The DOI matches its Crossref record; 64 of the 64 references it cites were found in a registry or an index.
What Genetics Tells us About the Causes and Mechanisms of Parkinson's Disease
Abstract
Parkinson's disease (PD) is a common motor disorder of mysterious etiology. It is due to the progressive degeneration of the dopaminergic neurons of the substantia nigra and is accompanied by the appearance of intraneuronal inclusions enriched in α-synuclein, the Lewy bodies. It is becoming increasingly clear that genetic factors contribute to its complex pathogenesis. Over the past decade, the genetic basis of rare PD forms with Mendelian inheritance, representing no more than 10% of the cases, has been investigated. More than 16 loci and 11 associated genes have been identified so far; genome-wide association studies have provided convincing evidence that polymorphic variants in these genes contribute to sporadic PD. The knowledge acquired of the functions of their protein products has revealed pathways of neurodegeneration that may be shared between inherited and sporadic PD. An impressive set of data in different model systems strongly suggest that mitochondrial dysfunction plays a central role in clinically similar, early-onset autosomal recessive PD forms caused by parkin and PINK1, and possibly DJ-1 gene mutations. In contrast, α-synuclein accumulation in Lewy bodies defines a spectrum of disorders ranging from typical late-onset PD to PD dementia and including sporadic and autosomal dominant PD forms due to mutations in SCNA and LRRK2. However, the pathological role of Lewy bodies remains uncertain, as they may or may not be present in PD forms with one and the same LRRK2 mutation. Impairment of autophagy-based protein/organelle degradation pathways is emerging as a possible unifying but still fragile pathogenic scenario in PD. Strengthening these discoveries and finding other convergence points by identifying new genes responsible for Mendelian forms of PD and exploring their functions and relationships are the main challenges of the next decade. It is also the way to follow to open new promising avenues of neuroprotective treatment for this devastating disorder.
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Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease
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Parkin is recruited selectively to impaired mitochondria and promotes their autophagy
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PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1
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Self-citation
Cited by
Kalia, L. V., & Lang, A. E. (2015) · The Lancet · doi:10.1016/s0140-6736(14)61393-3 · Cited by 6,184
The role of autophagy in neurodegenerative disease
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Ubiquitin is phosphorylated by PINK1 to activate parkin
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A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci
Chang, D., Nalls, M. A., Hallgrímsdóttir, I. B., Hunkapiller, J., van der Brug, M., Cai, F., International Parkinson's Disease Genomics Consortium, 23andMe Research Team, Kerchner, G. A., Ayalon, G., et al. (2017) · Nature Genetics · doi:10.1038/ng.3955 · Cited by 1,112
The genetics of Parkinson disease
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Metadata
- Authors
- Corti, O., Lesage, S., & Brice, A.
- Venue
- Physiological Reviews
- Publisher
- American Physiological Society
- Published
- 2011-10
- Volume
- 91
- Issue
- 4
- Pages
- 1161-1218
- ISSN
- 0031-9333 (ISSN-L)
- 1522-1210
- OpenAlex
- W2097777783
- Cited by
- 611
- References
- 64
- FWCI
- 5.00
- Type
- journal article
- Language
- en
- Open access
- closed
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