Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease

Choi, Jung Mi; Woo, Myoung Soo; Ma, Hyeo-Il; Kang, Suk Yun; Sung, Young Hee; Yong, Seok Woo; Chung, Sun Ju; Kim, Joong‐Seok; Shin, Hae Won; Lyoo, Chul Hyoung; Lee, Phil Hyu; Baik, Jong Sam; Kim, Sang Jin; Park, Mee Young; Kim, Jin Ho; Kim, Jae Woo; Lee, Myung Sik; Lee, Myoung Chong; Kim, Dong Hyun; Kim, Yun Joong

doi:10.1007/s10048-008-0138-0

Cited by 94 publications

(82 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In conclusion, dosage mutations are relatively common in Brazilian early onset PD patients. The frequency observed by our study was similar to others from the literature [6,13,16]. PARKIN presented the majority of dosage alterations compared with the other known PD genes, as expected, while PINK1, SNCA and DJ-1 exon rearrangements were less common.…”

Section: Discussionsupporting

confidence: 79%

“…We identified a heterozygous deletion in exon 4 of PARKIN gene in one patient who has a juvenile AAO of 12 years and no family history of the disease. This alteration had already been reported by other groups in PD patients and healthy individuals [3,6,15,22]. Kay and colleagues (2010) demonstrated that heterozygous dosage mutations in exons 2-4 are common and well-tolerated in control subjects [15].…”

Section: Discussionmentioning

confidence: 81%

See 1 more Smart Citation

Exon Dosage Variations in Brazilian Patients with Parkinson’s Disease: Analysis ofSNCA,PARKIN,PINK1andDJ-1Genes

et al. 2012

View full text Add to dashboard Cite

Abstract.Parkinson's disease is one of the most common neurodegenerative disorders associated with aging, reaching ∼ 2% of individuals over 65 years. Knowledge achieved in the last decade about the genetic basis of Parkinson's disease clearly shows that genetic factors play an important role in the etiology of this disorder. Exon dosage variations account for a high proportion of Parkinson's disease mutations, mainly for PARKIN gene. In the present study, we screened genomic rearrangements in SNCA, PARKIN, PINK1 and DJ-1 genes in 102 Brazilian Parkinson's disease patients with early onset (age of onset 50 years), using the multiplex ligation-dependent probe amplification method. Family history was reported by 24 patients, while 78 were sporadic cases. Screening of exon dosage revealed PARKIN and PINK1 copy number variations, but no dosage alteration was found in SNCA and DJ-1 genes. Most of the carriers harbor heterozygous deletions or duplications in the PARKIN gene and only one patient was found to have a deletion in PINK1 exon 1. Data about dosage changes are scarce in the Brazilian population, which stresses the importance of including exon dosage analysis in Parkinson's disease genetic studies.

show abstract

Section: Discussionsupporting

confidence: 79%

Section: Discussionmentioning

confidence: 81%

Exon Dosage Variations in Brazilian Patients with Parkinson’s Disease: Analysis ofSNCA,PARKIN,PINK1andDJ-1Genes

et al. 2012

View full text Add to dashboard Cite

show abstract

“…Out of the three missense mutations, the first identified, p.A53T, seems to be by far the most frequent one and was found in one Italian, eight Greek, two Korean, and one Swedish family (Polymeropoulos et al 1997;Athanassiadou et al 1999;Spira et al 2001;Ki et al 2007;Choi et al 2008;Puschmann et al 2009). The p.A30P and p.E46K mutations were identified in one family each (Kruger et al 1998;Zarranz et al 2004).…”

Section: Monogenic Forms Of Pdmentioning

confidence: 99%

Genetics of Parkinson's Disease

Klein

Westenberger

2012

Cold Spring Harbor Perspectives in Medicine

1,088

780

View full text Add to dashboard Cite

Fifteen years of genetic research in Parkinson's disease (PD) have led to the identification of several monogenic forms of the disorder and of numerous genetic risk factors increasing the risk to develop PD. Monogenic forms, caused by a single mutation in a dominantly or recessively inherited gene, are well-established, albeit relatively rare types of PD. They collectively account for about 30% of the familial and 3%-5% of the sporadic cases. In this article, we will summarize the current knowledge and understanding of the molecular genetics of PD. In brief, we will review familial forms of PD, basic genetic principles of inheritance (and their exceptions in PD), followed by current methods for the identification of PD genes and risk factors, and implications for genetic testing.

