Summary
(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
