Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria
Ontology highlight
ABSTRACT:
INSTRUMENT(S): Q Exactive
ORGANISM(S): Homo Sapiens (human)
SUBMITTER: 
Xinping Li
LAB HEAD: Xinping Li
PROVIDER: PXD009138 | Pride | 2018-07-11
REPOSITORIES: Pride
Publications
Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria.
Matic Stanka S Jiang Min M Nicholls Thomas J TJ Uhler Jay P JP Dirksen-Schwanenland Caren C Polosa Paola Loguercio PL Simard Marie-Lune ML Li Xinping X Atanassov Ilian I Rackham Oliver O Filipovska Aleksandra A Stewart James B JB Falkenberg Maria M Larsson Nils-Göran NG Milenkovic Dusanka D
Nature communications 20180323 1
Replication of mammalian mitochondrial DNA (mtDNA) is an essential process that requires high fidelity and control at multiple levels to ensure proper mitochondrial function. Mutations in the mitochondrial genome maintenance exonuclease 1 (MGME1) gene were recently reported in mitochondrial disease patients. Here, to study disease pathophysiology, we generated Mgme1 knockout mice and report that homozygous knockouts develop depletion and multiple deletions of mtDNA. The mtDNA replication stallin ...[more]
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