D-aspartate oxidase gene duplication induces social recognition memory deficit in mice and intellectual disabilities in humans.
Journal
Translational psychiatry
ISSN: 2158-3188
Titre abrégé: Transl Psychiatry
Pays: United States
ID NLM: 101562664
Informations de publication
Date de publication:
01 08 2022
01 08 2022
Historique:
received:
24
03
2022
accepted:
21
07
2022
revised:
16
07
2022
entrez:
1
8
2022
pubmed:
2
8
2022
medline:
4
8
2022
Statut:
epublish
Résumé
The D-aspartate oxidase (DDO) gene encodes the enzyme responsible for the catabolism of D-aspartate, an atypical amino acid enriched in the mammalian brain and acting as an endogenous NMDA receptor agonist. Considering the key role of NMDA receptors in neurodevelopmental disorders, recent findings suggest a link between D-aspartate dysmetabolism and schizophrenia. To clarify the role of D-aspartate on brain development and functioning, we used a mouse model with constitutive Ddo overexpression and D-aspartate depletion. In these mice, we found reduced number of BrdU-positive dorsal pallium neurons during corticogenesis, and decreased cortical and striatal gray matter volume at adulthood. Brain abnormalities were associated with social recognition memory deficit at juvenile phase, suggesting that early D-aspartate occurrence influences neurodevelopmental related phenotypes. We corroborated this hypothesis by reporting the first clinical case of a young patient with severe intellectual disability, thought disorders and autism spectrum disorder symptomatology, harboring a duplication of a chromosome 6 region, including the entire DDO gene.
Identifiants
pubmed: 35915065
doi: 10.1038/s41398-022-02088-5
pii: 10.1038/s41398-022-02088-5
pmc: PMC9343392
doi:
Substances chimiques
Receptors, N-Methyl-D-Aspartate
0
Aspartic Acid
30KYC7MIAI
D-Aspartic Acid
4SR0Q8YD1X
Oxidoreductases
EC 1.-
D-Aspartate Oxidase
EC 1.4.3.1
Types de publication
Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
305Subventions
Organisme : Telethon
ID : GGP19177
Pays : Italy
Organisme : NIH HHS
ID : 1R21MH116473-01A1
Pays : United States
Organisme : NIMH NIH HHS
ID : R21 MH116473
Pays : United States
Informations de copyright
© 2022. The Author(s).
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