Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome
Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome
复制标题
DOI：
10.1002/ana.10176
复制
发表时间：
2002-05-01
影响因子：
11.2
通讯作者：
Blanck, TJJ
中科院分区：
文献类型：
--
作者：
Schlame, M;Towbin, JA;Blanck, TJJ
Barth综合征是一种X连锁的心脏和骨骼线粒体肌病。巴斯综合征可能是由于脂质改变，因为突变基因的产物与磷脂酰基转移酶同源。在这里，我们的文件，一个单一的线粒体磷脂物种，四氢萘油酰心磷脂，缺乏骨骼肌（n = 2），右心室（n = 2），左心室（n = 2），和血小板（n = 6）的8名儿童Barth综合征。四氢萘油酰心磷脂在正常骨骼肌和正常心脏中特异性富集。这些发现支持了巴斯综合征是由线粒体脂质改变引起的观点。
Barth syndrome is an X-linked cardiac and skeletal mitochondrial myopathy. Barth syndrome may be due to lipid alterations because the product of the mutated gene is homologous to phospholipid acyltransferases. Here we document that a single mitochondrial phospholipid species, tetralinoleoyl-cardiolipin, was lacking in the skeletal muscle (n = 2), right ventricle (n = 2), left ventricle (n = 2), and platelets (n = 6) of 8 children with Barth syndrome. Tetralinoleoyl-cardiolipin is specifically enriched in normal skeletal muscle and the normal heart. These findings support the notion that Barth syndrome is caused by alterations of mitochondrial lipids.