Ontology highlight
ABSTRACT:
SUBMITTER: Ignatenko O
PROVIDER: S-EPMC7409372 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
Ignatenko Olesia O Nikkanen Joni J Kononov Alexander A Zamboni Nicola N Ince-Dunn Gulayse G Suomalainen Anu A
Life science alliance 20200731 9
Mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a group of severe, tissue-specific diseases of childhood with unknown pathogenesis. Brain-specific MDS manifests as devastating spongiotic encephalopathy with no curative therapy. Here, we report cell type-specific stress responses and effects of rapamycin treatment and ketogenic diet (KD) in mice with spongiotic encephalopathy mimicking human MDS, as these interventions were reported to improve some mitochondrial disease signs or symptoms. T ...[more]