Peroxisomal catalase and plasmalogen biosynthesis protect from oxidative stress in Barth syndrome cardiomyopathy

Acehan D, Vaz F, Houtkooper RH, James J, Moore V, Tokunaga C, Kulik W, Wansapura J, Toth MJ, Strauss A, Khuchua Z (2011) Cardiac and skeletal muscle defects in a mouse model of human barth syndrome. J Biol Chem 286:899–908. https://doi.org/10.1074/jbc.M110.171439

Article  CAS  PubMed  Google Scholar 

Ait-Aissa K, Blaszak SC, Beutner G, Tsaih SW, Morgan G, Santos JH, Flister MJ, Joyce DL, Camara AKS, Gutterman DD, Donato AJ, Porter GA Jr, Beyer AM (2019) Mitochondrial oxidative phosphorylation defect in the heart of subjects with coronary artery disease. Sci Rep 9:7623. https://doi.org/10.1038/s41598-019-43761-y

Article  CAS  PubMed  PubMed Central  Google Scholar 

Aksentijevic D, Sedej S, Fauconnier J, Paillard M, Abdellatif M, Streckfuss-Bomeke K, Ventura-Clapier R, van der Velden J, de Boer RA, Bertero E, Dudek J, Sequeira V, Maack C (2025) Mechano-energetic uncoupling in heart failure. Nat Rev Cardiol 22:773–797. https://doi.org/10.1038/s41569-025-01167-6

Article  CAS  PubMed  Google Scholar 

Barth P, Scholte H, Berden J, Van der Klei-Van Moorsel J, Luyt-Houwen I, Van t Veer-Korthof E, Van der Harten J, Sobotka-Plojhar M (1983) An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol Sci 62:327–355. https://doi.org/10.1016/0022-510x(83)90209-5

Article  CAS  PubMed  Google Scholar 

Bartoszewska M, Williams C, Kikhney A, Opalinski L, van Roermund CW, de Boer R, Veenhuis M, van der Klei IJ (2012) Peroxisomal proteostasis involves a Lon family protein that functions as protease and chaperone. J Biol Chem 287:27380–27395. https://doi.org/10.1074/jbc.M112.381566

Article  CAS  PubMed  PubMed Central  Google Scholar 

Baumgart E, Vanhorebeek I, Grabenbauer M, Borgers M, Declercq PE, Fahimi HD, Baes M (2001) Mitochondrial alterations caused by defective peroxisomal biogenesis in a mouse model for Zellweger syndrome (PEX5 knockout mouse). Am J Pathol 159:1477–1494. https://doi.org/10.1016/S0002-9440(10)62534-5

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bertero E, Nickel A, Kohlhaas M, Hohl M, Sequeira V, Brune C, Schwemmlein J, Abesser M, Schuh K, Kutschka I, Carlein C, Munker K, Atighetchi S, Muller A, Kazakov A, Kappl R, von der Malsburg K, van der Laan M, Schiuma AF, Bohm M, Laufs U, Hoth M, Rehling P, Kuhn M, Dudek J, von der Malsburg A, Prates Roma L, Maack C (2021) Loss of mitochondrial Ca(2+) uniporter limits inotropic reserve and provides trigger and substrate for arrhythmias in barth syndrome cardiomyopathy. Circulation. https://doi.org/10.1161/CIRCULATIONAHA.121.053755

Article  PubMed  Google Scholar 

Bione S, D’Adamo P, Maestrini E, Gedeon A, Bolhuis P, Toniolo D (1996) A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat Genet 12:385–389. https://doi.org/10.1038/ng0496-385

Article  CAS  PubMed  Google Scholar 

Braverman NE, Moser AB (2012) Functions of plasmalogen lipids in health and disease. Biochim Biophys Acta 1822:1442–1452. https://doi.org/10.1016/j.bbadis.2012.05.008

Article  CAS  PubMed  Google Scholar 

Cade WT, Bohnert KL, Peterson LR, Patterson BW, Bittel AJ, Okunade AL, de Las FL, Steger-May K, Bashir A, Schweitzer GG, Chacko SK, Wanders RJ, Pacak CA, Byrne BJ, Reeds DN (2019) Blunted fat oxidation upon submaximal exercise is partially compensated by enhanced glucose metabolism in children, adolescents, and young adults with Barth syndrome. J Inherit Metab Dis 42:480–493

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cave A, Grieve D, Johar S, Zhang M, Shah AM (2005) NADPH oxidase-derived reactive oxygen species in cardiac pathophysiology. Philos Trans R Soc Lond B Biol Sci 360:2327–2334. https://doi.org/10.1098/rstb.2005.1772

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chatfield KC, Sparagna GC, Specht KS, Whitcomb LA, Omar AK, Miyamoto SD, Wolfe LM, Chicco AJ (2022) Long-chain fatty acid oxidation and respiratory complex I deficiencies distinguish Barth Syndrome from idiopathic pediatric cardiomyopathy. J Inherit Metab Dis 45:111–124. https://doi.org/10.1002/jimd.12459

