| Autor: |
Habbane M; 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., Montoya J; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, C/Miguel Servet, 177, 50013 Zaragoza, Spain.; Instituto de Investigación Sanitaria (IIS) de Aragón, Av. San Juan Bosco, 13, 50009 Zaragoza, Spain.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Av. Monforte de Lemos, 3-5, 28029 Madrid, Spain., Rhouda T; Laboratoire Biologie et Santé, Faculté des sciences Ben M'Sick, Hassan II University of Casablanca, Sidi Othman, Casablanca 20670, Morocco., Sbaoui Y; Département de Biologie, Faculté des Sciences Ain Chock, Hassan II University of Casablanca, Casablanca 20000, Morocco., Radallah D; Laboratoire Biologie et Santé, Faculté des sciences Ben M'Sick, Hassan II University of Casablanca, Sidi Othman, Casablanca 20670, Morocco., Emperador S; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, C/Miguel Servet, 177, 50013 Zaragoza, Spain.; Instituto de Investigación Sanitaria (IIS) de Aragón, Av. San Juan Bosco, 13, 50009 Zaragoza, Spain.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Av. Monforte de Lemos, 3-5, 28029 Madrid, Spain. |
| Abstrakt: |
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. |
