Clinicogenetic study of
            <i>PINK1</i>
            mutations in autosomal recessive early-onset parkinsonism

Li, Y.; Tomiyama, Hiroyuki; Sato, Katsuya; Hatano, Yasuko; Yoshino, Hideaki; Atsumi, Masahiko; Kitaguchi, Mayumi; Sasaki, Shoichi; Kawaguchi, Satoshi; Miyajima, Hiroaki; Toda, Tatsushi; Mizuno, Yoshikuni; Hattori, Nobutaka

doi:10.1212/01.wnl.0000164009.36740.4e

Cited by 133 publications

(117 citation statements)

References 10 publications

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“…Other studies that screened PD patients (most often with early onset) from different populations reported PINK mutations in 0.5 to 9% of cases [232][233][234][235][236]. Thus, PINK1 mutations seem to be more rare compared to Parkin mutations.…”

Section: Pink1 (Park6)mentioning

confidence: 97%

Epidemiology and etiology of Parkinson’s disease: a review of the evidence

et al. 2011

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Section: Pink1 (Park6)mentioning

confidence: 97%

Epidemiology and etiology of Parkinson’s disease: a review of the evidence

et al. 2011

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“…Among the three genes linked to the autosomal recessive early onset familial form of PD, mutations in PINK1 appear to be the second-most-common genetic cause in autosomal recessive PD (after parkin), found in 8-15% early onset PD cases (4,10,11). Heterozygous mutations of PINK1 were also detected in sporadic PD cases (11,12).…”

mentioning

confidence: 99%

Antioxidants protect PINK1 -dependent dopaminergic neurons in Drosophila

Wang

Xiong

et al. 2006

Proc. Natl. Acad. Sci. U.S.A.

185

140

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Parkinson's disease (PD) is the most frequent neurodegenerative movement disorder. Mutations in the PINK1 gene are linked to the autosomal recessive early onset familial form of PD. The physiological function of PINK1 and pathological abnormality of PDassociated PINK1 mutants are largely unknown. We here show that inactivation of Drosophila PINK1 (dPINK1) using RNAi results in progressive loss of dopaminergic neurons and in ommatidial degeneration of the compound eye, which is rescued by expression of human PINK1 (hPINK1). Expression of human SOD1 suppresses neurodegeneration induced by dPINK1 inactivation. Moreover, treatment of dPINK1 RNAi flies with the antioxidants SOD and vitamin E significantly inhibits ommatidial degeneration. Thus, dPINK1 plays an essential role in maintaining neuronal survival by preventing neurons from undergoing oxidative stress, thereby suggesting a potential mechanism by which a reduction in PINK1 function leads to PD-associated neurodegeneration.neurodegeneration ͉ oxidative stress ͉ Parkinson's disease ͉ SOD1

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“…Homozygous deletions involving different combination of exons 4-8 have been described in both familial and sporadic early-onset cases coming from Japan, Brazil, Sudan and Iran [38,[88][89][90][91]. Just in one of them, breakpoint analysis has been performed, revealing a complex rearrangement combining a large deletion and the insertion of a duplicated sequence from the neighbouring DDOST gene intron 2 [91].…”

Section: Pink1mentioning

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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Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism

Cited by 133 publications

References 10 publications

Epidemiology and etiology of Parkinson’s disease: a review of the evidence

Epidemiology and etiology of Parkinson’s disease: a review of the evidence

Antioxidants protect PINK1 -dependent dopaminergic neurons in Drosophila

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

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