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Mutations in the ATP13A2 Gene and Parkinsonism : A Preliminary Review
Joint Authors
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-9, 9 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-08-13
Country of Publication
Egypt
No. of Pages
9
Main Subjects
Abstract EN
Parkinson’s disease (PD) is a major neurodegenerative disorder for which the etiology and pathogenesis remain as elusive as for Alzheimer's disease.
PD appears to be caused by genetic and environmental factors, and pedigree and cohort studies have identified numerous susceptibility genes and loci related to PD.
Autosomal recessive mutations in the genes Parkin, Pink1, DJ-1, ATP13A2, PLA2G6, and FBXO7 have been linked to PD susceptibility.
Such mutations in ATP13A2, also named PARK9, were first identified in 2006 in a Chilean family and are associated with a juvenile-onset, levodopa-responsive type of Parkinsonism called Kufor-Rakeb syndrome (KRS).
KRS involves pyramidal degeneration, supranuclear palsy, and cognitive impairment.
Here we review current knowledge about the ATP13A2 gene, clinical characteristics of patients with PD-associated ATP13A2 mutations, and models of how the ATP13A2 protein may help prevent neurodegeneration by inhibiting α-synuclein aggregation and supporting normal lysosomal and mitochondrial function.
We also discuss another ATP13A2 mutation that is associated with the family of neurodegenerative disorders called neuronal ceroid lipofuscinoses (NCLs), and we propose a single pathway whereby ATP13A2 mutations may contribute to NCLs and Parkinsonism.
Finally, we highlight how studies of mutations in this gene may provide new insights into PD pathogenesis and identify potential therapeutic targets.
American Psychological Association (APA)
Yang, Xinglong& Xu, Yanming. 2014. Mutations in the ATP13A2 Gene and Parkinsonism : A Preliminary Review. BioMed Research International،Vol. 2014, no. 2014, pp.1-9.
https://search.emarefa.net/detail/BIM-466740
Modern Language Association (MLA)
Yang, Xinglong& Xu, Yanming. Mutations in the ATP13A2 Gene and Parkinsonism : A Preliminary Review. BioMed Research International No. 2014 (2014), pp.1-9.
https://search.emarefa.net/detail/BIM-466740
American Medical Association (AMA)
Yang, Xinglong& Xu, Yanming. Mutations in the ATP13A2 Gene and Parkinsonism : A Preliminary Review. BioMed Research International. 2014. Vol. 2014, no. 2014, pp.1-9.
https://search.emarefa.net/detail/BIM-466740
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-466740