Article  CAS  PubMed  Google Scholar 

Chen T, Jin X, Crawford BH, Cheng H, Saafir TB, Wagner MB, Yuan Z, Ding G (2012) Cardioprotection from oxidative stress in the newborn heart by activation of PPARγ is mediated by catalase. Free Radic Biol Med 53:208–215. https://doi.org/10.1016/j.freeradbiomed.2012.05.014

Article  CAS  PubMed  Google Scholar 

Chowdhury A, Boshnakovska A, Aich A, Methi A, Vergel Leon AM, Silbern I, Luchtenborg C, Cyganek L, Prochazka J, Sedlacek R, Lindovsky J, Wachs D, Nichtova Z, Zudova D, Koubkova G, Fischer A, Urlaub H, Brugger B, Katschinski DM, Dudek J, Rehling P (2023) Metabolic switch from fatty acid oxidation to glycolysis in knock-in mouse model of Barth syndrome. EMBO Mol Med. https://doi.org/10.15252/emmm.202317399

Article  PubMed  PubMed Central  Google Scholar 

Chowdhury S, Jackson L, Byrne BJ, Bryant RM, Cade WT, Churchill TL, Buchanan J, Taylor C (2022) Longitudinal observational study of cardiac outcome risk factor prediction in children, adolescents, and adults with barth syndrome. Pediatr Cardiol 43:1251–1263. https://doi.org/10.1007/s00246-022-02846-8

Article  PubMed  PubMed Central  Google Scholar 

Colasante C, Chen J, Ahlemeyer B, Bonilla-Martinez R, Karnati S, Baumgart-Vogt E (2017) New insights into the distribution, protein abundance and subcellular localisation of the endogenous peroxisomal biogenesis proteins PEX3 and PEX19 in different organs and cell types of the adult mouse. PLoS ONE 12:e0183150. https://doi.org/10.1371/journal.pone.0183150

Article  CAS  PubMed  PubMed Central  Google Scholar 

Costa-Mattioli M, Walter P (2020) The integrated stress response: From mechanism to disease. Science. https://doi.org/10.1126/science.aat5314

Article  PubMed  PubMed Central  Google Scholar 

Dai DF, Chen T, Wanagat J, Laflamme M, Marcinek DJ, Emond MJ, Ngo CP, Prolla TA, Rabinovitch PS (2010) Age-dependent cardiomyopathy in mitochondrial mutator mice is attenuated by overexpression of catalase targeted to mitochondria. Aging Cell 9:536–544. https://doi.org/10.1111/j.1474-9726.2010.00581.x

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dai DF, Hsieh EJ, Liu Y, Chen T, Beyer RP, Chin MT, MacCoss MJ, Rabinovitch PS (2012) Mitochondrial proteome remodelling in pressure overload-induced heart failure: the role of mitochondrial oxidative stress. Cardiovasc Res 93:79–88. https://doi.org/10.1093/cvr/cvr274

Article  CAS  PubMed  Google Scholar 

Dai DF, Johnson SC, Villarin JJ, Chin MT, Nieves-Cintron M, Chen T, Marcinek DJ, Dorn GW 2nd, Kang YJ, Prolla TA, Santana LF, Rabinovitch PS (2011) Mitochondrial oxidative stress mediates angiotensin II–induced cardiac hypertrophy and gαq overexpression–induced heart failure. Circ Res 108:837–846. https://doi.org/10.1161/CIRCRESAHA.110.232306

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dai DF, Santana LF, Vermulst M, Tomazela DM, Emond MJ, MacCoss MJ, Gollahon K, Martin GM, Loeb LA, Ladiges WC, Rabinovitch PS (2009) Overexpression of catalase targeted to mitochondria attenuates murine cardiac aging. Circulation 119:2789–2797. https://doi.org/10.1161/CIRCULATIONAHA.108.822403

Article  CAS  PubMed  PubMed Central  Google Scholar 

Daiber A, Di Lisa F, Oelze M, Kroller-Schon S, Steven S, Schulz E, Munzel T (2017) Crosstalk of mitochondria with NADPH oxidase via reactive oxygen and nitrogen species signalling and its role for vascular function. Br J Pharmacol 174:1670–1689. https://doi.org/10.1111/bph.13403

Article  CAS  PubMed  Google Scholar 

De Duve C, Baudhuin P (1966) Peroxisomes (microbodies and related particles). Physiol Rev 46:323–357. https://doi.org/10.1152/physrev.1966.46.2.323

Article  PubMed  Google Scholar 

Dey S, Sidor A, O’Rourke B (2016) Compartment-specific control of reactive oxygen species scavenging by antioxidant pathway enzymes. J Biol Chem 291:11185–11197. https://doi.org/10.1074/jbc.M116.726968

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dieterich S, Bieligk U, Beulich K, Hasenfuss G, Prestle J (2000) Gene expression of antioxidative enzymes in the human heart: increased expression of catalase in the end-stage failing heart. Circulation 101:33–39. https://doi.org/10.1161/01.cir.101.1.33

Article 

Comments (0)

No login
gif