LONP-1 and ATFS-1 sustain deleterious heteroplasmy by promoting mtDNA replication in dysfunctional mitochondria

Nat Cell Biol. 2022 Feb;24(2):181-193. doi: 10.1038/s41556-021-00840-5. Epub 2022 Feb 14.

Abstract

The accumulation of deleterious mitochondrial DNA (∆mtDNA) causes inherited mitochondrial diseases and ageing-associated decline in mitochondrial functions such as oxidative phosphorylation. Following mitochondrial perturbations, the bZIP protein ATFS-1 induces a transcriptional programme to restore mitochondrial function. Paradoxically, ATFS-1 is also required to maintain ∆mtDNAs in heteroplasmic worms. The mechanism by which ATFS-1 promotes ∆mtDNA accumulation relative to wild-type mtDNAs is unclear. Here we show that ATFS-1 accumulates in dysfunctional mitochondria. ATFS-1 is absent in healthy mitochondria owing to degradation by the mtDNA-bound protease LONP-1, which results in the nearly exclusive association between ATFS-1 and ∆mtDNAs in heteroplasmic worms. Moreover, we demonstrate that mitochondrial ATFS-1 promotes the binding of the mtDNA replicative polymerase (POLG) to ∆mtDNAs. Interestingly, inhibition of the mtDNA-bound protease LONP-1 increased ATFS-1 and POLG binding to wild-type mtDNAs. LONP-1 inhibition in Caenorhabditis elegans and human cybrid cells improved the heteroplasmy ratio and restored oxidative phosphorylation. Our findings suggest that ATFS-1 promotes mtDNA replication in dysfunctional mitochondria by promoting POLG-mtDNA binding, which is antagonized by LONP-1.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP-Dependent Proteases* / genetics
  • ATP-Dependent Proteases* / metabolism
  • Animals
  • Animals, Genetically Modified
  • Caenorhabditis elegans Proteins* / genetics
  • Caenorhabditis elegans Proteins* / metabolism
  • Caenorhabditis elegans* / genetics
  • Caenorhabditis elegans* / metabolism
  • Cell Line
  • DNA Polymerase gamma / genetics
  • DNA Polymerase gamma / metabolism
  • DNA Replication*
  • DNA, Mitochondrial* / biosynthesis
  • DNA, Mitochondrial* / genetics
  • Heteroplasmy*
  • Humans
  • Mitochondria* / genetics
  • Mitochondria* / metabolism
  • Mitochondria* / pathology
  • Mitochondrial Proteins* / genetics
  • Mitochondrial Proteins* / metabolism
  • Oxidative Phosphorylation*
  • Proteolysis
  • Transcription Factors* / genetics
  • Transcription Factors* / metabolism

Substances

  • ATFS-1 protein, C elegans
  • ATP-Dependent Proteases
  • Caenorhabditis elegans Proteins
  • DNA Polymerase gamma
  • DNA, Mitochondrial
  • LONP1 protein, human
  • Mitochondrial Proteins
  • Polg-1 protein, C elegans
  • Transcription Factors
  • LONP-1 protein, C elegans