Parkinson's disease induced pluripotent stem cells with triplication of the alpha-synuclein locus

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F67985904%3A_____%2F11%3A00372171" target="_blank" >RIV/67985904:_____/11:00372171 - isvavai.cz</a>

Výsledek na webu

<a href="http://dx.doi.org/10.1038/ncomms1453" target="_blank" >http://dx.doi.org/10.1038/ncomms1453</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1038/ncomms1453" target="_blank" >10.1038/ncomms1453</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Parkinson's disease induced pluripotent stem cells with triplication of the alpha-synuclein locus

Popis výsledku v původním jazyce

A major barrier to research on Parkinson's disease is inaccessibility of diseased tissue for study. One solution is to derive induced pluripotent stem cells from patients and differentiate them into neurons affected by disease. Triplication of SNCA, encoding alpha-synuclein, causes a fully penetrant, aggressive form of Parkinson's disease with dementia. alpha-Synuclein dysfunction is the critical pathogenic event in Parkinson's disease, multiple system atrophy and dementia with Lewy bodies. Here we produce multiple induced pluripotent stem cell lines from an SNCA triplication patient and an unaffected first-degree relative. When these cells are differentiated into midbrain dopaminergic neurons, those from the patient produce double the amount of alpha-synuclein protein as neurons from the unaffected relative, precisely recapitulating the cause of Parkinson's disease in these individuals.

Název v anglickém jazyce

Parkinson's disease induced pluripotent stem cells with triplication of the alpha-synuclein locus

Popis výsledku anglicky

A major barrier to research on Parkinson's disease is inaccessibility of diseased tissue for study. One solution is to derive induced pluripotent stem cells from patients and differentiate them into neurons affected by disease. Triplication of SNCA, encoding alpha-synuclein, causes a fully penetrant, aggressive form of Parkinson's disease with dementia. alpha-Synuclein dysfunction is the critical pathogenic event in Parkinson's disease, multiple system atrophy and dementia with Lewy bodies. Here we produce multiple induced pluripotent stem cell lines from an SNCA triplication patient and an unaffected first-degree relative. When these cells are differentiated into midbrain dopaminergic neurons, those from the patient produce double the amount of alpha-synuclein protein as neurons from the unaffected relative, precisely recapitulating the cause of Parkinson's disease in these individuals.

Druh

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

CEP obor

FH - Neurologie, neurochirurgie, neurovědy

OECD FORD obor

—

Projekt

—

Návaznosti

Z - Vyzkumny zamer (s odkazem do CEZ)

Rok uplatnění

2011

Kód důvěrnosti údajů

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

Název periodika

Nature Communications

ISSN

2041-1723

e-ISSN

—

Svazek periodika

2

Číslo periodika v rámci svazku

440

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

10

Strana od-do

1-1

Kód UT WoS článku

000294806500033

EID výsledku v databázi Scopus

—