Mice lacking the mitochondrial exonuclease MGME1 develop inflammatory kidney disease with glomerular dysfunction

PLoS Genet. 2022 May 9;18(5):e1010190. doi: 10.1371/journal.pgen.1010190. eCollection 2022 May.

Abstract

Mitochondrial DNA (mtDNA) maintenance disorders are caused by mutations in ubiquitously expressed nuclear genes and lead to syndromes with variable disease severity and tissue-specific phenotypes. Loss of function mutations in the gene encoding the mitochondrial genome and maintenance exonuclease 1 (MGME1) result in deletions and depletion of mtDNA leading to adult-onset multisystem mitochondrial disease in humans. To better understand the in vivo function of MGME1 and the associated disease pathophysiology, we characterized a Mgme1 mouse knockout model by extensive phenotyping of ageing knockout animals. We show that loss of MGME1 leads to de novo formation of linear deleted mtDNA fragments that are constantly made and degraded. These findings contradict previous proposal that MGME1 is essential for degradation of linear mtDNA fragments and instead support a model where MGME1 has a critical role in completion of mtDNA replication. We report that Mgme1 knockout mice develop a dramatic phenotype as they age and display progressive weight loss, cataract and retinopathy. Surprisingly, aged animals also develop kidney inflammation, glomerular changes and severe chronic progressive nephropathy, consistent with nephrotic syndrome. These findings link the faulty mtDNA synthesis to severe inflammatory disease and thus show that defective mtDNA replication can trigger an immune response that causes age-associated progressive pathology in the kidney.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • DNA, Mitochondrial / genetics
  • DNA, Mitochondrial / metabolism
  • Kidney / metabolism
  • Kidney Diseases* / genetics
  • Mice
  • Mice, Knockout
  • Mitochondria / metabolism
  • Mitochondrial Diseases* / metabolism
  • Mutation

Substances

  • DNA, Mitochondrial

Grants and funding

This work was supported by grants to NGL from the Swedish Research Council (2015-00418), Swedish Cancer Foundation (2021.1409), the Knut and Alice Wallenberg foundation, European Research Council (ERC Advanced Grant 2016-741366), Novo Nordisk Foundation (NNF20OC0063616), Diabetesfonden (DIA2020-516) and grants from the Swedish state under the agreement between the Swedish government and the county councils (SLL2018.0471). GMC is supported by grants from the German Federal Ministry of Education and Research (Infrafrontier grant 01KX1012 to MHdA) and the German Center for Diabetes Research (DZD) (MHdA). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.