Cellular alterations identified in pluripotent stem cell-derived midbrain spheroids generated from a female patient with progressive external ophthalmoplegia and parkinsonism who carries a novel variation (p.Q811R) in the POLG1 gene.
Alpha-synuclein
Glycolysis
MAO-B
Midbrain spheroids
POLG1
Parkinson’s disease
Proteomics
iPSCs
Journal
Acta neuropathologica communications
ISSN: 2051-5960
Titre abrégé: Acta Neuropathol Commun
Pays: England
ID NLM: 101610673
Informations de publication
Date de publication:
16 12 2019
16 12 2019
Historique:
received:
26
10
2019
accepted:
02
12
2019
entrez:
18
12
2019
pubmed:
18
12
2019
medline:
26
9
2020
Statut:
epublish
Résumé
Variations in the POLG1 gene encoding the catalytic subunit of the mitochondrial DNA polymerase gamma, have recently been associated with Parkinson's disease (PD), especially in patients diagnosed with progressive external ophthalmoplegia (PEO). However, the majority of the studies reporting this association mainly focused on the genetic identification of the variation in POLG1 in PD patient primary cells, and determination of mitochondrial DNA copy number, providing little information about the cellular alterations existing in patient brain cells, in particular dopaminergic neurons. Therefore, through the use of induced pluripotent stem cells (iPSCs), we assessed cellular alterations in novel p.Q811R POLG1 (POLG1
Identifiants
pubmed: 31843010
doi: 10.1186/s40478-019-0863-7
pii: 10.1186/s40478-019-0863-7
pmc: PMC6916051
doi:
Substances chimiques
DNA Polymerase gamma
EC 2.7.7.7
POLG protein, human
EC 2.7.7.7
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
208Subventions
Organisme : Vetenskapsrådet
ID : VR-2015-03684
Pays : International
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