Minai Limor, Martinovic Jelena, Chretien Dominique, Dumez Françoise, Razavi Férechté, Munnich Arnold, Rötig Agnès
INSERM U781 and Service de Génétique, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75015 Paris, France.
Mol Genet Metab. 2008 May;94(1):120-6. doi: 10.1016/j.ymgme.2007.12.007. Epub 2008 Jan 30.
Oxidative phosphorylation (OXPHOS) deficiency may have early antenatal manifestations, probably related to the time course and/or tissue specificity of the disease gene expression during the embryo-fetal period. This feature hampers a fully reliable prenatal enzymological diagnosis of OXPHOS deficiency. We have studied OXPHOS in various human fetal tissues from 9 to 17 weeks of gestation. We found that the fetal respiratory chain complexes are fully assembled and functional at early stages of development in heart, liver, muscle, brain and kidney. We also observed a marked increase of respiratory chain activities and mitochondria content in postnatal compared to prenatal tissues. However, we were not able to detect obvious modification in the size, composition or activity of the various OXPHOS complexes during the second trimester of pregnancy that could account for the variations we observed in a pathological context. Therefore, we suggest that the time-dependent expression of respiratory chain deficiency either during fetal life or after birth could be related to the differential expression or regulation of the mutant proteins.
氧化磷酸化（OXPHOS）缺陷可能有早期产前表现，这可能与胚胎 - 胎儿期疾病基因表达的时间进程和/或组织特异性有关。这一特征妨碍了对OXPHOS缺陷进行完全可靠的产前酶学诊断。我们研究了妊娠9至17周的各种人类胎儿组织中的OXPHOS。我们发现胎儿呼吸链复合物在心脏、肝脏、肌肉、脑和肾脏发育的早期阶段就已完全组装并具有功能。我们还观察到，与产前组织相比，产后组织中呼吸链活性和线粒体含量显著增加。然而，在妊娠中期，我们未能检测到各种OXPHOS复合物在大小、组成或活性方面有明显变化，而这些变化本可解释我们在病理情况下观察到的差异。因此，我们认为呼吸链缺陷在胎儿期或出生后的时间依赖性表达可能与突变蛋白的差异表达或调控有关。
