McKenzie Matthew, Lazarou Michael, Thorburn David R, Ryan Michael T
Department of Biochemistry, La Trobe University, Melbourne, Australia.
J Mol Biol. 2006 Aug 18;361(3):462-9. doi: 10.1016/j.jmb.2006.06.057. Epub 2006 Jul 5.
Mutations in the human TAZ gene are associated with Barth Syndrome, an often fatal X-linked disorder that presents with cardiomyopathy and neutropenia. The TAZ gene encodes Tafazzin, a putative phospholipid acyltranferase that is involved in the remodeling of cardiolipin, a phospholipid unique to the inner mitochondrial membrane. It has been shown that the disruption of the Tafazzin gene in yeast (Taz1) affects the assembly and stability of respiratory chain Complex IV and its supercomplex forms. However, the implications of these results for Barth Syndrome are restricted due to the additional presence of Complex I in humans that forms a supercomplex with Complexes III and IV. Here, we investigated the effects of Tafazzin, and hence cardiolipin deficiency in lymphoblasts from patients with Barth Syndrome, using blue-native polyacrylamide gel electrophoresis. Digitonin extraction revealed a more labile Complex I/III(2)/IV supercomplex in mitochondria from Barth Syndrome cells, with Complex IV dissociating more readily from the supercomplex. The interaction between Complexes I and III was also less stable, with decreased levels of the Complex I/III(2) supercomplex. Reduction of Complex I holoenzyme levels was observed also in the Barth Syndrome patients, with a corresponding decrease in steady-state subunit levels. We propose that the loss of mature cardiolipin species in Barth Syndrome results in unstable respiratory chain supercomplexes, thereby affecting Complex I biogenesis, respiratory activities and subsequent pathology.
人类TAZ基因的突变与巴斯综合征相关,这是一种常致命的X连锁疾病,表现为心肌病和中性粒细胞减少症。TAZ基因编码tafazzin,一种假定的磷脂酰转移酶,参与心磷脂的重塑,心磷脂是线粒体内膜特有的一种磷脂。已表明酵母中tafazzin基因(Taz1)的破坏会影响呼吸链复合物IV及其超复合物形式的组装和稳定性。然而,由于人类中还存在与复合物III和IV形成超复合物的复合物I,这些结果对巴斯综合征的影响受到限制。在此,我们使用蓝色天然聚丙烯酰胺凝胶电泳研究了tafazzin的作用,以及因此巴斯综合征患者淋巴细胞中的心磷脂缺乏情况。洋地黄皂苷提取显示,巴斯综合征细胞线粒体中的复合物I/III(2)/IV超复合物更不稳定,复合物IV更容易从超复合物中解离。复合物I和III之间的相互作用也较不稳定,复合物I/III(2)超复合物水平降低。在巴斯综合征患者中也观察到复合物I全酶水平降低,同时稳态亚基水平相应下降。我们提出,巴斯综合征中成熟心磷脂种类的缺失导致呼吸链超复合物不稳定,从而影响复合物I的生物合成、呼吸活性及后续病理过程。