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Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.
Hum Mutat. 2010 Jul; 31(7):763-80.HM

Abstract

To date, molecular genetic analyses have identified over 500 distinct DNA variants in five disease genes associated with familial Parkinson disease; alpha-synuclein (SNCA), parkin (PARK2), PTEN-induced putative kinase 1 (PINK1), DJ-1 (PARK7), and Leucine-rich repeat kinase 2 (LRRK2). These genetic variants include approximately 82% simple mutations and approximately 18% copy number variations. Some mutation subtypes are likely underestimated because only few studies reported extensive mutation analyses of all five genes, by both exonic sequencing and dosage analyses. Here we present an update of all mutations published to date in the literature, systematically organized in a novel mutation database (http://www.molgen.ua.ac.be/PDmutDB). In addition, we address the biological relevance of putative pathogenic mutations. This review emphasizes the need for comprehensive genetic screening of Parkinson patients followed by an insightful study of the functional relevance of observed genetic variants. Moreover, while capturing existing data from the literature it became apparent that several of the five Parkinson genes were also contributing to the genetic etiology of other Lewy Body Diseases and Parkinson-plus syndromes, indicating that mutation screening is recommendable in these patient groups.

Authors+Show Affiliations

Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

20506312

Citation

Nuytemans, Karen, et al. "Genetic Etiology of Parkinson Disease Associated With Mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 Genes: a Mutation Update." Human Mutation, vol. 31, no. 7, 2010, pp. 763-80.
Nuytemans K, Theuns J, Cruts M, et al. Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update. Hum Mutat. 2010;31(7):763-80.
Nuytemans, K., Theuns, J., Cruts, M., & Van Broeckhoven, C. (2010). Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update. Human Mutation, 31(7), 763-80. https://doi.org/10.1002/humu.21277
Nuytemans K, et al. Genetic Etiology of Parkinson Disease Associated With Mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 Genes: a Mutation Update. Hum Mutat. 2010;31(7):763-80. PubMed PMID: 20506312.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update. AU - Nuytemans,Karen, AU - Theuns,Jessie, AU - Cruts,Marc, AU - Van Broeckhoven,Christine, PY - 2010/5/28/entrez PY - 2010/5/28/pubmed PY - 2010/10/5/medline SP - 763 EP - 80 JF - Human mutation JO - Hum Mutat VL - 31 IS - 7 N2 - To date, molecular genetic analyses have identified over 500 distinct DNA variants in five disease genes associated with familial Parkinson disease; alpha-synuclein (SNCA), parkin (PARK2), PTEN-induced putative kinase 1 (PINK1), DJ-1 (PARK7), and Leucine-rich repeat kinase 2 (LRRK2). These genetic variants include approximately 82% simple mutations and approximately 18% copy number variations. Some mutation subtypes are likely underestimated because only few studies reported extensive mutation analyses of all five genes, by both exonic sequencing and dosage analyses. Here we present an update of all mutations published to date in the literature, systematically organized in a novel mutation database (http://www.molgen.ua.ac.be/PDmutDB). In addition, we address the biological relevance of putative pathogenic mutations. This review emphasizes the need for comprehensive genetic screening of Parkinson patients followed by an insightful study of the functional relevance of observed genetic variants. Moreover, while capturing existing data from the literature it became apparent that several of the five Parkinson genes were also contributing to the genetic etiology of other Lewy Body Diseases and Parkinson-plus syndromes, indicating that mutation screening is recommendable in these patient groups. SN - 1098-1004 UR - https://www.unboundmedicine.com/medline/citation/20506312/Genetic_etiology_of_Parkinson_disease_associated_with_mutations_in_the_SNCA_PARK2_PINK1_PARK7_and_LRRK2_genes:_a_mutation_update_ L2 - https://doi.org/10.1002/humu.21277 DB - PRIME DP - Unbound Medicine ER -