7420: The use of Amino Acids to Enhance the Activity of Enzymes Involved in Mitochondrial Translation Defects: a Possible Therapeutic Approach

Summary

The purpose of this study is to determine if the treatment of cells from patients with certain types of mitochondrial diseases with natural supplements such amino acids will improve the function of those cells.

About this Study

There will not be any human participants in this study. Fibroblasts from patients with known primary mitochondrial diseases will be used.

We hypothesize that the addition of the appropriate amino acid to tissue culture medium used to grow fibroblasts from patients with certain mitochondrial translation defects will result in the enhancement of the activity of the targeted enzyme.