Departamento de Biomedicina Cardiovascular, Instituto Nacional de Cardiología, Juan Badiano No 1 Tlalpan, Mexico, CP 14080, DF, Mexico.
J Bioenerg Biomembr. 2011 Dec;43(6):683-90. doi: 10.1007/s10863-011-9387-y. Epub 2011 Oct 13.
The role of phospholipids in normal assembly and organization of the membrane proteins has been well documented. Cardiolipin, a unique tetra-acyl phospholipid localized in the inner mitochondrial membrane, is implicated in the stability of many inner-membrane protein complexes. Loss of cardiolipin content, alterations in its acyl chain composition and/or cardiolipin peroxidation have been associated with dysfunction in multiple tissues in a variety of pathological conditions. The aim of this study was to analyze the phospholipid composition of the mitochondrial membrane in the four most frequent mutations in the ATP6 gene: L156R, L217R, L156P and L217P but, more importantly, to investigate the possible changes in the cardiolipin profile. Mitochondrial membranes from fibroblasts with mutations at codon 217 of the ATP6 gene, showed a different cardiolipin content compared to controls. Conversely, results similar to controls were obtained for mutations at codon 156. These findings may be attributed to differences in the biosynthesis and remodeling of cardiolipin at the level of the inner mitochondrial transmembrane related to some mutations of the ATP6 gene.
磷脂在膜蛋白的正常组装和组织中起着重要作用，这一点已得到充分证实。心磷脂是一种位于线粒体内膜的独特四酰基磷脂，它与许多内膜蛋白复合物的稳定性有关。在心磷脂含量降低、其酰基链组成改变和/或心磷脂过氧化的情况下，多种病理条件下的多种组织会出现功能障碍。本研究旨在分析 ATP6 基因中最常见的四种突变（L156R、L217R、L156P 和 L217P）的线粒体膜的磷脂组成，但更重要的是，研究心磷脂谱的可能变化。与对照组相比，ATP6 基因密码子 217 突变的成纤维细胞的线粒体膜心磷脂含量不同。相反，密码子 156 突变的结果与对照组相似。这些发现可能归因于与 ATP6 基因突变相关的线粒体内膜水平上心磷脂生物合成和重塑的差异。
