UPR^mt activation improves pathological alterations in cellular models of mitochondrial diseases.

ABSTRACT:

Background

Mitochondrial diseases represent one of the most common groups of genetic diseases. With a prevalence greater than 1 in 5000 adults, such diseases still lack effective treatment. Current therapies are purely palliative and, in most cases, insufficient. Novel approaches to compensate and, if possible, revert mitochondrial dysfunction must be developed.

Results

In this study, we tackled the issue using as a model fibroblasts from a patient bearing a mutation in the GFM1 gene, which is involved in mitochondrial protein synthesis. Mutant GFM1 fibroblasts could not survive in galactose restrictive medium for more than 3 days, making them the perfect screening platform to test several compounds. Tetracycline enabled mutant GFM1 fibroblasts survival under nutritional str

SUBMITTER: Suarez-Rivero JM 

PROVIDER: S-EPMC9115953 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature