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Détail de l'auteur
Auteur Helgi B. SCHIÖTH |
Documents disponibles écrits par cet auteur (2)
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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 Well-being spectrum traits are associated with polygenic scores for autism / Salahuddin MOHAMMAD in Autism Research, 16-10 (October 2023)
[article]
Titre : Well-being spectrum traits are associated with polygenic scores for autism Type de document : Texte imprimé et/ou numérique Auteurs : Salahuddin MOHAMMAD, Auteur ; Markus J. T. DE RUIJTER, Auteur ; Gull RUKH, Auteur ; Mathias RASK-ANDERSEN, Auteur ; Jessica MWINYI, Auteur ; Helgi B. SCHIÖTH, Auteur Article en page(s) : p.1891-1902 Index. décimale : PER Périodiques Résumé : Abstract Individuals with autism spectrum disorder (ASD) tend to experience lower well-being as demonstrated mostly for children and adolescents in epidemiological studies. A further investigation of inclusive well-being, in terms of five well-being spectrum (5-WBS) traits including neuroticism, depression, loneliness, life satisfaction, and positive affect, among adults with ASD may deepen our understanding of their well-being, and lead to the possibility to further modify societal supportive mechanisms for individuals with ASD. This study aims to investigate if a genetic predisposition for ASD is associated with 5-WBS traits using polygenic risk score (PRS) analysis. PRS for ASD were calculated based on the latest genome-wide association study of ASD by the Psychiatric Genetics Consortium (18,381 cases, 27,969 controls) and were created in the independent cohort UK Biobank. Regression analyses were performed to investigate the association between ASD PRS and 5-WBS traits in the UK Biobank population including 337,423 individuals. ASD PRS were significantly associated with all 5-WBS traits, showing a positive association with the negative WBS traits, neuroticism (max R2?=?0.04%, p?1?*?10?4), depression (max R2?=?0.06%, p?1?*?10?4), loneliness (max R2?=?0.04%, p?1?*?10?4), and a negative association with the positive WBS traits, life satisfaction (max R2?=?0.08%, p?1?*?10?4), positive affect (max R2?=?0.10%, p?1?*?10?4). The findings suggest that adults carrying a high load of risk single nucleotide peptides (SNPs) for ASD are more likely to report decreased well-being. The study demonstrates a considerable connection between susceptibility to ASD, its underlying genetic etiology and well-being. En ligne : https://doi.org/10.1002/aur.3011 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=513
in Autism Research > 16-10 (October 2023) . - p.1891-1902[article] Well-being spectrum traits are associated with polygenic scores for autism [Texte imprimé et/ou numérique] / Salahuddin MOHAMMAD, Auteur ; Markus J. T. DE RUIJTER, Auteur ; Gull RUKH, Auteur ; Mathias RASK-ANDERSEN, Auteur ; Jessica MWINYI, Auteur ; Helgi B. SCHIÖTH, Auteur . - p.1891-1902.
in Autism Research > 16-10 (October 2023) . - p.1891-1902
Index. décimale : PER Périodiques Résumé : Abstract Individuals with autism spectrum disorder (ASD) tend to experience lower well-being as demonstrated mostly for children and adolescents in epidemiological studies. A further investigation of inclusive well-being, in terms of five well-being spectrum (5-WBS) traits including neuroticism, depression, loneliness, life satisfaction, and positive affect, among adults with ASD may deepen our understanding of their well-being, and lead to the possibility to further modify societal supportive mechanisms for individuals with ASD. This study aims to investigate if a genetic predisposition for ASD is associated with 5-WBS traits using polygenic risk score (PRS) analysis. PRS for ASD were calculated based on the latest genome-wide association study of ASD by the Psychiatric Genetics Consortium (18,381 cases, 27,969 controls) and were created in the independent cohort UK Biobank. Regression analyses were performed to investigate the association between ASD PRS and 5-WBS traits in the UK Biobank population including 337,423 individuals. ASD PRS were significantly associated with all 5-WBS traits, showing a positive association with the negative WBS traits, neuroticism (max R2?=?0.04%, p?1?*?10?4), depression (max R2?=?0.06%, p?1?*?10?4), loneliness (max R2?=?0.04%, p?1?*?10?4), and a negative association with the positive WBS traits, life satisfaction (max R2?=?0.08%, p?1?*?10?4), positive affect (max R2?=?0.10%, p?1?*?10?4). The findings suggest that adults carrying a high load of risk single nucleotide peptides (SNPs) for ASD are more likely to report decreased well-being. The study demonstrates a considerable connection between susceptibility to ASD, its underlying genetic etiology and well-being. En ligne : https://doi.org/10.1002/aur.3011 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=513