SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy.
Journal
Parkinsonism & related disorders
ISSN: 1873-5126
Titre abrégé: Parkinsonism Relat Disord
Pays: England
ID NLM: 9513583
Informations de publication
Date de publication:
05 2020
05 2020
Historique:
received:
22
10
2019
revised:
14
03
2020
accepted:
22
03
2020
pubmed:
8
4
2020
medline:
13
4
2021
entrez:
8
4
2020
Statut:
ppublish
Résumé
Mutations in the gene encoding the mitochondrial carrier protein SLC25A46 are known to cause optic atrophy associated with peripheral neuropathy and congenital pontocerebellar hypoplasia. We found novel biallelic SLC25A46 mutations (p.H137R, p.A401Sfs*17) in a patient with Parkinson's disease and optic atrophy. Screening of six unrelated patients with parkinsonism and optic atrophy allowed us to identify two additional mutations (p.A176V, p.K256R) in a second patient. All identified variants are predicted likely pathogenic and affect very conserved protein residues. These findings suggest for the first time a possible link between Parkinson's Disease and SLC25A46 mutations. Replication in additional studies is needed to conclusively prove this link.
Identifiants
pubmed: 32259769
pii: S1353-8020(20)30074-2
doi: 10.1016/j.parkreldis.2020.03.018
pii:
doi:
Substances chimiques
Mitochondrial Proteins
0
Phosphate Transport Proteins
0
SLC25A46 protein, human
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1-5Informations de copyright
Copyright © 2020 Elsevier Ltd. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of competing interest The authors report no conflict of interest related to this work.