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Auteur Gundega STELFA |
Documents disponibles écrits par cet auteur (1)
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Knockout of Tmlhe in mice is not associated with autism spectrum disorder phenotypes or motor dysfunction despite low carnitine levels / Baiba SVALBE ; Gundega STELFA ; Solveiga GRINBERGA ; Liga ZVEJNIECE ; Helgi B. SCHIÖTH ; Maija DAMBROVA in Molecular Autism, 14 (2023)
[article]
Titre : Knockout of Tmlhe in mice is not associated with autism spectrum disorder phenotypes or motor dysfunction despite low carnitine levels Type de document : Texte imprimé et/ou numérique Auteurs : Baiba SVALBE, Auteur ; Gundega STELFA, Auteur ; Solveiga GRINBERGA, Auteur ; Liga ZVEJNIECE, Auteur ; Helgi B. SCHIÖTH, Auteur ; Maija DAMBROVA, Auteur Article en page(s) : 29 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Deletion of exon 2 of the trimethyllysine hydroxylase epsilon (TMLHE) gene was identified in probands with autism spectrum disorder (ASD). TMLHE encodes the first enzyme in carnitine biosynthesis, N6-trimethyllysine dioxygenase (TMLD). Researchers have suggested that carnitine depletion could be important for the development of ASD and cognitive, locomotor and social dysfunctions, but previous findings have been inconclusive regarding the specific role of endogenous carnitine. We developed a mouse knockout model with constitutive TMLD enzyme inactivation that exhibited a significant decrease in the carnitine by more than 90% compared to wild-type (WT) mice. However, we did not observe any significant social, cognitive, or repetitive-behavior changes associated with ASD in the knockout mice; muscle strength and coordination were also not affected. In addition, the life expectancy of knockout mice was similar to that of WT mice. In conclusion, knockout of Tmlh in mice does not induce an ASD phenotype or motor dysfunction despite extremely low carnitine and gamma-butyrobetaine concentrations. Moreover, inactivation of TMLD does not induce a phenotype similar to previously described primary carnitine deficiency; indeed, our results showed that low levels of carnitine sustained adequate energy production, muscle function and social behavior in mice. En ligne : http://dx.doi.org/10.1186/s13229-023-00560-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=513
in Molecular Autism > 14 (2023) . - 29 p.[article] Knockout of Tmlhe in mice is not associated with autism spectrum disorder phenotypes or motor dysfunction despite low carnitine levels [Texte imprimé et/ou numérique] / Baiba SVALBE, Auteur ; Gundega STELFA, Auteur ; Solveiga GRINBERGA, Auteur ; Liga ZVEJNIECE, Auteur ; Helgi B. SCHIÖTH, Auteur ; Maija DAMBROVA, Auteur . - 29 p.
Langues : Anglais (eng)
in Molecular Autism > 14 (2023) . - 29 p.
Index. décimale : PER Périodiques Résumé : Deletion of exon 2 of the trimethyllysine hydroxylase epsilon (TMLHE) gene was identified in probands with autism spectrum disorder (ASD). TMLHE encodes the first enzyme in carnitine biosynthesis, N6-trimethyllysine dioxygenase (TMLD). Researchers have suggested that carnitine depletion could be important for the development of ASD and cognitive, locomotor and social dysfunctions, but previous findings have been inconclusive regarding the specific role of endogenous carnitine. We developed a mouse knockout model with constitutive TMLD enzyme inactivation that exhibited a significant decrease in the carnitine by more than 90% compared to wild-type (WT) mice. However, we did not observe any significant social, cognitive, or repetitive-behavior changes associated with ASD in the knockout mice; muscle strength and coordination were also not affected. In addition, the life expectancy of knockout mice was similar to that of WT mice. In conclusion, knockout of Tmlh in mice does not induce an ASD phenotype or motor dysfunction despite extremely low carnitine and gamma-butyrobetaine concentrations. Moreover, inactivation of TMLD does not induce a phenotype similar to previously described primary carnitine deficiency; indeed, our results showed that low levels of carnitine sustained adequate energy production, muscle function and social behavior in mice. En ligne : http://dx.doi.org/10.1186/s13229-023-00560-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=513