Parkin (PARK 2) Mutations Are Rare in Czech Patients with Early-Onset Parkinson's Disease

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F14%3A10279689" target="_blank" >RIV/00216208:11110/14:10279689 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064165:_____/14:10279689

Výsledek na webu

<a href="http://dx.doi.org/10.1371/journal.pone.0107585" target="_blank" >http://dx.doi.org/10.1371/journal.pone.0107585</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1371/journal.pone.0107585" target="_blank" >10.1371/journal.pone.0107585</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Parkin (PARK 2) Mutations Are Rare in Czech Patients with Early-Onset Parkinson's Disease

Popis výsledku v původním jazyce

Objective: The aim of the study is to determine the frequency of parkin allelic variants in Czech early-onset Parkinson's disease patients and healthy controls. Methods: A total of 70 early-onset Parkinson's disease patients (age at onset #40 years) and75 controls were screened for the sequence variants and exon rearrangements in the parkin gene. Results: Parkin mutations were identified in five patients (7.1%): the p.R334C point mutation was present in one patient, four patients had exon deletions. The detected mutations were observed in the heterozygous state except one homozygous deletion of the exon 4. No mutations were obtained in control subjects. A novel sequence variant p.V380I (c.1138G.A) was identified in one control. Non-pathogenic polymorphisms p.S167N and p.D394N were seen in similar percentage in patients and controls, polymorphism p.V380L was almost twice as frequent in controls as in patients. Conclusions: Our study contributes to the growing body of evidence on the lo

Název v anglickém jazyce

Parkin (PARK 2) Mutations Are Rare in Czech Patients with Early-Onset Parkinson's Disease

Popis výsledku anglicky

Objective: The aim of the study is to determine the frequency of parkin allelic variants in Czech early-onset Parkinson's disease patients and healthy controls. Methods: A total of 70 early-onset Parkinson's disease patients (age at onset #40 years) and75 controls were screened for the sequence variants and exon rearrangements in the parkin gene. Results: Parkin mutations were identified in five patients (7.1%): the p.R334C point mutation was present in one patient, four patients had exon deletions. The detected mutations were observed in the heterozygous state except one homozygous deletion of the exon 4. No mutations were obtained in control subjects. A novel sequence variant p.V380I (c.1138G.A) was identified in one control. Non-pathogenic polymorphisms p.S167N and p.D394N were seen in similar percentage in patients and controls, polymorphism p.V380L was almost twice as frequent in controls as in patients. Conclusions: Our study contributes to the growing body of evidence on the lo

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FH - Neurologie, neurochirurgie, neurovědy

OECD FORD obor

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Projekt

<a href="/cs/project/NT11331" target="_blank" >NT11331: Molekulární patologie a genetická diagnostika Parkinsonovy nemoci</a><br>

Návaznosti

S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2014

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

PLoS ONE

ISSN

1932-6203

e-ISSN

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Svazek periodika

9

Číslo periodika v rámci svazku

9

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

6

Strana od-do

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Kód UT WoS článku

000342491600032

EID výsledku v databázi Scopus

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