Human Genetics

, Volume 133, Issue 3, pp 247–257

Environmental exposure and mitochondrial epigenetics: study design and analytical challenges

Review Paper

DOI: 10.1007/s00439-013-1417-x

Cite this article as:
Byun, HM. & Baccarelli, A.A. Hum Genet (2014) 133: 247. doi:10.1007/s00439-013-1417-x


The environment can influence human health and disease in many harmful ways. Many epidemiological studies have been conducted with the aim of elucidating the association between environmental exposure and human disease at the molecular and pathological levels, and such associations can often be through induced epigenetic changes. One such mechanism for this is through environmental factors increasing oxidative stress in the cell, and this stress can subsequently lead to alterations in DNA molecules. The two cellular organelles that contain DNA are the nucleus and mitochondria, and the latter are particularly sensitive to oxidative stress, with mitochondrial functions often disrupted by increased stress. There has been a substantial increase over the past decade in the number of epigenetic studies investigating the impact of environmental exposures upon genomic DNA, but to date there has been insufficient attention paid to the impact upon mitochondrial epigenetics in studying human disease with exposure to environment. Here, in this review, we will discuss mitochondrial epigenetics with regard to epidemiological studies, with particular consideration given to study design and analytical challenges. Furthermore, we suggest future directions and perspectives in the field of mitochondrial epigenetic epidemiological studies.

Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  1. 1.Exposure Epidemiology and Risk Program, Laboratory of Environmental EpigeneticsHarvard School of Public HealthBostonUSA