Despite the growing ability to diagnose mitochondrial diseases there is currently no definitive treatment for these disorders. The relatively small number of patients does not allow large scale clinical trials. Moreover, these disorders are diverse and as they can result from a large number of mutations. The clinical symptoms and outcome differ, even if the same respiratory chain complex is affected, as it is also dependent on which sub-unit is mutated.
Our model system are fibroblasts cultured from patients skin on which the effect of various treatments can be evaluated compared to untreated cells.
The research is supported by
- The Ministry of Justice
- The Ministry of Health
- The United Mitochondrial Disease Foundation (UMDF) (In collaboration with Prof. Haya Galsky)
- The Israeli-US Binational Science Foundation (BSF)
- Saada A, Aptowitzer I, Link G, Elpeleg O. ATP synthesis in lipoamide dehydrogenase deficiency. Biochem Biophys Res Commun 2000;269:382-386.
- Bar-Meir M, Elpeleg O, Saada A. Effect of various agents on adenosine triphosphate synthesis in mitochondrial complex I deficiency. J Pediatr 2001;139:868-870
- Saada A, Bar-Meir M, Belaiche C, Miller C, Elpeleg O. Evaluation of enzymatic assays and compounds affecting ATP production in mitochondrial respiratory chain complex I deficiency. Anal Biochem 2004;335:66-72