[Mitochondrial genome instability and associated diseases].
Some cases of mitochondrial diseases are due to mitochondrial DNA instability: multiple deletions or depletions. These anomalies are responsible for a mitochondrial respiratory chain impairment leading to various clinical involvements ranging from mild features with multiple mtDNA deletions to severe organ failure and premature death caused by mtDNA depletions. Both, deletions and depletions share an important and common feature between these two specificities: indeed, both are expressed in a tissue-specific manner.
Sarzi
Emmanuelle
E
Inserm U781, Hôpital Necker Enfants malades, 75015 Paris, France. emmanuelle.sarzi@inserm.fr
Rötig
Agnès
A
D033741:Adenine Nucleotide Translocator 1 / Q000235:genetics / Q000502:physiology; D003600:Cytosol / Q000378:metabolism; D004261:DNA Replication; D004272:DNA, Mitochondrial / Q000235:genetics*; D003854:Deoxyribonucleotides / Q000378:metabolism; D004579:Electron Transport / Q000235:genetics; D020558:GTP Phosphohydrolases / Q000235:genetics / Q000502:physiology; D042822:Genomic Instability; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics / Q000502:physiology; D028361:Mitochondrial Diseases / Q000235:genetics*; D051336:Mitochondrial Membranes / Q000378:metabolism; D017384:Sequence Deletion
D033741:Adenine Nucleotide Translocator 1; D004272:DNA, Mitochondrial; D003854:Deoxyribonucleotides; D008565:Membrane Proteins; D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human