Oldies but goldies mtDNA population variants and neurodegenerative diseases
- 1Clinical Neuroscience, University of Cambridge, United Kingdom
- 2Department of Clinical Neurosciences, University of Cambridge, United Kingdom
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.
Keywords: mtDNA, haplogroups, PD, LHON, Neurodegenerative Diseases
Received: 22 May 2018;
Accepted: 10 Sep 2018.
Edited by:Victor Tapias, Feil Family Brain & Mind Research Institute, Weill Cornell Medicine, United States
Reviewed by:Petr A. Slominsky, Institute of Molecular Genetics (RAS), Russia
Anat Ben-Zvi, Ben-Gurion University of the Negev, Israel
Richard G. Boles, Center for Neurological and Neurodevelopmental Health (CNNH), United States
Copyright: © 2018 GOMEZ-DURAN and Chinnery. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: PhD. AURORA GOMEZ-DURAN, University of Cambridge, Clinical Neuroscience, Adenbrookes Campus, Cambridge, CB20XY, United Kingdom, email@example.com