Rapamycin administration is not a valid therapeutic strategy for every case of mitochondrial disease.

ABSTRACT:

Background

The vast majority of mitochondrial disorders have limited the clinical management to palliative care. Rapamycin has emerged as a potential therapeutic drug for mitochondrial diseases since it has shown therapeutic benefits in a few mouse models of mitochondrial disorders. However, the underlying therapeutic mechanism is unclear, the minimal effective dose needs to be defined and whether this therapy can be generally used is unknown.

Methods

We have evaluated whether low and high doses of rapamycin administration may result in therapeutic effects in a mouse model (Coq9^R239X) of mitochondrial encephalopathy due to CoQ deficiency. The evaluation involved phenotypic, molecular, image (histopathology and MRI), metabolomics, transcriptomics and bioenergetics

SUBMITTER: Barriocanal-Casado E 

PROVIDER: S-EPMC6492073 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature