✦ LIBER ✦

The PLA2G6 gene in early-onset Parkinson's disease

✍ Scribed by Kai Michael Kauther; Christine Höft; Ida Rissling; Wolfgang H. Oertel; Jens Carsten Möller

Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 313 KB
Volume: 26
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.23851

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Background:

The definite etiology of neurodegenerative disorders such as Parkinson's disease (PD) is still unknown. Because of its role in the generation of reactive oxygen species and its association with neurodegeneration with brain iron accumulation, a possible involvement of calcium‐independent group VI phospholipase A~2~ (iPLA~2~‐VI) in the pathogenesis of PD has been proposed.

Methods:

In this study we analyzed all 17 exons of the PLA2G6 gene encoding iPLA~2~‐VI in a group of 102 discordant pairs with early‐onset Parkinson's disease (EOPD) and an additional sample of 166 EOPD patients and 155 unrelated controls.

Results:

The nonsynonymous single‐nucleotide polymorphisms (SNPs) 2339A>G (n = 2) and 2341G>A (n = 1) in 2 neighboring codons were found in 3 patients with typical L‐dopa‐responsive sporadic EOPD and in none of our controls, indicating a possible role of PLA2G6 in the pathogenesis of EOPD in rare cases.

Conclusions:

Future studies should investigate the prevalence of these SNPs in other PD populations and larger control groups and also address possible genetic alterations in the remaining parts of the PLA2G6 gene. © 2011 Movement Disorder Society

📜 SIMILAR VOLUMES

PLA2G6 mutations and Parkinson's disease

✍ E. K. Tan; P. Ho; L. Tan; K. M. Prakash; Y. Zhao 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 108 KB 👁 1 views

interventions for fatigue, which supports the conclusions of Castori et al.

PLA2G6 mutations in PARK14-linked young-

PLA2G6 mutations in PARK14-linked young-onset parkinsonism and sporadic Parkinson's disease

✍ Chin-Song Lu; Szu-Chia Lai; Ruey-Meei Wu; Yi-Hsin Weng; Chia-Ling Huang; Rou-Sha 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 458 KB 👁 2 views

## Abstract Mutations of __PLA2G6__ gene have been lately proposed to be the causative gene for PARK14 in patients with autosomal recessive young‐onset parkinsonism (YOPD). The role of __PLA2G6__ mutations as a risk factor for Parkinson's disease is not clear. To study the __PLA2G6__ mutations in P

GCH1 in early-onset Parkinson's disease

✍ Stephanie A. Cobb; Christian Wider; Owen A. Ross; Ignacio F. Mata; Charles H. Ad 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 95 KB

## Abstract Mutations in __GTP‐cyclohydrolase 1__ (__GCH1__) cause autosomal dominant dopa‐responsive dystonia (DRD), characterized by childhood‐onset foot dystonia that later generalizes. DRD patients frequently present with associated Parkinsonism. Conversely, early‐onset Parkinson's disease (EOP

Recurrent LRRK2 (Park8) mutations in ear

Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease

✍ Katja Hedrich; Susen Winkler; Johann Hagenah; Kemal Kabakci; Meike Kasten; Eberh 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 95 KB 👁 1 views

## Abstract Mutations in __LRRK2__ (__leucine‐rich repeat kinase 2__) have been associated with autosomal dominant Parkinson's disease (PD) and cluster in several 3′ exons of the gene. The majority of mutations have been detected in late‐onset cases (age at onset >50 years). We screened 5 of the 51

PINK1 mutations in sporadic early-onset

PINK1 mutations in sporadic early-onset Parkinson's disease

✍ Eng-King Tan; Kenneth Yew; Eva Chua; K. Puvan; Hui Shen; Esther Lee; Kim-Yoong P 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 347 KB 👁 1 views

## Abstract Pathogenic __PINK1__ mutations have been described in PARK6‐linked Parkinson's disease (PD) patients of Asian origin. However, data on the frequency of __PINK1__ mutations in sporadic early‐onset Parkinson's disease (EOPD) Asian patients are lacking. The objectives of this study were to

ATP13A2 variants in early-onset Parkinso

ATP13A2 variants in early-onset Parkinson's disease patients and controls

✍ Ana Djarmati; Johann Hagenah; Kathrin Reetz; Susen Winkler; Maria Isabel Behrens 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 259 KB 👁 1 views

## Abstract Four genes responsible for recessively inherited forms of Parkinson's disease (PD) have been identified, including the recently discovered __ATP13A2__ (__PARK9__) gene. Our objective was to investigate the role of this gene in a large cohort of PD patients and controls. We extensively s