Oldies but Goldies mtDNA Population Variants and Neurodegenerative Diseases.
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Chinnery, P., & Gomez-Duran, A. (2018). Oldies but Goldies mtDNA Population Variants and Neurodegenerative Diseases.. Front Neurosci, 12 682. https://doi.org/10.3389/fnins.2018.00682
mtDNA is transmitted through the maternal line and its sequence variability, which is population specific, is assumed to be phenotypically neutral. However, several studies have shown associations between the variants defining some genetic backgrounds and the susceptibility to several pathogenic phenotypes, including neurodegenerative diseases. Many of these studies have found that some of these variants impact many of these phenotypes, including the ones defining the Caucasian haplogroups H, J, and Uk, while others, such as the ones defining the T haplogroup, have phenotype specific associations. In this review, we will focus on those that have shown a pleiotropic effect in population studies in neurological diseases. We will also explore their bioenergetic and genomic characteristics in order to provide an insight into the role of these variants in disease. Given the importance of mitochondrial population variants in neurodegenerative diseases a deeper analysis of their effects might unravel new mechanisms of disease and help design new strategies for successful treatments.
A.G.D receives support from NIHR Biomedical Research Centre pilot studies (RROI.GAAB). P. F. C. is a Wellcome Trust Senior Fellow in Clinical Science (101876/Z/13/Z), and a UK NIHR Senior Investigator, who receives support from the Medical Research Council Mitochondrial Biology Unit (MC_UP_1501/2), the Medical Research Council (UK) Centre for Translational Muscle Disease (G0601943), and the National Institute for Health Research (NIHR) Biomedical Research Centre based at Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health.
Wellcome Trust (101876/Z/13/Z)
Wellcome Trust (101876/B/13/A)
External DOI: https://doi.org/10.3389/fnins.2018.00682
This record's URL: https://www.repository.cam.ac.uk/handle/1810/286211
Attribution 4.0 International
Licence URL: https://creativecommons.org/licenses/by/4.0/