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Research Aimed

to Find Treatments for Mitochondrial Diseases

 

 

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 resulting from a large number of mutations. The clinical symptoms and outcome differ even if the same respiratory chain complex is affected, depending on which subunit 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)

  

Publications on the subject

 

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






            
  
 


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