Mitochondrial Biology

The group of Nils-Göran Larsson focuses on mitochondrial genetics and the impact of mitochondrial dysfunction on disease and ageing.

Mitochondrial dysfunction is heavily implicated in the ageing process. Ageing humans have increased levels of somatic mutations in the mitochondrial genome that tend to undergo clonal expansion to cause mosaic deficiencies in the respiratory chain. The oxidative phosphorylation (OXPHOS) system produces adenosine triphosphate (ATP), the universal source of energy in all tissues. Respiratory chain dysfunction, and thus insufficient supply of ATP, can cause a variety of phenotypes associated with ageing, age-related- and mitochondrial diseases. | more |

Selected publications

POLRMT regulates the switch between replication primer formation and gene expression of mammalian mtDNA

  • Kuhl, I.
  • Miranda, M.
  • Posse, V.
  • Milenkovic, D.
  • Mourier, A.
  • Siira, S. J.
  • Bonekamp, N. A.
  • Neumann, U.
  • Filipovska, A.
  • Polosa, P. L.
  • Gustafsson, C. M.
  • Larsson, N. G.
(2016) Sci Adv, 2(8): e1600963

NSUN4 is a dual function mitochondrial protein required for both methylation of 12S rRNA and coordination of mitoribosomal assembly

  • Metodiev, M. D.
  • Spahr, H.
  • Loguercio Polosa, P.
  • Meharg, C.
  • Becker, C.
  • Altmueller, J.
  • Habermann, B.
  • Larsson, N. G.
  • Ruzzenente, B.
(2014) PLoS Genet, 10(2): e1004110

Germline mitochondrial DNA mutations aggravate ageing and can impair brain development

  • Ross, J. M.
  • Stewart, J. B.
  • Hagstrom, E.
  • Brene, S.
  • Mourier, A.
  • Coppotelli, G.
  • Freyer, C.
  • Lagouge, M.
  • Hoffer, B. J.
  • Olson, L.
  • Larsson, N. G.
(2013) Nature, 501(7467): 412-5

Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission

  • Freyer, C.
  • Cree, L. M.
  • Mourier, A.
  • Stewart, J. B.
  • Koolmeister, C.
  • Milenkovic, D.
  • Wai, T.
  • Floros, V. I.
  • Hagstrom, E.
  • Chatzidaki, E. E.
  • Wiesner, R. J.
  • Samuels, D. C.
  • Larsson, N. G.
  • Chinnery, P. F.
(2012) Nat Genet, 44(11): 1282-5

Somatic mitochondrial DNA mutations in mammalian aging

  • Larsson, N. G.
(2010) Annu Rev Biochem, 79: 683-706

Third-party funding

  • 2017-2021 | European Research Council (ERC) H2020, Advanced Grant
    mtDNA-CURE: Treating mitochondrial disease caused by pathogenic mtDNA mutations

  • 2017-2020 | DFG
    SFB 1218: Mitochondrial regulation of cellular function

  • 2013 - 2017 | DFG
    CECAD: EXC 229 - to support collaborative research