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Screening PARK genes for mutations in early-onset Parkinson's disease patients from Queensland, Australia.
Parkinsonism Relat Disord. 2009 Feb; 15(2):105-9.PR

Abstract

A family history of Parkinson's disease (PD) is the most commonly reported risk factor after age, suggesting a genetic component to the disease in a sub-group of patients. Mutations in at least six genes have been identified that can lead to monogenic forms of PD. We screened a sample of 74 early-onset PD cases out of a cohort of 950 patients (onset <50 years) for genetic abnormalities in known familial Parkinsonism genes. A self-reported family history of PD existed for 30 patients (40.5%). Of these, 13 each had a first- or a second-degree relative with PD and four reported a more distant relative with PD. The entire coding region of the PRKN (MIM 602544), DJ-1 (MIM 602533) and PINK1 (MIM 698309) genes, and exon 41 of the LRRK2 gene (MIM 609007) were screened by direct sequencing. All exons of PRKN were examined for gene-dosage abnormalities. Screening identified five patients with putative genetic disease: two patients carried PRKN mutations (p.G12R heterozygous and p.G430D homozygous), one patient carried a p.G411S heterozygous amino acid change in the PINK1 gene and two individuals were heterozygous for the common p.G2019S mutation in LRRK2. No alpha-synuclein or DJ-1 variants were observed. Our data suggest that approximately 7% of early-onset PD cases seen in Queensland movement disorders clinics have mutations involving known PARK genes.

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Authors+Show Affiliations

Mellick GD
Eskitis Institute for Cellular and Molecular Therapies, Griffith University, Nathan, Qld 4111, Australia. G.Mellick@griffith.edu.au
Siebert GA
No affiliation info available
Funayama M
No affiliation info available
Buchanan DD
No affiliation info available
Li Y
No affiliation info available
Imamichi Y
No affiliation info available
Yoshino H
No affiliation info available
Silburn PA
No affiliation info available
Hattori N
No affiliation info available

MeSH

AdultAge of OnsetAgedDNA Mutational AnalysisExonsFemaleGenetic TestingHumansIntracellular Signaling Peptides and ProteinsLeucine-Rich Repeat Serine-Threonine Protein Kinase-2MaleMiddle AgedMutationOncogene ProteinsParkinson DiseaseProtein Deglycase DJ-1Protein KinasesProtein-Serine-Threonine KinasesQueenslandUbiquitin-Protein Ligases

Pub Type(s)

Journal Article

Language

eng

PubMed ID

18486522

Citation

Mellick, George D., et al. "Screening PARK Genes for Mutations in Early-onset Parkinson's Disease Patients From Queensland, Australia." Parkinsonism & Related Disorders, vol. 15, no. 2, 2009, pp. 105-9.
Mellick GD, Siebert GA, Funayama M, et al. Screening PARK genes for mutations in early-onset Parkinson's disease patients from Queensland, Australia. Parkinsonism Relat Disord. 2009;15(2):105-9.
Mellick, G. D., Siebert, G. A., Funayama, M., Buchanan, D. D., Li, Y., Imamichi, Y., Yoshino, H., Silburn, P. A., & Hattori, N. (2009). Screening PARK genes for mutations in early-onset Parkinson's disease patients from Queensland, Australia. Parkinsonism & Related Disorders, 15(2), 105-9. https://doi.org/10.1016/j.parkreldis.2007.11.016
Mellick GD, et al. Screening PARK Genes for Mutations in Early-onset Parkinson's Disease Patients From Queensland, Australia. Parkinsonism Relat Disord. 2009;15(2):105-9. PubMed PMID: 18486522.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Screening PARK genes for mutations in early-onset Parkinson's disease patients from Queensland, Australia. AU - Mellick,George D, AU - Siebert,Gerhard A, AU - Funayama,Manabu, AU - Buchanan,Daniel D, AU - Li,Yuanzhe, AU - Imamichi,Yoko, AU - Yoshino,Hiroyo, AU - Silburn,Peter A, AU - Hattori,Nobutaka, Y1 - 2008/05/19/ PY - 2007/09/12/received PY - 2007/11/08/revised PY - 2007/11/19/accepted PY - 2008/5/20/pubmed PY - 2009/3/27/medline PY - 2008/5/20/entrez SP - 105 EP - 9 JF - Parkinsonism & related disorders JO - Parkinsonism Relat Disord VL - 15 IS - 2 N2 - A family history of Parkinson's disease (PD) is the most commonly reported risk factor after age, suggesting a genetic component to the disease in a sub-group of patients. Mutations in at least six genes have been identified that can lead to monogenic forms of PD. We screened a sample of 74 early-onset PD cases out of a cohort of 950 patients (onset <50 years) for genetic abnormalities in known familial Parkinsonism genes. A self-reported family history of PD existed for 30 patients (40.5%). Of these, 13 each had a first- or a second-degree relative with PD and four reported a more distant relative with PD. The entire coding region of the PRKN (MIM 602544), DJ-1 (MIM 602533) and PINK1 (MIM 698309) genes, and exon 41 of the LRRK2 gene (MIM 609007) were screened by direct sequencing. All exons of PRKN were examined for gene-dosage abnormalities. Screening identified five patients with putative genetic disease: two patients carried PRKN mutations (p.G12R heterozygous and p.G430D homozygous), one patient carried a p.G411S heterozygous amino acid change in the PINK1 gene and two individuals were heterozygous for the common p.G2019S mutation in LRRK2. No alpha-synuclein or DJ-1 variants were observed. Our data suggest that approximately 7% of early-onset PD cases seen in Queensland movement disorders clinics have mutations involving known PARK genes. SN - 1353-8020 UR - https://www.unboundmedicine.com/medline/citation/18486522/Screening_PARK_genes_for_mutations_in_early_onset_Parkinson's_disease_patients_from_Queensland_Australia_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1353-8020(08)00108-9 DB - PRIME DP - Unbound Medicine ER -