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Master Thesis

Le séquençage nouvelle génération du génome mitochondrial dans le diagnostic des cytopathies mitochondriales

Abstract : Mitochondrial diseases are a group of genetic disorders that arise from a defect of the mitochondrial respiratory chain. The role of the mitochondrial respiratory chain is to generate ATP molecules, the main cellular source of energy. It is composed of five protein complexes (I,II,III,IV,V), encoded by either nuclear DNA or mitochondrial DNA. Mitochondrial diseases are a group of clinically heterogeneous disorders, commonly associated with the elevation of the lactic acid in the plasma or in the cerebral spinal fluid. It is noteworthy that the activity of mitochondrial complexes can be measured in vitro, in tissues or cellular cultures. However, the absence of metabolic derangement and normal complexes activity do not exclude the diagnosis. Molecular analyses are the most efficient way to confirm mitochondrial disease. However, molecular diagnosis is challenging because of the extreme molecular heterogeneity. Indeed, more than 250 nuclear genes have been implicated in mitochondrial disease and this number is still expanding. Moreover, sequencing of the entire mitochondrial DNA (16.5kb) is not realized in routine laboratory work by Sanger method, which is a very expensive and long process. Thus, only few mutations and large scale rearrangements are commonly investigated. In this project we aimed to develop the new generation sequencing (NGS), a rapid and less expensive method, to study mitochondrial DNA in Bordeaux hospital. We have also evaluated the yield of this new technique to identify new mutations in a group of patients, presented with clinical suspicion of mitochondrial disease.
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Master Thesis
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https://dumas.ccsd.cnrs.fr/dumas-01218641
Contributor : Bu Carreire Université de Bordeaux <>
Submitted on : Wednesday, October 21, 2015 - 3:04:34 PM
Last modification on : Wednesday, August 23, 2017 - 4:40:16 PM
Long-term archiving on: : Friday, April 28, 2017 - 8:23:16 AM

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  • HAL Id : dumas-01218641, version 1

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Nada Houcinat. Le séquençage nouvelle génération du génome mitochondrial dans le diagnostic des cytopathies mitochondriales. Médecine humaine et pathologie. 2015. ⟨dumas-01218641⟩

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