A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency.

Date publication

janvier 2011

Journal

Journal of medical genetics

Auteurs

Membres identifiés du Cancéropôle Est :
Pr LEBRE Anne-Sophie

Tous les auteurs :
Lebre AS, Rio M, Faivre d'Arcier L, Vernerey D, Landrieu P, Slama A, Jardel C, Laforêt P, Rodriguez D, Dorison N, Galanaud D, Chabrol B, Paquis-Flucklinger V, Grévent D, Edvardson S, Steffann J, Funalot B, Villeneuve N, Valayannopoulos V, de Lonlay P, Desguerre I, Brunelle F, Bonnefont JP, Rötig A, Munnich A, Boddaert N

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/20972245

Résumé

To identify a consistent pattern of brain MRI imaging in primary complex I deficiency. Complex I deficiency, a major cause of respiratory chain dysfunction, accounts for various clinical presentations, including Leigh syndrome. Human complex I comprises seven core subunits encoded by mitochondrial DNA (mtDNA) and 38 core subunits encoded by nuclear DNA (nDNA). Moreover, its assembly requires six known and many unknown assembly factors. To date, no correlation between genotypes and brain MRI phenotypes has been found in complex I deficiencies.

Mots clés

Adolescent, Adult, Brain, enzymology, Child, Child, Preschool, Electron Transport Complex I, deficiency, Female, Humans, Infant, Leukoencephalopathies, complications, Magnetic Resonance Imaging, methods, Male, Middle Aged, Mitochondrial Diseases, diagnostic imaging, Mutation, genetics, Pyruvate Dehydrogenase Complex, genetics, Radiography, Stroke, complications, Young Adult

Référence

J. Med. Genet.. 2011 Jan;48(1):16-23