Oldies but Goldies mtDNA Population Variants and Neurodegenerative Diseases.
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Authors
Chinnery, Patrick F
Gomez-Duran, Aurora
Publication Date
2018Journal Title
Front Neurosci
ISSN
1662-4548
Publisher
Frontiers Media SA
Volume
12
Pages
682
Language
eng
Type
Article
Physical Medium
Electronic-eCollection
Metadata
Show full item recordCitation
Chinnery, P. F., & 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
Abstract
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.
Keywords
LHON, PD, haplogroups, mtDNA, neurodegenerative diseases
Sponsorship
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.
Funder references
Wellcome Trust (101876/Z/13/Z)
Wellcome Trust (101876/B/13/A)
Identifiers
External DOI: https://doi.org/10.3389/fnins.2018.00682
This record's URL: https://www.repository.cam.ac.uk/handle/1810/286211
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