Next Generation Sequencing Mitochondrial DNA Analysis in Autism Spectrum Disorder / Ashok PATOWARY in Autism Research, 10-8 (August 2017)  

Public ISBD [article]  inAutism Research > 10-8 (August 2017) . - p.1338-1343 Titre : Next Generation Sequencing Mitochondrial DNA Analysis in Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Ashok PATOWARY, Auteur ; Ryan NESBITT, Auteur ; Marilyn ARCHER, Auteur ; Raphael BERNIER, Auteur ; Zoran BRKANAC, Auteur Article en page(s) : p.1338-1343 Langues : Anglais (eng) Mots-clés : mitochondria  autism spectrum disorder  whole exome sequencing  single nucleotide variation  next generation sequencing Index. décimale : PER Périodiques Résumé : Autism is a complex genetic disorder where both de-novo and inherited genetics factors play a role. Next generation sequencing approaches have been extensively used to identify rare variants associated with autism. To date, all such studies were focused on nuclear genome; thereby leaving the role of mitochondrial DNA (mtDNA) variation in autism unexplored. Recently, analytical tools have been developed to evaluate mtDNA in whole-exome data. We have analyzed the mtDNA sequence derived from whole-exome sequencing in 10 multiplex families. In one of the families we have identified two variants of interest in MT-ND5 gene that were previously determined to impair mitochondrial function. In addition in a second family we have identified two VOIs; mtDNA variant in MT-ATP6 and nuclear DNA variant in NDUFS4, where both VOIs are within mitochondrial Respiratory Chain Complex. Our findings provide further support for the role of mitochondria in ASD and confirm that whole-exome sequencing allows for analysis of mtDNA, which sets a stage for further comprehensive genetic investigations of the role of mitochondria in autism. En ligne : http://dx.doi.org/10.1002/aur.1792 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=310 [article] Next Generation Sequencing Mitochondrial DNA Analysis in Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Ashok PATOWARY, Auteur ; Ryan NESBITT, Auteur ; Marilyn ARCHER, Auteur ; Raphael BERNIER, Auteur ; Zoran BRKANAC, Auteur . - p.1338-1343. Langues : Anglais (eng) in Autism Research > 10-8 (August 2017) . - p.1338-1343 Mots-clés : mitochondria  autism spectrum disorder  whole exome sequencing  single nucleotide variation  next generation sequencing Index. décimale : PER Périodiques Résumé : Autism is a complex genetic disorder where both de-novo and inherited genetics factors play a role. Next generation sequencing approaches have been extensively used to identify rare variants associated with autism. To date, all such studies were focused on nuclear genome; thereby leaving the role of mitochondrial DNA (mtDNA) variation in autism unexplored. Recently, analytical tools have been developed to evaluate mtDNA in whole-exome data. We have analyzed the mtDNA sequence derived from whole-exome sequencing in 10 multiplex families. In one of the families we have identified two variants of interest in MT-ND5 gene that were previously determined to impair mitochondrial function. In addition in a second family we have identified two VOIs; mtDNA variant in MT-ATP6 and nuclear DNA variant in NDUFS4, where both VOIs are within mitochondrial Respiratory Chain Complex. Our findings provide further support for the role of mitochondria in ASD and confirm that whole-exome sequencing allows for analysis of mtDNA, which sets a stage for further comprehensive genetic investigations of the role of mitochondria in autism. En ligne : http://dx.doi.org/10.1002/aur.1792 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=310

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