Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability / Carmela SCUDERI in Research in Autism Spectrum Disorders, 100 (February 2023)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 100 (February 2023) . - 102084 Titre : Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability Type de document : Texte imprimé et/ou numérique Auteurs : Carmela SCUDERI, Auteur ; Sandro SANTA PAOLA, Auteur ; Mariangela LO GIUDICE, Auteur ; Francesco Domenico DI BLASI, Auteur ; Stefania GIUSTO, Auteur ; Giuseppa DI VITA, Auteur ; Rosa PETTINATO, Auteur ; Girolamo Aurelio VITELLO, Auteur ; Corrado ROMANO, Auteur ; Serafino BUONO, Auteur ; Vincenzo SALPIETRO, Auteur ; Henry HOULDEN, Auteur ; Eugenia BORGIONE, Auteur Article en page(s) : 102084 Langues : Anglais (eng) Mots-clés : Autism  Intellectual disability  MtDNA  Mitochondrial disease Index. décimale : PER Périodiques Résumé : Background Autism spectrum disorders (ASD) are neurodevelopmental disorders, with heterogeneous etiology, characterized by deficiencies in social interaction, communication, and by repetitive and stereotyped behaviors. Mitochondrial encephalomyopathies are inherited disorders of oxidative metabolism, with a wide clinical, biochemical and genetic heterogeneity, requiring a complex diagnostic flow-chart. Infantile forms often occur with defects in development, intellectual disabilities and dysmorphisms. ASD has been associated with mitochondrial respiratory chain deficiency and/or mitochondrial DNA (mtDNA) mutations. However, few studies carried out detailed clinical, instrumental, morphological, biochemical investigations, and mtDNA sequencing in ASD patients. Method The purpose of this study was the identification of mitochondrial dysfunction due to mtDNA variants in 19 selected subjects presenting ASD and clinical features of mitochondrial disease. For these patients we adopted a multidisciplinary approach combining clinical and laboratory investigations on muscle biopsy, with biochemical, histological and genetic techniques. Results The histological examination showed myogenic or neurogenic changes in 79 % of patients; furthermore, 58 % of the patients had lipid accumulation, mitochondrial proliferation and COX deficient fibers. The biochemical investigations reported in three patients impairments involving one or more of the respiratory chain complexes. In addition, genetic studies revealed in one patient with normal histology and biochemistry multiple mtDNA deletions, and in four patients different mtDNA point mutations. Conclusions The present study confirms the hypothesis of an association between ASD and mitochondrial dysfunction. However, further studies in a larger group of subjects are needed. En ligne : https://doi.org/10.1016/j.rasd.2022.102084 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=491 [article] Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability [Texte imprimé et/ou numérique] / Carmela SCUDERI, Auteur ; Sandro SANTA PAOLA, Auteur ; Mariangela LO GIUDICE, Auteur ; Francesco Domenico DI BLASI, Auteur ; Stefania GIUSTO, Auteur ; Giuseppa DI VITA, Auteur ; Rosa PETTINATO, Auteur ; Girolamo Aurelio VITELLO, Auteur ; Corrado ROMANO, Auteur ; Serafino BUONO, Auteur ; Vincenzo SALPIETRO, Auteur ; Henry HOULDEN, Auteur ; Eugenia BORGIONE, Auteur . - 102084. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 100 (February 2023) . - 102084 Mots-clés : Autism  Intellectual disability  MtDNA  Mitochondrial disease Index. décimale : PER Périodiques Résumé : Background Autism spectrum disorders (ASD) are neurodevelopmental disorders, with heterogeneous etiology, characterized by deficiencies in social interaction, communication, and by repetitive and stereotyped behaviors. Mitochondrial encephalomyopathies are inherited disorders of oxidative metabolism, with a wide clinical, biochemical and genetic heterogeneity, requiring a complex diagnostic flow-chart. Infantile forms often occur with defects in development, intellectual disabilities and dysmorphisms. ASD has been associated with mitochondrial respiratory chain deficiency and/or mitochondrial DNA (mtDNA) mutations. However, few studies carried out detailed clinical, instrumental, morphological, biochemical investigations, and mtDNA sequencing in ASD patients. Method The purpose of this study was the identification of mitochondrial dysfunction due to mtDNA variants in 19 selected subjects presenting ASD and clinical features of mitochondrial disease. For these patients we adopted a multidisciplinary approach combining clinical and laboratory investigations on muscle biopsy, with biochemical, histological and genetic techniques. Results The histological examination showed myogenic or neurogenic changes in 79 % of patients; furthermore, 58 % of the patients had lipid accumulation, mitochondrial proliferation and COX deficient fibers. The biochemical investigations reported in three patients impairments involving one or more of the respiratory chain complexes. In addition, genetic studies revealed in one patient with normal histology and biochemistry multiple mtDNA deletions, and in four patients different mtDNA point mutations. Conclusions The present study confirms the hypothesis of an association between ASD and mitochondrial dysfunction. However, further studies in a larger group of subjects are needed. En ligne : https://doi.org/10.1016/j.rasd.2022.102084 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=491

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