Collombet J M, Faure-Vigny H, Mandon G, Dumoulin R, Boissier S, Bernard A, Mousson B, Stepien G
Centre de Génétique Moléculaire et Cellulaire, UMR-CNRS, Villeurbanne, France.
Mol Cell Biochem. 1997 Mar;168(1-2):73-85. doi: 10.1023/a:1006830807107.
The expression of several mitochondrial and nuclear genes involved in ATP production was examined in cells cultured from muscle biopsies of patients harboring mitochondrial pathologies. The transcript patterns in muscle cells from the patients affected by carnitine palmitoyl transferase II or 2-ketoglutarate dehydrogenase deficiencies were almost similar to control patterns. In the opposite, patterns were strikingly abnormal in all the other cell cultures from patients with defects in enzymatic complexes involved in oxidative phosphorylation: mitochondrial complex II and III deficiencies, two MELAS syndromes (myopathy, encephalopathy, lactic acidosis and stroke like episodes), a case of Kearns-Sayre syndrome and a case of chronic progressive external ophthalmoplegia. In cultured muscle cells from patients with mtDNA mutations, the percentage of mutated mtDNA was low as compared with those determined in the corresponding skeletal muscle biopsy. Moreover, the complex II defect resulting of a nuclear mutation was not expressed in the cell cultures. Thus, an undetermined transcriptional event, transmitted from muscle biopsies to cultured muscle cells, should be involved to account for such abnormal transcript patterns.
在从患有线粒体疾病患者的肌肉活检样本中培养的细胞中，检测了几种参与ATP生成的线粒体和核基因的表达情况。患有肉碱棕榈酰转移酶II或2-酮戊二酸脱氢酶缺乏症患者的肌肉细胞中的转录模式与对照模式几乎相似。相反，在患有参与氧化磷酸化的酶复合物缺陷的患者的所有其他细胞培养物中，模式明显异常：线粒体复合物II和III缺乏症、两种线粒体脑肌病伴乳酸血症和卒中样发作综合征（MELAS）、一例凯-赛综合征和一例慢性进行性外眼肌麻痹。在患有线粒体DNA（mtDNA）突变患者的培养肌肉细胞中，与相应骨骼肌活检中测定的突变mtDNA百分比相比，突变mtDNA的百分比很低。此外，由核突变导致的复合物II缺陷在细胞培养物中未表达。因此，从肌肉活检样本传递到培养肌肉细胞的一种未确定的转录事件，应该参与解释这种异常的转录模式。
