Mitochondrial DNA mutations in association with birth weight and BMI in the early life of twins

Abstract

Recently published papers dispute the importance of mitochondrial DNA mutations in birth weight, BMI and common metabolic disorders like diabetes. Heteroplasmy (i.e. differences in mutations between individuals or between diverse tissues and organs in one individual) of the mitochondrial DNA might be a missing part explaining the heritable susceptibility to obesity. However, not only the association of heteroplasmy with BMI or birth weight is unclear, but also the nature of the mutations is still under discussion. Twin studies provide a very useful way to study the effects of nature versus nurture on various processes. Therefore, we hypothesize that these specific mtDNA mutations, namely MT-ND4L10550[A/G], MT-ND411719[A/G] and MT-ND513780[A/G], are mainly determined by the genetic inheritance in twins and that they are indeed associated with birth weight and BMI, using the Limburg Twin Study.