The mutation of the tafazzin gene is associated with a number of clinical disorders including Barth syndrome (BTHS) (type II 3-Methylglutaconic aciduria), dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Tafazzin is responsible for remodeling of a phospholipid cardiolipin (CL),[5] the signature lipid of the mitochondrial inner membrane. As a result, BTHS patients exhibit defects in CL metabolism, including aberrant CL fatty acyl composition, accumulation of monolysocardiolipin (MLCL) and reduced total CL levels.[6][7]
History
The protein was identified by Italian scientists Silvia Bione et al. in 1996.[8] Owing to the complex procedure required for the identification of tafazzin, the protein was named after "Tafazzi", a masochistic comic character in an Italian television show.
↑Valianpour F, Mitsakos V, Schlemmer D, Towbin JA, Taylor JM, Ekert PG, Thorburn DR, Munnich A, Wanders RJ, Barth PG, Vaz FM (June 2005). "Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis". J. Lipid Res. 46 (6): 1182–95. doi:10.1194/jlr.M500056-JLR200. PMID15805542.
↑Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D (April 1996). "A novel X-linked gene, G4.5. is responsible for Barth syndrome". Nat. Genet. 12 (4): 385–9. doi:10.1038/ng0496-385. PMID8630491.
Takeda A, Sudo A, Yamada M, Yamazawa H, et al. (2011 Sep 20.). "Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium". Eur J Pediatr. 170 (11): 1481–4. doi:10.1007/s00431-011-1576-5. PMID21932011. Check date values in: |year= (help)
Bachou T, Giannakopoulos A, Trapali C, et al. (2009). "A novel mutation in the G4.5 (TAZ) gene in a Greek patient with Barth syndrome". Blood Cells Mol. Dis. 42 (3): 262–4. doi:10.1016/j.bcmd.2008.11.004. PMID19261493.
Gonzalez IL (2005). "Barth syndrome: TAZ gene mutations, mRNAs, and evolution". Am. J. Med. Genet. A. 134 (4): 409–14. doi:10.1002/ajmg.a.30661. PMID15793838.
Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. PMID16169070.
Barth PG, Valianpour F, Bowen VM, et al. (2004). "X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update". Am. J. Med. Genet. A. 126A (4): 349–54. doi:10.1002/ajmg.a.20660. PMID15098233.
van Werkhoven MA, Thorburn DR, Gedeon AK, Pitt JJ (2006). "Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome". J. Lipid Res. 47 (10): 2346–51. doi:10.1194/jlr.D600024-JLR200. PMID16873891.
McKenzie M, Lazarou M, Thorburn DR, Ryan MT (2006). "Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients". J. Mol. Biol. 361 (3): 462–9. doi:10.1016/j.jmb.2006.06.057. PMID16857210.
Lu B, Kelher MR, Lee DP, et al. (2004). "Complex expression pattern of the Barth syndrome gene product tafazzin in human cell lines and murine tissues". Biochem. Cell Biol. 82 (5): 569–76. doi:10.1139/o04-055. PMID15499385.
Ma L, Vaz FM, Gu Z, et al. (2004). "The human TAZ gene complements mitochondrial dysfunction in the yeast taz1Delta mutant. Implications for Barth syndrome". J. Biol. Chem. 279 (43): 44394–9. doi:10.1074/jbc.M405479200. PMID15304507.
Houtkooper RH, Turkenburg M, Poll-The BT, et al. (2009). "The enigmatic role of tafazzin in cardiolipin metabolism". Biochim. Biophys. Acta. 1788 (10): 2003–14. doi:10.1016/j.bbamem.2009.07.009. PMID19619503.
Vaz FM, Houtkooper RH, Valianpour F, et al. (2003). "Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism". J. Biol. Chem. 278 (44): 43089–94. doi:10.1074/jbc.M305956200. PMID12930833.