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The mtDNA nt7778 G/T polymorphism affects autoimmune diseases and reproductive performance in the mouse

Yu, Xinhua, Wester-Rosenlöf, Lena, Gimsa, Ulrike, Holzhueter, Stephanie-Anna, Marques, Andreia, Jonas, Ludwig, Hagenow, Kristin, Kunz, Manfred, Nizze, Horst, Tiedge, Markus, Holmdahl, Rikard, Ibrahim, Saleh M.·2009·Human Molecular Genetics
DOI 10.1093/hmg/ddp432
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Abstract

Mitochondria are organelles of all nucleated cells, and variations in mtDNA sequence affect a wide spectrum of human diseases. However, animal models for mtDNA-associated diseases are rare, making it challenging to explore mechanisms underlying the contribution of mitochondria. Here, we identify a polymorphism in the mitochondrial genome, G-to-T at position 7778, which results in an aspartic acid-to-tyrosine (D-Y) substitution in the fifth amino acid of the highly conserved N-terminus of ATP synthase 8 (ATP8). Using a series of conplastic strains we show that this polymorphism increases susceptibility to multiple autoimmune diseases, including collagen-induced arthritis, autoimmune diabetes, nephritis and autoimmune pancreatitis. In addition, it impairs reproductive performance in females, but only in the MRL/MpJ strain. We also demonstrate that the mtAtp8 polymorphism alters mitochondrial performance, increasing H(2)O(2) production and affecting mitochondrial structure. Functional analysis reveals that the polymorphism increase the CD4 T cell adaptive potential to an oxidative phosphorylation impaired condition. Our findings provide direct experimental evidence for the role of mitochondria in autoimmunity and reproduction.

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Research works printed but not linked: 35

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Metadata

Authors
Yu, X., Wester-Rosenlöf, L., Gimsa, U., Holzhueter, S.-A., Marques, A., Jonas, L., Hagenow, K., Kunz, M., Nizze, H., Tiedge, M., Holmdahl, R., & Ibrahim, S. M.
Venue
Human Molecular Genetics
Publisher
Oxford University Press (OUP)
Published
2009-09-16
Volume
18
Issue
24
Pages
4689-4698
ISSN
  • 1460-2083
  • 0964-6906
DOI
10.1093/hmg/ddp432
Cited by
47
References
3
Language
en

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