Mutation analysis of Parkin, PINK1 and DJ-1 genes in Chinese patients with sporadic early onset parkinsonism

Guo, Jiawei; Zhang, Xue Wei; Nie, Li Luo; Zhang, Hai nan; Liao, Bing; Li, Jing; Wang, Lei; Yan, Xin; Tang, Bei

doi:10.1007/s00415-010-5485-8

Cited by 46 publications

(48 citation statements)

References 21 publications

(69 reference statements)

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“…Among the changes identified, PARKIN was the most frequently mutated, harboring four copy number alterations located in exons 3, 4, 5 and 6. Exon 4 was the most affected region, accounting for 50% of the total mutations in PARKIN, corroborating the data present in the literature [12,13,23,27].…”

Section: Discussionsupporting

confidence: 80%

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

et al. 2012

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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.

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Section: Discussionsupporting

confidence: 80%

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

et al. 2012

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“…Four genes, Parkin, PINK1, DJ-1 and ATP13A2 are among the 13 loci which have been identified as being responsible for autosomal recessive early-onset Parkinsonism (AREP). Tang [3] at Xiangya Hospital in Changsha performed mutation analysis of these 4 genes in Chinese PD patients with AREP. They studied the prevalence of mutations in these 4 genes in 29 Chinese unrelated families with AREP, using direct sequencing analysis and real-time quantitative PCR analysis assay.…”

Section: Genetic Mutationsmentioning

confidence: 99%

Recent progress in neurodegenerative disorder research in China

Zhou

2010

Sci. China Life Sci.

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Neurodegenerative disorders, including Alzheimer's disease (AD) and Parkinson's disease (PD), are common disorders of the central nervous system among aging populations. In the last 10 years insights concerning the etiology, diagnosis and pathogenesis of these diseases have come from research carried out by Chinese neuroscientists. Their findings include the description of Chinese patients with autosomal recessive early-onset PD, the function of the tau protein, molecular mechanisms underlying protein aggregation, and the identification of biomarkers for AD diagnosis and molecules/compounds with potential neuroprotective activities.

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“…It is likely that the deletion results from an unequal crossing-over between these two sequences. Further heterozygous deletions involving exons 1, 3-8 and exon 7 have been described in familial or sporadic cases of early-onset PD [72,93,94].…”

Section: Pink1mentioning

confidence: 99%

“…Further heterozygous CNVs (both deletions and duplication) involving the exons of DJ-1 gene have been published so far [93,[100][101][102], although they do not completely explain the recessive pattern of the PD phenotype.…”

Section: Dj1mentioning

confidence: 99%

Genetics of Parkinson’s Disease: The Role of Copy Number Variations

Cognata¹,

D’Agata²,

Cavalcanti³

et al. 2016

Challenges in Parkinson's Disease

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Parkinson's disease (PD), the second most common progressive neurodegenerative disorder, was long believed to be a non-genetic sporadic origin syndrome. The identification of distinct genetic loci responsible for rare Mendelian forms of PD has represented a revolutionary breakthrough, allowing to discover novel mechanisms underlying this debilitating still incurable condition. Along with single-nucleotide polymorphisms (SNPs), other kinds of DNA molecular defects have emerged as significant disease-causing mutations, including large chromosomic structural rearrangements and copy number variations (CNVs). Due to their size variability and to the different sensitivity and resolution of detection methodologies, CNVs constitute a particular challenge in genetic studies and the pathogenetic or susceptibility impact of specific CNVs on PD is currently under debate. In this chapter, we will review the current literature and bioinformatic data describing the involvement of CNVs on PD pathobiology. We will discuss the recently highlighted role of PARK2 heterozygous CNVs, the possible common founder effects of PD gene rearrangements and the importance to map genetic breakpoints. We will also add a summary about the current available molecular methods and bioinformatics web resources to detect and interpret CNVs. Assessing the global genome-wide burden of large CNVs and elucidating the role of de novo rare structural variants on PD may reveal new candidate genes and consequently ameliorate diagnosis and counselling of mutations carriers.

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Mutation analysis of Parkin, PINK1 and DJ-1 genes in Chinese patients with sporadic early onset parkinsonism

Cited by 46 publications

References 21 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

Recent progress in neurodegenerative disorder research in China

Genetics of Parkinson’s Disease: The Role of Copy Number Variations

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