{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Smith LA"],"funding":["Medical Research Council","National Institute for Health Research (NIHR)","Wellcome Trust Centre for Mitochondrial Research","Wellcome Trust"],"pagination":["e12833"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9546160"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["48(6)"],"pubmed_abstract":["<h4>Aims</h4>Alpers' syndrome is a severe neurodegenerative disease typically caused by bi-allelic variants in the mitochondrial DNA (mtDNA) polymerase gene, POLG, leading to mtDNA depletion. Intractable epilepsy, often with an occipital focus, and extensive neurodegeneration are prominent features of Alpers' syndrome. Mitochondrial oxidative phosphorylation (OXPHOS) is severely impaired with mtDNA depletion and is likely to be a major contributor to the epilepsy and neurodegeneration in Alpers' syndrome. We hypothesised that parvalbumin-positive(+) interneurons, a neuronal class critical for inhibitory regulation of physiological cortical rhythms, would be particularly vulnerable in Alpers' syndrome due to the excessive energy demands necessary to sustain their fast-spiking activity.<h4>M"],"journal":["Neuropathology and applied neurobiology"],"pubmed_title":["Delineating selective vulnerability of inhibitory interneurons in Alpers' syndrome."],"pmcid":["PMC9546160"],"funding_grant_id":["G0400074","MR/S005021/1","G0800674","203105/Z/16/Z"],"pubmed_authors":["Blain A","Taylor RW","Lax NZ","Erskine D","Smith LA","McFarland R"],"additional_accession":[]},"is_claimable":false,"name":"Delineating selective vulnerability of inhibitory interneurons in Alpers' syndrome.","description":"<h4>Aims</h4>Alpers' syndrome is a severe neurodegenerative disease typically caused by bi-allelic variants in the mitochondrial DNA (mtDNA) polymerase gene, POLG, leading to mtDNA depletion. Intractable epilepsy, often with an occipital focus, and extensive neurodegeneration are prominent features of Alpers' syndrome. Mitochondrial oxidative phosphorylation (OXPHOS) is severely impaired with mtDNA depletion and is likely to be a major contributor to the epilepsy and neurodegeneration in Alpers' syndrome. We hypothesised that parvalbumin-positive(+) interneurons, a neuronal class critical for inhibitory regulation of physiological cortical rhythms, would be particularly vulnerable in Alpers' syndrome due to the excessive energy demands necessary to sustain their fast-spiking activity.<h4>M","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Oct","modification":"2026-06-01T02:09:53.383Z","creation":"2025-02-19T01:28:13.377Z"},"accession":"S-EPMC9546160","cross_references":{"pubmed":["35790454"],"doi":["10.1111/nan.12833"]}}