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The study of molecular and biochemical bases of cytochrome c oxidase deficiency
Veselá, Kateřina ; Zeman, Jiří (advisor) ; Farghali, Hassan (referee) ; Drahota, Zdeněk (referee)
This thesis has been worked out in The laboratory for study of mitochondrial disorders (Department of Pediatrics, 1st faculty of Medicine, Charles Univezity in Praha), which serves as the diagnostic center for patients from Czech and Slovak Republics. During the last years, more than 40 children with isolated COX deficiency were diagnosed in our lab. But molecular background except 12 patients with mutations in SURF1 gene was remaining unknown. Due to the lack of adequate treatment for these patients, the genetic counseling and the possibility of prenatal diagnostics have high importance for the families. The possible dual origin of the defect with different hereditary aspects makes the genetic counseling in the affected families complicated and prenatal diagnostics based only on biochemical analyses very problematical if even possible. This work had been arisen basically from the necessity to find the molecular background of isolated COX deficiency in our patients. In addition of simple characterization of molecular background and optimalization of methods for routine diagnostics, we were able to study the impact of several mutations in nuclear genes for COX assembly factors on the biochemical, structural and histochemical level in affected tissues.
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