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Altered DNA methylation in a severe subtype of idiopathic autism: Evidence for sex differences in affected metabolic pathways / Valerie W. HU in Autism, 25-4 (May 2021)
[article]
Titre : Altered DNA methylation in a severe subtype of idiopathic autism: Evidence for sex differences in affected metabolic pathways Type de document : Texte imprimé et/ou numérique Auteurs : Valerie W. HU, Auteur ; Yi HONG, Auteur ; Minyi XU, Auteur ; Henry T. SHU, Auteur Article en page(s) : p.887-910 Langues : Anglais (eng) Mots-clés : DNA methylation autism autism spectrum disorder phenotype differentially methylated genes lymphoblastoid cells promoter arrays sex differences signaling and metabolic pathways Index. décimale : PER Périodiques Résumé : This study investigates altered DNA methylation that may contribute to autism spectrum disorders. DNA methylation is an epigenetic mechanism for regulating the level at which genes are expressed, and is thus complementary to genetics and gene expression analyses which look at the variations in gene structure and gene products in cells. Here, we identify DNA methylation differences between autistic and sex-matched non-autistic siblings, focusing on a subgroup of severely affected individuals with language impairment to reduce the clinical heterogeneity among the cases. Our results show significant differentially methylated genes between the sibling groups that are enriched in autism risk genes as well as in signaling and biochemical pathways previously associated with the pathobiology of autism spectrum disorders. Moreover, we show for the first time that these differences are in part sex dependent, with differentially methylated genes in females associated with pathways that implicate mitochondrial dysfunction and metabolic disorders that may offer some protection to females against autism spectrum disorders. Further investigations of sex differences are required to develop a fuller understanding of the pathobiology, gene regulatory mechanisms, and differential susceptibility of males and females toward autism spectrum disorders. En ligne : http://dx.doi.org/10.1177/1362361320971085 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=444
in Autism > 25-4 (May 2021) . - p.887-910[article] Altered DNA methylation in a severe subtype of idiopathic autism: Evidence for sex differences in affected metabolic pathways [Texte imprimé et/ou numérique] / Valerie W. HU, Auteur ; Yi HONG, Auteur ; Minyi XU, Auteur ; Henry T. SHU, Auteur . - p.887-910.
Langues : Anglais (eng)
in Autism > 25-4 (May 2021) . - p.887-910
Mots-clés : DNA methylation autism autism spectrum disorder phenotype differentially methylated genes lymphoblastoid cells promoter arrays sex differences signaling and metabolic pathways Index. décimale : PER Périodiques Résumé : This study investigates altered DNA methylation that may contribute to autism spectrum disorders. DNA methylation is an epigenetic mechanism for regulating the level at which genes are expressed, and is thus complementary to genetics and gene expression analyses which look at the variations in gene structure and gene products in cells. Here, we identify DNA methylation differences between autistic and sex-matched non-autistic siblings, focusing on a subgroup of severely affected individuals with language impairment to reduce the clinical heterogeneity among the cases. Our results show significant differentially methylated genes between the sibling groups that are enriched in autism risk genes as well as in signaling and biochemical pathways previously associated with the pathobiology of autism spectrum disorders. Moreover, we show for the first time that these differences are in part sex dependent, with differentially methylated genes in females associated with pathways that implicate mitochondrial dysfunction and metabolic disorders that may offer some protection to females against autism spectrum disorders. Further investigations of sex differences are required to develop a fuller understanding of the pathobiology, gene regulatory mechanisms, and differential susceptibility of males and females toward autism spectrum disorders. En ligne : http://dx.doi.org/10.1177/1362361320971085 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=444