Rezaee A R, Azadi A, Houshmand M, Mahmoodi F, Purpak Z, Safaei S, Karimi P, Ghabaee M, Sahraian M A
Animal Science Department, College of Agriculture, Ferdowsi University of Mashhad, Mashhad, Iran.
Genet Mol Res. 2013 Sep 12;12(3):3551-4. doi: 10.4238/2013.September.12.1.
Multiple sclerosis (MS) is an immunological inflammatory disease of the central nervous system. The pathogenesis of MS is incompletely understood, but various studies have suggested that mitochondrial dysfunction is associated with the disease. Mitochondria are among the main cellular sources of reactive oxygen and nitrogen species, and they play a pivotal role in many neuro-pathological conditions. The mitochondrial nuclear subunit of complex I gene in mitochondria may play a role in MS, and understanding this role may provide rationale for novel approaches to treatment of the disease and the development of novel therapies. We designed a molecular study to demonstrate biochemical defects in complex I activity and found some novel nucleotide substitutions in mitochondrial DNA that might be involved in the pathogenesis of MS. The mitochondrial complex subunit I sequence was amplified and sequenced in MS patients. Although no reported pathogenic mutations were found in these patients, other studies have clearly indicated that the mitochondrial nuclear complex subunit I gene plays a significant role in MS pathogenesis.
多发性硬化症（MS）是一种中枢神经系统的免疫炎性疾病。MS的发病机制尚未完全明确，但多项研究表明线粒体功能障碍与该疾病有关。线粒体是活性氧和氮物种的主要细胞来源之一，并且在许多神经病理状况中起关键作用。线粒体中复合物I基因的线粒体核亚基可能在MS中发挥作用，了解这一作用可能为该疾病的新治疗方法和新疗法的开发提供理论依据。我们设计了一项分子研究以证明复合物I活性中的生化缺陷，并在可能参与MS发病机制的线粒体DNA中发现了一些新的核苷酸替换。对MS患者的线粒体复合物亚基I序列进行了扩增和测序。虽然在这些患者中未发现已报道的致病突变，但其他研究已明确表明线粒体核复合物亚基I基因在MS发病机制中起重要作用。
