PLoS Genetics (Oct 2010)

Gimap3 regulates tissue-specific mitochondrial DNA segregation.

  • Riikka Jokinen,
  • Paula Marttinen,
  • Helen Katarin Sandell,
  • Tuula Manninen,
  • Heli Teerenhovi,
  • Timothy Wai,
  • Daniella Teoli,
  • J C Loredo-Osti,
  • Eric A Shoubridge,
  • Brendan J Battersby

DOI
https://doi.org/10.1371/journal.pgen.1001161
Journal volume & issue
Vol. 6, no. 10
p. e1001161

Abstract

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Mitochondrial DNA (mtDNA) sequence variants segregate in mutation and tissue-specific manners, but the mechanisms remain unknown. The segregation pattern of pathogenic mtDNA mutations is a major determinant of the onset and severity of disease. Using a heteroplasmic mouse model, we demonstrate that Gimap3, an outer mitochondrial membrane GTPase, is a critical regulator of this process in leukocytes. Gimap3 is important for T cell development and survival, suggesting that leukocyte survival may be a key factor in the genetic regulation of mtDNA sequence variants and in modulating human mitochondrial diseases.