Environmental and Genetic Variables Influencing Mitochondrial Health and Parkinson’s Disease Penetrance
Joint Authors
Pramstaller, Peter P.
Hicks, Andrew A.
Zanon, Alessandra
Pichler, Irene
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-03-07
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
There is strong evidence that impairment of mitochondrial function plays a key role in the pathogenesis of PD.
The two key PD genes related to mitochondrial function are Parkin (PARK2) and PINK1 (PARK6), and also mutations in several other PD genes, including SNCA, LRRK2, DJ1, CHCHD2, and POLG, have been shown to induce mitochondrial stress.
Many mutations are clearly pathogenic in some patients while carriers of other mutations either do not develop the disease or show a delayed onset, a phenomenon known as reduced penetrance.
Indeed, for several mutations in autosomal dominant PD genes, penetrance is markedly reduced, whereas heterozygous carriers of recessive mutations may predispose to PD in a dominant manner, although with highly reduced penetrance, if additional disease modifiers are present.
The identification and validation of such modifiers leading to reduced penetrance or increased susceptibility in the case of heterozygous carriers of recessive mutations are relevant for a better understanding of mechanisms contributing to disease onset.
We discuss genetic and environmental factors as well as mitochondrial DNA alterations and protein-protein interactions, all involved in mitochondrial function, as potential causes to modify penetrance of mutations in dominant PD genes and to determine manifestation of heterozygous mutations in recessive PD genes.
American Psychological Association (APA)
Zanon, Alessandra& Pramstaller, Peter P.& Hicks, Andrew A.& Pichler, Irene. 2018. Environmental and Genetic Variables Influencing Mitochondrial Health and Parkinson’s Disease Penetrance. Parkinson’s Disease،Vol. 2018, no. 2018, pp.1-8.
https://search.emarefa.net/detail/BIM-1212490
Modern Language Association (MLA)
Zanon, Alessandra…[et al.]. Environmental and Genetic Variables Influencing Mitochondrial Health and Parkinson’s Disease Penetrance. Parkinson’s Disease No. 2018 (2018), pp.1-8.
https://search.emarefa.net/detail/BIM-1212490
American Medical Association (AMA)
Zanon, Alessandra& Pramstaller, Peter P.& Hicks, Andrew A.& Pichler, Irene. Environmental and Genetic Variables Influencing Mitochondrial Health and Parkinson’s Disease Penetrance. Parkinson’s Disease. 2018. Vol. 2018, no. 2018, pp.1-8.
https://search.emarefa.net/detail/BIM-1212490
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1212490