期刊
FRONTIERS IN NEUROSCIENCE
卷 12, 期 -, 页码 -出版社
FRONTIERS MEDIA SA
DOI: 10.3389/fnins.2018.00682
关键词
mtDNA; haplogroups; PD; LHON; neurodegenerative diseases
资金
- NIHR Biomedical Research Centre pilot studies (RROI.GAAB)
- Wellcome Trust [101876/Z/13/Z]
- Medical Research Council Mitochondrial Biology Unit [MC_UP_1501/2]
- Medical Research Council (United Kingdom) Centre for Translational Muscle Disease [G0601943]
- National Institute for Health Research (NIHR) Biomedical Research Centre based at Cambridge University Hospitals NHS Foundation Trust
- University of Cambridge
- Wellcome Trust [101876/Z/13/Z] Funding Source: Wellcome Trust
- MRC [G0601943, MR/K000608/1] Funding Source: UKRI
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.
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