Cell-specific vulnerability to metabolic failure: the crucial role of parvalbumin expressing neurons in creatine transporter deficiency.
Creatine transporter deficiency
Energy metabolism
Neurodevelopmental disorders
Parvalbumin neurons
Synapse
Journal
Acta neuropathologica communications
ISSN: 2051-5960
Titre abrégé: Acta Neuropathol Commun
Pays: England
ID NLM: 101610673
Informations de publication
Date de publication:
07 03 2023
07 03 2023
Historique:
received:
20
12
2022
accepted:
14
02
2023
entrez:
7
3
2023
pubmed:
8
3
2023
medline:
10
3
2023
Statut:
epublish
Résumé
Mutations in the solute carrier family 6-member 8 (Slc6a8) gene, encoding the protein responsible for cellular creatine (Cr) uptake, cause Creatine Transporter Deficiency (CTD), an X-linked neurometabolic disorder presenting with intellectual disability, autistic-like features, and epilepsy. The pathological determinants of CTD are still poorly understood, hindering the development of therapies. In this study, we generated an extensive transcriptomic profile of CTD showing that Cr deficiency causes perturbations of gene expression in excitatory neurons, inhibitory cells, and oligodendrocytes which result in remodeling of circuit excitability and synaptic wiring. We also identified specific alterations of parvalbumin-expressing (PV
Identifiants
pubmed: 36882863
doi: 10.1186/s40478-023-01533-w
pii: 10.1186/s40478-023-01533-w
pmc: PMC9990224
doi:
Substances chimiques
Creatine
MU72812GK0
Parvalbumins
0
creatine transporter
0
Membrane Transport Proteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
34Informations de copyright
© 2023. The Author(s).
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