Mitochondrial Genetics and Epigenetics


Mitochondria are dynamic, communicating and highly regulated organelles under the dual control of nuclear DNA (1500 genes) and their own mitochondrial DNA, a 16.6 kb circular DNA molecule (mtDNA), encoding 22 tRNA, 2 rRNA and 13 subunits of the OXPHOS system. Those unique features are responsible for the complexity of mitochondria biology in health and disease.

In the last decade, the application of next generation sequencing techniques has shed light on several processes governing mitochondrial genetics. This include: dissecting transcription and translation processes, identifying mitochondrial DNA and RNA modifications in tissues or application of single-cell based essays to characterise new several disease-causing genes in primary mitochondrial disorders and other common diseases. In addition, cell biology and animal models’ studies performed in combination with multi-omic approaches have revealed the central role of the mitochondria in innate immune system, stem cell differentiation, bioenergetics, metabolism as well as cell signalling and transcriptional, epigenomic regulation. Results from epi-transcriptome and epigenome studies have already had an influence on the management of diseases with high-social impact. Gene expression screenings are currently undergoing for better understanding of disease risk and predicting therapy efficacy/resistance. In addition, key genes in metabolism have been considered as target for the development of new treatment strategies.

In our Research Topic, we are aiming to give an overview on how genetic variants involved in mitochondrial and common disease influence gene expression and the epigenome at genomic and mitochondrial levels. We will report recent advances on mtRNA (transfer, messenger, ribosomal) processing, maturation and modifications in health and diseases. We will explore the landscape of mitochondrial epigenetics by introducing the mitoepigenome and epitranscriptome and specific and interesting processes such mitochondrial DNA methylation and hydroxy-methylation. Finally, we will present the mitochondria as a center of metabolic and epigenetic modifications in cancer and neurodegenerative diseases as well as biological processes like aging.

We are considering in our list of authors, clinical geneticists and basic and translational scientists in order to tackle the topics from different angles. We will prioritize research articles (Original Research or Brief Case Report) to Review (or Mini-Review) in order to bring novelties to the attention of the scientific community. The Guest Editors would strongly encourage the submission of an abstract before the full manuscript submission.

This Research Topic will be an opportunity to pharmacologists, geneticists, and other researchers in order to intensify collaborations. Submissions can be done either by Editorial Tracking System or through mail to

Media Contact:

Kathy Andrews
Managing Editor
Journal of Genomics & Gene Study