Twin pair analysis uncovers links between DNA methylation, mitochondrial DNA quantity and obesity

Aino Heikkinen (), Vivienne F. C. Esser, Seung Hyuk T. Lee, Sara Lundgren, Antti Hakkarainen, Jesper Lundbom, Juho Kuula, Per-Henrik Groop, Sini Heinonen, Sergio Villicaña, Jordana T. Bell, Alice Maguolo, Emma Nilsson, Charlotte Ling, Allan Vaag, Päivi Pajukanta, Jaakko Kaprio, Kirsi H. Pietiläinen, Shuai Li and Miina Ollikainen ()
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Aino Heikkinen: University of Helsinki
Vivienne F. C. Esser: University of Melbourne
Seung Hyuk T. Lee: David Geffen School of Medicine at UCLA
Sara Lundgren: University of Helsinki
Antti Hakkarainen: University of Helsinki and Helsinki University Hospital
Jesper Lundbom: University of Helsinki and Helsinki University Hospital
Juho Kuula: University of Helsinki and Helsinki University Hospital
Per-Henrik Groop: Folkhälsan Research Center
Sini Heinonen: University of Helsinki
Sergio Villicaña: King’s College London
Jordana T. Bell: King’s College London
Alice Maguolo: Scania University Hospital
Emma Nilsson: Scania University Hospital
Charlotte Ling: Scania University Hospital
Allan Vaag: Scania University Hospital
Päivi Pajukanta: David Geffen School of Medicine at UCLA
Jaakko Kaprio: University of Helsinki
Kirsi H. Pietiläinen: University of Helsinki
Shuai Li: University of Melbourne
Miina Ollikainen: University of Helsinki

Nature Communications, 2025, vol. 16, issue 1, 1-14

Abstract: Abstract Alterations in mitochondrial metabolism in obesity may indicate disrupted communication between mitochondria and nucleus, and DNA methylation may influence this interplay. Here, we leverage data from the Finnish Twin Cohort study subcohort (n = 173; 86 full twin pairs, 1 singleton), including comprehensive measurements of obesity-related outcomes, mitochondrial DNA quantity and nuclear DNA methylation levels in adipose and muscle tissue, to identify one CpG at SH3BP4 significantly associated with mitochondrial DNA quantity in adipose tissue (FDR

Date: 2025
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DOI: 10.1038/s41467-025-59576-7

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