Back to Search
Start Over
Parkinson Disease from Mendelian Forms to Genetic Susceptibility: New Molecular Insights into the Neurodegeneration Process
- Source :
- Cellular and Molecular Neurobiology
- Publication Year :
- 2018
- Publisher :
- Springer US, 2018.
-
Abstract
- Parkinson disease (PD) is known as a common progressive neurodegenerative disease which is clinically diagnosed by the manifestation of numerous motor and nonmotor symptoms. PD is a genetically heterogeneous disorder with both familial and sporadic forms. To date, researches in the field of Parkinsonism have identified 23 genes or loci linked to rare monogenic familial forms of PD with Mendelian inheritance. Biochemical studies revealed that the products of these genes usually play key roles in the proper protein and mitochondrial quality control processes, as well as synaptic transmission and vesicular recycling pathways within neurons. Despite this, large number of patients affected with PD typically tends to show sporadic forms of disease with lack of a clear family history. Recent genome-wide association studies (GWAS) meta-analyses on the large sporadic PD case–control samples from European populations have identified over 12 genetic risk factors. However, the genetic etiology that underlies pathogenesis of PD is also discussed, since it remains unidentified in 40% of all PD-affected cases. Nowadays, with the emergence of new genetic techniques, international PD genomics consortiums and public online resources such as PDGene, there are many hopes that future large-scale genetics projects provide further insights into the genetic etiology of PD and improve diagnostic accuracy and therapeutic clinical trial designs.
- Subjects :
- 0301 basic medicine
Genome-wide association study
Disease
Biology
03 medical and health sciences
Cellular and Molecular Neuroscience
symbols.namesake
0302 clinical medicine
medicine
Genetic predisposition
Autophagy
Animals
Humans
Genetic Predisposition to Disease
Neurodegeneration
Genetic association
Genetics
Review Paper
Genetic heterogeneity
Parkinsonism
Parkinson Disease
Cell Biology
General Medicine
medicine.disease
Mitochondria
030104 developmental biology
GWAS meta-analysis
Oxidative stress
Mutation
Mendelian inheritance
symbols
Mitochondrial dysfunction
030217 neurology & neurosurgery
Genome-Wide Association Study
Subjects
Details
- Language :
- English
- ISSN :
- 15736830 and 02724340
- Volume :
- 38
- Issue :
- 6
- Database :
- OpenAIRE
- Journal :
- Cellular and Molecular Neurobiology
- Accession number :
- edsair.doi.dedup.....d8037433b44769e0b87158fec800e8a3