Habbane Mouna, Montoya Julio, Rhouda Taha, Sbaoui Yousra, Radallah Driss, Emperador Sonia
Laboratoire Biologie et Santé, Faculté des sciences Ben M'Sick, Hassan II University of Casablanca, Sidi Othman, Casablanca 20670, Morocco.
Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, C/Miguel Servet, 177, 50013 Zaragoza, Spain.
Biomedicines. 2021 Oct 1;9(10):1364. doi: 10.3390/biomedicines9101364.
Mitochondria are the cell's power site, transforming energy into a form that the cell can employ for necessary metabolic reactions. These organelles present their own DNA. Although it codes for a small number of genes, mutations in mtDNA are common. Molecular genetics diagnosis allows the analysis of DNA in several areas such as infectiology, oncology, human genetics and personalized medicine. Knowing that the mitochondrial DNA is subject to several mutations which have a direct impact on the metabolism of the mitochondrion leading to many diseases, it is therefore necessary to detect these mutations in the patients involved. To date numerous mitochondrial mutations have been described in humans, permitting confirmation of clinical diagnosis, in addition to a better management of the patients. Therefore, different techniques are employed to study the presence or absence of mitochondrial mutations. However, new mutations are discovered, and to determine if they are the cause of disease, different functional mitochondrial studies are undertaken using transmitochondrial cybrid cells that are constructed by fusion of platelets of the patient that presents the mutation, with rho osteosarcoma cell line. Moreover, the contribution of next generation sequencing allows sequencing of the entire human genome within a single day and should be considered in the diagnosis of mitochondrial mutations.
线粒体是细胞的能量工厂，将能量转化为细胞可用于必要代谢反应的形式。这些细胞器有自己的DNA。虽然它只编码少数基因，但线粒体DNA突变很常见。分子遗传学诊断可对传染病学、肿瘤学、人类遗传学和个性化医疗等多个领域的DNA进行分析。鉴于线粒体DNA会发生多种突变，这些突变直接影响线粒体的代谢，进而引发多种疾病，因此有必要在相关患者中检测这些突变。迄今为止，人类中已发现众多线粒体突变，这不仅有助于临床诊断的确认，还能更好地管理患者。因此，人们采用了不同技术来研究线粒体突变的有无。然而，新的突变不断被发现，为确定它们是否为疾病的病因，人们利用由呈现突变的患者血小板与ρ骨肉瘤细胞系融合构建的线粒体杂交细胞，开展了不同的线粒体功能研究。此外，新一代测序技术能在一天内完成整个人类基因组的测序，在诊断线粒体突变时应予以考虑。