show abstract

“…The authors observed the presence of the mutation in several members of those 7 families, showing autosomal dominant inheritance pattern. Choi et al 26 identified the A53T mutation in only 1 of 72 patients with early-onset PD, whose family history was consistent with autosomal dominant PD.…”

Section: Discussionmentioning

confidence: 99%

Alpha-synuclein A53T mutation is not frequent on a sample of Brazilian Parkinson’s disease patients

Longo

Pinhel

Gregório

et al. 2015

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

Parkinson's disease (PD) is one of the major degenerative disorders, affecting 2% of the population over 65 years and up to 4% in people over 85 years 1 . In Brazil, statistics show that the incidence of PD amounts to 150/200 cases per 100,000 inhabitants 2 . Most cases of PD are idiopathic 3 . However, in approximately 5%-10% of the cases, there is a genetic component with both dominant and recessive inheritance patterns 3 . The chromosomal loci linked to the familial forms of PD are termed PARK1-13. These loci include six autosomal dominant genes [PARK 1or PARK 4 (alpha synuclein -SNCA), PARK 3 (Lewy bodies), PARK 5 (ubiquitin carboxyl-terminal esterase L1 -UCHL1), PARK 8 (leucine-rich repeat kinase 2 -LRRK2) and PARK13 (HTRA serine peptidase 2 -HTRA2)], 4 recessives genes [PARK 2 ABSTRACT Introduction:The pathogenesis of Parkinson's disease (PD) involves both genetic susceptibility and environmental factors, with focus on the mutation in the alpha-synuclein gene (SNCA). Objective: To analyse the polymorphism SNCA-A53T in patients with familial PD (FPD) and sporadic PD (SPD). Method: A total of 294 individuals were studied, regardless of sex and with mixed ethnicity. The study group with 154 patients with PD, and the control group included 140 individuals without PD. The genotyping of SNCA-A53T was performed by PCR/RFLP. Significance level was p < 0.05. Results: Among all patients, 37 (24%) had FPD and 117 (75.9%) had SPD. The absence of SNCA-A53T mutation was observed in all individuals. Conclusion: SPD is notably observed in patients. However, the SNCA-A53T mutation was absent in all individuals, which does not differ controls from patients. This fact should be confirmed in a Brazilian study case with a more numerous and older population. Keywords:Parkinson's disease, alpha-synuclein, mutation. RESUMO Introdução:A patogênese da doença de Parkinson (DP) envolve fatores ambientais e suscetibilidade genética, destacando-se a mutação de alfa-sinucleína (SNCA.) Objetivos: Analisar a variante genética SNCA-A53T em pacientes com DP familiar (DPF) e DP esporádica (DPE). Método: Foram estudados 294 indivíduos, independente de sexo, com etnia miscigenada, sendo 154 com DP e 140 sem a doença (grupo controle). A genotipagem de SNCA-A53T foi realizada por PCR/RFLP. Nível de significância para p < 0,05. Resultados: Entre os pacientes, 37(24%) tinham DPF e 117 (75,9%) DPE. A ausência da mutação SNCA-A53T em todos os indivíduos. Conclusão: DPE é destacada entre os pacientes, no entanto a mutação SNCA-A53T ausente em todos os indivíduos, não diferenciando os grupo controle e pacientes, o que deve ser confirmado em população brasileira, considerando uma ampla casuística, além da ancestralidade.Palavras-chave: doença de Parkinson, alfa sinucleína, mutação.

show abstract

Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease

Cited by 94 publications

References 29 publications

Exon Dosage Variations in Brazilian Patients with Parkinson’s Disease: Analysis ofSNCA,PARKIN,PINK1andDJ-1Genes

Exon Dosage Variations in Brazilian Patients with Parkinson’s Disease: Analysis ofSNCA,PARKIN,PINK1andDJ-1Genes

Genetics of Parkinson's Disease

Alpha-synuclein A53T mutation is not frequent on a sample of Brazilian Parkinson’s disease patients

Contact Info

Product

Resources

About