Mitochondrial DNA haplotypes affect the expression of chromosomal genes.

Lead researcher

Professor Jus St. John

Main finding

We developed an embryonic stem cell model to test the influence that different mitochondrial DNA genetic backgrounds (mtDNA haplotypes) have on cell fate and chromosomal gene expression patterns. In our model, each of the cell lines had the same chromosomal genotypes but different mtDNA haplotypes. We found that each of the haplotypes regulated chromosomal gene expression patterns very differently. This was mediated by different DNA methylation patterns that were established by the cell's mtDNA haplotype.



Research group

Mitochondrial Genetics Group


Dr William Lee
Ms Xin (Claire) Sun
Ms Te-Sha Tsai
Ms Jacqui Johnson
Ms Jodee Gould
Dr Daniel Garama
Dr Daniel Gough
Dr Matthew McKenzie
Associate Professor Ian Trounce

Journal and article title

Most surprising

Our results are surprising as they show that DNA methylation patterns can be regulated by a cell's mtDNA. It was previously thought that mtDNA was only involved in energy production. However, this view is now changing and our work shows that the interaction between the nucleus, which houses the chromosomes, and mtDNA can affect key metabolic pathways in a cell that modulate factors that establish and regulate DNA methylation.

Future implications

Our findings go some way to explain why groups of people who can be defined by their mtDNA haplotypes are more predisposed to certain diseases such as cancer and diabetes.

Disease/health impact