[Mitochondrial DNA: properties and applications].
Mitochondria are the intracellular organelle responsible for the production of cellular energy. They play an important role in the regulation of cellular metabolism, apoptosis and oxydative stress control. Mitochondrial DNA (mtDNA) has many special features such as a high copy number in cell, maternal inheritance, and a high mutation rate which have made it attractive to scientists from many fields. In anthropological genetics, mtDNA is useful to trace geographic distribution of genetic variation, for the investigation of expansions, migrations and other pattern of gene flow. mtDNA is widely applicated in forensic science. It is a powerful implement to identify human remains. mtDNA is characterized by the high rate of polymorphisms and mutations. Some of which are increasingly recognized as an important cause of human pathology such as oxidative phosphorylation (OXPHOS) disorders, maternally inherited diabetes and deafness (MIDD), Type 2 diabetes mellitus, neurodegenerative disorders, heart failure and cancer.
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R Kefi-Ben
RK
UR26/04: Exploration Moléculaire des Maladies Orphelines d'origine Génétique-Institut Pasteur de Tunis, 13 Place Pasteur BP 74-1002 Tunis Belvédère. rym.kefi@pasteur.rns.tn
Hsouna
S
S
Beraud-Colomb
E
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Abdelhak
S
S
D017209:Apoptosis / Q000502:physiology; D004261:DNA Replication / Q000502:physiology; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000502:physiology / Q000627:therapeutic use; D004734:Energy Metabolism / Q000502:physiology; D018732:Forensic Anthropology / Q000379:methods; D005554:Forensic Medicine / Q000379:methods; D050259:Genes, Mitochondrial / Q000502:physiology; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D028361:Mitochondrial Diseases / Q000235:genetics; D020412:Multifactorial Inheritance / Q000502:physiology; D009154:Mutation / Q000235:genetics; D010085:Oxidative Phosphorylation; D018384:Oxidative Stress / Q000502:physiology; D011110:Polymorphism, Genetic / Q000235:genetics; D014158:Transcription, Genetic / Q000502:physiology
D004272:DNA, Mitochondrial