JoI am a lecturer who has worked in the team for nearly fifteen years. I look at mtDNA disease through the prism of evolution, and apply informatics techniques to help develop methods which identify pathogenic mtDNA mutations. I have worked with many other members of the team as well as investigators overseas. Most recently, I have formed a close collaboration with investigators and clinicians in South Africa whose patients have different clinical presentations making them difficult to diagnose. Here I have been motivated by a desire to help replicate the strides made at Newcastle and other centres in identifying mtDNA patients in order to aid them.

Research Project

mtDNA, Evolution and disease

Principal Investigators: Dr Joanna ElsonOther staff members involved:  Professor Rob Taylor, Dr Robert McFarland and Professor Patrick Chinnery

Project Details

Mitochondrial DNA (mtDNA) is widely used to study population histories, many people have heard of “mitochondrial eve”. MtDNA is an excellent tool for this as it has a high mutation rate producing lots of signal, and it is inherited from the mother alone.

Mutations of mtDNA are frequent and are implicated in many different types of pathology. An important theme of my research is the evolutionary processes that have shaped mtDNA variation in modern human populations, and applying this knowledge to better understand disease.

• I use evolutionary concepts and computational methods in assigning pathogenicity to mtDNA variants in patients with clinically manifesting mitochondrial disease.

• I also work on trying to deduce whether mtDNA variation has a role in common disease, including, but not limited to Type 2 Diabetes, Alzheimer’s disease, Parkinson’s disease, Sepsis and Multiple Sclerosis.

Email: [email protected]

Professor Julia Newton, Associate Dean for Clinical Developments and Clinical Professor of Ageing and Medicine, Newcastle University
Professor Francois Van Der Westhuizen at North-West University South Africa


• Yarham JW, McFarland R, Taylor R, Elson JL: A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations.
Mitochondrion 2012: 2012 Sep;12(5):533-8

Elson JL, Swalwell H, Blakely EL, McFarland R, Taylor RW, Turnbull DM: Pathogenic mitochondrial tRNA mutations – Which mutations are Inherited and why?
Human Mutation 2009, 30(11):E984-E992

• Stewart JB, Freyer C, Elson JL, Wredenberg A, Cansu Z, Trifunovic A, Larsson NG: Strong purifying selection in transmission of mammalian mitochondrial DNA.
Plos Biology 2008, 6(1):63-71

Elson JL, Herrnstadt C, Preston G, Thal L, Morris CM, Edwardson JA, Beal MF, Turnbull DM, Howell N: Does the mitochondrial genome play a role in the etiology of Alzheimer’s disease?
Human Genetics 2006, 119(3):241-254

Elson JL, Samuels DC, Turnbull DM, Chinnery PF: Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age.
American Journal of Human Genetics 2001, 68(3):802-806