Mitochondrial DNA haplotypes influence preimplantation development

Lead researcher

Professor Justin St. John

Main finding

Using a preclinical model, we have demonstrated that mitochondrial DNA haplotypes, which are indicative of common maternal ancestry, do not define breed. Indeed, mitochondrial DNA haplotypes tend to cross breeds. However, they are indicative of specific traits such as fertility.


Centre for Genetic Diseases

Research group

Mitochondrial Genetics


Miss Kanokwan Srirattana
Dr Kieren McCosker
Dr Tim Schatz

Journal and article title

Most surprising

Mitochondrial profiles do not always match with the individual’s phenotype. Moreover, mitochondrial DNA haplotypes affect oocyte quality and embryo development.

Future implications

Our findings are important for human genetics as they show that mitochondrial DNA haplotypes rather than ethnic origin are a more reliable tool for assessing predisposition to disease.

Disease/health impact

Maternal inheritance of mitochondrial DNA; infertility

Other points of interest

Mitochondria house the mitochondrial DNA which play important roles in energy production, cell death, and the control of stress responses. Mitochondrial DNA haplotypes are indicative of a number of traits including sperm motility, adaptation to warm and cold temperatures, longevity and age-associated disorders. Moreover, defects to mitochondrial DNA, such as mutations, can cause severe mitochondrial diseases, such as Leigh syndrome and Leber's hereditary optic neuropathy.