Effects of the administration of Elovl5-dependent fatty acids on a spino-cerebellar ataxia 38 mouse model.
Elovl5
Motor deficits
Polyunsaturated fatty acids
SCA38
Spino-cerebellar ataxia
Journal
Behavioral and brain functions : BBF
ISSN: 1744-9081
Titre abrégé: Behav Brain Funct
Pays: England
ID NLM: 101245751
Informations de publication
Date de publication:
06 Aug 2022
06 Aug 2022
Historique:
received:
03
04
2022
accepted:
13
07
2022
entrez:
6
8
2022
pubmed:
7
8
2022
medline:
10
8
2022
Statut:
epublish
Résumé
Spinocerebellar ataxia 38 (SCA38) is a rare autosomal neurological disorder characterized by ataxia and cerebellar atrophy. SCA38 is caused by mutations of ELOVL5 gene. ELOVL5 gene encodes a protein, which elongates long chain polyunsaturated fatty acids (PUFAs). Knockout mice lacking Elovl5 recapitulate SCA38 symptoms, including motor coordination impairment and disruption of cerebellar architecture. We asked whether, in Elovl5 knockout mice (Elovl5 The administration from birth of the diet containing PUFAs downstream Elovl5 led to a significant amelioration of the motor performance in the beam test of Elovl5 These results suggest that the dietary intervention in SCA38, whenever possible, should be started from birth or as early as possible.
Sections du résumé
BACKGROUND
BACKGROUND
Spinocerebellar ataxia 38 (SCA38) is a rare autosomal neurological disorder characterized by ataxia and cerebellar atrophy. SCA38 is caused by mutations of ELOVL5 gene. ELOVL5 gene encodes a protein, which elongates long chain polyunsaturated fatty acids (PUFAs). Knockout mice lacking Elovl5 recapitulate SCA38 symptoms, including motor coordination impairment and disruption of cerebellar architecture. We asked whether, in Elovl5 knockout mice (Elovl5
RESULTS
RESULTS
The administration from birth of the diet containing PUFAs downstream Elovl5 led to a significant amelioration of the motor performance in the beam test of Elovl5
CONCLUSIONS
CONCLUSIONS
These results suggest that the dietary intervention in SCA38, whenever possible, should be started from birth or as early as possible.
Identifiants
pubmed: 35933444
doi: 10.1186/s12993-022-00194-4
pii: 10.1186/s12993-022-00194-4
pmc: PMC9357323
doi:
Substances chimiques
Fatty Acids
0
Fatty Acids, Unsaturated
0
Elovl5 protein, mouse
EC 2.3.1.-
Fatty Acid Elongases
EC 2.3.1.-
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
8Subventions
Organisme : Fondazione Telethon
ID : GGP14225
Organisme : Università degli Studi di Torino
ID : Local Research Grants 2014
Informations de copyright
© 2022. The Author(s).
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