(Kai-Ti Chang and Randy Strich)

  • 2022
  • Mechanistic experiments performed of MED13L impact on cyclin C and role in the cytoplasm on mitochondria 
  • Using a patient derived frameshift variant, increase cyclin C in the cytoplasm, mitochondrial break down and reduction in respiration was observed.
  • In addition, the fibroblasts had a reduced number of mitochondria 
  • Using a drug that is not FDA approved as well as novel CRISPR technology, rescue of mitochondria dysfunction was shown. 
  • This has been the basis for additional research grant funded by the MED13L Foundation