Parkinson disease from Mendelian forms to genetic susceptibility: new molecular insights into the neurodegeneration process
Parkinson disease from Mendelian forms to genetic susceptibility: new molecular insights into the neurodegeneration process
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.
Autophagy, GWAS meta-analysis, Mitochondrial dysfunction, Neurodegeneration, Oxidative stress, Parkinson disease
1-26
Karimi-Moghadam, Amin
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Charsouei, Saeid
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Bell, Benjamin
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Jabalameli, Mohammad Reza
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Karimi-Moghadam, Amin
cf5a9e91-4083-4939-849c-ac875e970eb9
Charsouei, Saeid
3e1989a0-e807-42a3-85c5-93cebb82636b
Bell, Benjamin
756e57e3-bcf7-43d9-8b0b-48ac323954d6
Jabalameli, Mohammad Reza
d533e702-7a6b-4f2d-8947-352ea1dd769b
Karimi-Moghadam, Amin, Charsouei, Saeid, Bell, Benjamin and Jabalameli, Mohammad Reza
(2018)
Parkinson disease from Mendelian forms to genetic susceptibility: new molecular insights into the neurodegeneration process.
Cellular and Molecular Neurobiology, .
(doi:10.1007/s10571-018-0587-4).
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.
Text
10.1007%2Fs10571-018-0587-4
- Version of Record
More information
Accepted/In Press date: 20 April 2018
e-pub ahead of print date: 26 April 2018
Keywords:
Autophagy, GWAS meta-analysis, Mitochondrial dysfunction, Neurodegeneration, Oxidative stress, Parkinson disease
Identifiers
Local EPrints ID: 420487
URI: http://eprints.soton.ac.uk/id/eprint/420487
ISSN: 0272-4340
PURE UUID: 134c056c-3140-40d1-b20c-6e0b4a41d781
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Date deposited: 09 May 2018 16:30
Last modified: 15 Mar 2024 19:50
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Author:
Amin Karimi-Moghadam
Author:
Saeid Charsouei
Author:
Benjamin Bell
Author:
Mohammad Reza Jabalameli
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