Klinický dopad poruch cytochrom-c-oxidasy

Böhm, Marek

This thesis has been worked out in The Laboratory for Study of Mitochondrial Disorders, Department of Paediatrics, 1st Faculty of Medicine, Charles University in Prague. A retrospective multicentric study in 180 children with cytochrome c oxidase (COX) deficiency was designed in cooperation with the Division of Metabolic Diseases in Department of Paediatrics, The Children's Memorial Health Institute, Warsaw, Poland. The survey was focused on clinical manifestation, molecular background and prognosis of the disease and showed that COX deficiency in childhood represents a heterogeneous group of diseases with significantly unfavourable prognosis. Genetic counselling in affected families requires detailed characterization of COX deficiency at the molecular level. An underlying genetic defect was found in 42 % of patients by detection of mutation in mitochondrial DNA (mtDNA) or in nuclear coded genes for proteins surf1 and sco2 that contribute to COX assemblation. Isolated defects of COX were found in patients with mutations in SURF1 or SCO2 genes, whereas in the patients with mutations in mtDNA was the defect of COX combined with decreased activities of one or more other respiratory chain complexes. In the second part of the work, activities of respiratory chain complexes in isolated platelets were analysed in...

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