Toggle Main Menu Toggle Search

Open Access padlockePrints

The unresolved role of mitochondrial DNA in Parkinson's disease: An overview of published studies, their limitations, and future prospects

Lookup NU author(s): Rebecca Brennan, Dr Ilse Pienaar, Professor Francois van der Westhuizen, Dr Joanna Elson


Full text for this publication is not currently held within this repository. Alternative links are provided below where available.


© 2019 Elsevier Ltd. Parkinson's disease (PD), a progressive neurodegenerative disorder, has long been associated with mitochondrial dysfunction in both sporadic and familial forms of the disease. Mitochondria are crucial for maintaining cellular homeostasis, and their dysfunction is detrimental to dopaminergic neurons. These neurons are highly dependent on mitochondrial adenosine triphosphate (ATP) and degenerate in PD. Mitochondria contain their own genomes (mtDNA). The role of mtDNA has been investigated in PD on the premise that it encodes vital components of the ATP-generating oxidative phosphorylation (OXPHOS) complexes and accumulates somatic variation with age. However, the association between mtDNA variation and PD remains controversial. Herein, we provide an overview of previously published studies on the role of inherited as well as somatic (acquired) mtDNA changes in PD including point mutations, deletions and depletion. We outline limitations of previous investigations and the difficulties associated with studying mtDNA, which have left its role unresolved in the context of PD. Lastly, we highlight the potential for further research in this field and provide suggestions for future studies. Overall, the mitochondrial genome is indispensable for proper cellular function and its contribution to PD requires further, more extensive investigation.

Publication metadata

Author(s): Muller-Nedebock AC, Brennan RR, Venter M, Pienaar IS, van der Westhuizen FH, Elson JL, Ross OA, Bardien S

Publication type: Review

Publication status: Published

Journal: Neurochemistry International

Year: 2019

Volume: 129

Print publication date: 01/10/2019

Online publication date: 21/06/2019

Acceptance date: 21/06/2019

ISSN (print): 0197-0186

ISSN (electronic): 1872-9754

Publisher: Elsevier Ltd


DOI: 10.1016/j.neuint.2019.104495