AdèsD O Sillence
Apr 1, 1996·Nature Genetics·S BioneD Toniolo
Nov 5, 1997·American Journal of Human Genetics·J JohnstonR Proujansky
Oct 30, 1998·American Journal of Human Genetics·K H OrstavikD Toniolo
Sep 15, 1999·The Journal of Pediatrics·P G BarthP Vreken
Apr 19, 2000·The Biochemical Journal·V Koshkin, M L Greenberg
May 9, 2000·Progress in Lipid Research·M SchlameM L Greenberg
Mar 16, 2002·Laboratory Investigation; a Journal of Technical Methods and Pathology·John J BisslerGeorge Hug
Sep 26, 2002·FEBS Letters·Thomas H Haines, Norbert A Dencher
Jan 2, 2003·Annals of Neurology·Michael BunseKarl Josef Osterziel
Feb 6, 2003·The Journal of Biological Chemistry·William A Taylor, Grant M Hatch
Aug 22, 2003·The Journal of Biological Chemistry·Frédéric M VazRonald J A Wanders
Oct 11, 2003·The Journal of Biological Chemistry·Yang XuMichael Schlame
Mar 31, 2004·Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire·Grant M Hatch
Apr 21, 2004·American Journal of Medical Genetics. Part a·Peter G BarthRonald J A Wanders
Mar 29, 2005·American Journal of Medical Genetics. Part a·Iris L Gonzalez
Apr 5, 2005·Journal of Lipid Research·Fredoen ValianpourFrédéric M Vaz
Apr 5, 2005·Laboratory Investigation; a Journal of Technical Methods and Pathology·Yang XuMichael Schlame
Oct 18, 2005·Chemistry and Physics of Lipids·Michael SchlameIvan Haller
Oct 20, 2005·Pediatric Cardiology·C T SpencerR M Bryant

❮ Previous
Next ❯

Citations

Oct 28, 2017·Journal of Clinical Medicine·Mesfer Al ShahraniMichael Orford
Jan 10, 2020·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Takaoki KasaharaTadafumi Kato
Jun 19, 2020·International Journal of Molecular Sciences·Vidyani SuryadevaraViswanathan Natarajan
Apr 19, 2017·British Journal of Haematology·David C Dale
Jul 14, 2018·International Journal of Molecular Sciences·Prasoon AgarwalGrant M Hatch
Dec 25, 2019·Biochemistry. Biokhimii︠a︡·G A ShilovskyM Y Vyssokikh
Dec 31, 2019·Oxidative Medicine and Cellular Longevity·Alejandra Guillermina Miranda-DíazFermín Paul Pacheco-Moisés
May 8, 2020·Oxidative Medicine and Cellular Longevity·Antonio Díaz-QuintanaIrene Díaz-Moreno
Jan 1, 2017·Cellular and Molecular Neurobiology·Caitlin B Pointer, Andis Klegeris
Jan 9, 2021·Molecular and Cellular Biochemistry·Hana M Zegallai, Grant M Hatch
Jul 25, 2021·International Journal of Molecular Sciences·Cameron L McKnightAnn E Frazier
Oct 10, 2021·Journal of Inherited Metabolic Disease·Jiajia Ji, Miriam L Greenberg

❮ Previous
Next ❯

Methods Mentioned

BETA
biopsy
electron microscopy
acylation
GTPase
transacylation
transfection

Software Mentioned

AutoPh

Related Concepts

Related Feeds

Autophagy & Model Organisms

Autophagy is a cellular process that allows degradation by the lysosome of cytoplasmic components such as proteins or organelles. Here is the latest research on autophagy & model organisms

Apoptosis

Apoptosis is a specific process that leads to programmed cell death through the activation of an evolutionary conserved intracellular pathway leading to pathognomic cellular changes distinct from cellular necrosis

Cardiomyopathy

Cardiomyopathy is a disease of the heart muscle, that can lead to muscular or electrical dysfunction of the heart. It is often an irreversible disease that is associated with a poor prognosis. There are different causes and classifications of cardiomyopathies. Here are the latest discoveries pertaining to this disease.