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Mitochondrial Dysfunction in Autism Spectrum Disorders / Maheen F. SIDDIQUI in Autism - Open Access, 6-5 ([01/09/2016])
[article]
Titre : Mitochondrial Dysfunction in Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Maheen F. SIDDIQUI, Auteur ; Clare ELWELL, Auteur ; Mark H. JOHNSON, Auteur Article en page(s) : 7 p. Langues : Anglais (eng) Mots-clés : Autism Mitochondrial dysfunction Mitochondrial health Energy metabolism Electron transport chain Mitochondrial deficiency Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASD) are classified as neurodevelopmental disorders characterised by diminished social communication and interaction. Recently, evidence has accrued that a significant proportion of individuals with autism have concomitant diseases such as mitochondrial disease and abnormalities of energy generation. This has therefore led to the hypothesis that autism may be linked to mitochondrial dysfunction. We review such studies reporting decreased activity of mitochondrial electron transport chain (ETC) complexes and reduced gene expression of mitochondrial genes, in particular genes of respiratory chain complexes, in individuals with autism. Overall, the findings support the hypothesis that there is an association of ASD with impaired mitochondrial function; however, many of the studies have small sample sizes and there is variability in the techniques utilised. There is therefore a vital need to utilise novel imaging techniques, such as near-infrared spectroscopy, that will allow non-invasive measurement of metabolic markers for neuronal activity such as cytochrome c oxidase, in order to better establish the link between autism and mitochondrial dysfunction. En ligne : https://dx.doi.org/10.4172/2165-7890.1000190 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=410
in Autism - Open Access > 6-5 [01/09/2016] . - 7 p.[article] Mitochondrial Dysfunction in Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Maheen F. SIDDIQUI, Auteur ; Clare ELWELL, Auteur ; Mark H. JOHNSON, Auteur . - 7 p.
Langues : Anglais (eng)
in Autism - Open Access > 6-5 [01/09/2016] . - 7 p.
Mots-clés : Autism Mitochondrial dysfunction Mitochondrial health Energy metabolism Electron transport chain Mitochondrial deficiency Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASD) are classified as neurodevelopmental disorders characterised by diminished social communication and interaction. Recently, evidence has accrued that a significant proportion of individuals with autism have concomitant diseases such as mitochondrial disease and abnormalities of energy generation. This has therefore led to the hypothesis that autism may be linked to mitochondrial dysfunction. We review such studies reporting decreased activity of mitochondrial electron transport chain (ETC) complexes and reduced gene expression of mitochondrial genes, in particular genes of respiratory chain complexes, in individuals with autism. Overall, the findings support the hypothesis that there is an association of ASD with impaired mitochondrial function; however, many of the studies have small sample sizes and there is variability in the techniques utilised. There is therefore a vital need to utilise novel imaging techniques, such as near-infrared spectroscopy, that will allow non-invasive measurement of metabolic markers for neuronal activity such as cytochrome c oxidase, in order to better establish the link between autism and mitochondrial dysfunction. En ligne : https://dx.doi.org/10.4172/2165-7890.1000190 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=410 Mitochondrial Dysfunction in Autistic Children and Oral Coenzyme Q10 Supplementation Treatment / Elham MOUSAVINEJAD in Autism - Open Access, 6-4 ([01/07/2016])
[article]
Titre : Mitochondrial Dysfunction in Autistic Children and Oral Coenzyme Q10 Supplementation Treatment Type de document : Texte imprimé et/ou numérique Auteurs : Elham MOUSAVINEJAD, Auteur ; Mohammad ALI GHAFFARI, Auteur ; Mohammad Reza AFSHARMANESH, Auteur ; Sahar SADEGH-NEJADI, Auteur ; Wesam KOOTI, Auteur ; Reza AFRISHAM, Auteur Article en page(s) : 5 p. Langues : Anglais (eng) Mots-clés : Autism spectrum of disorders Children Mitochondrial dysfunction Coenzyme Q10 Index. décimale : PER Périodiques Résumé : This review was conducted in order to determine the effect of Oral Coenzyme Q10 supplement on children diagnosed with Autism spectrum of disorders. Among the most common treatments used for autistic spectrum disorders, vitamin/mineral supplements are considered to be the most common treatments. An oral vitamin/mineral supplementation has benefits in improving the nutritional and metabolic status of children with ASD; these include the improvement of oxidative stress, inflammation, but research on using these supplements for treating CoenzymeQ10 supplement on autistic children has been limited. Mitochondrial dysfunctions occur in a subset of ASD. Different cases usually occur due to genetic anomalies or mitochondrial respiratory pathway abnormalities. In addition, they have also been associated with different behaviours in children. There have been many studies that reveal evidence of mitochondrial dysfunction (MtD) in children with ASD. Various drugs of either synthetic or natural origin applied in the treatment of brain disorders need to cross the BBB before they can be used in Alzheimer’s disease, Parkinson’s disease, autism, and many other chronic illnesses. This review suggests that a Coenzyme Q10 supplement is a reasonable MtD therapy to consider for most children diagnosed with Autism. En ligne : https://dx.doi.org/10.4172/2165-7890.1000189 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=410
in Autism - Open Access > 6-4 [01/07/2016] . - 5 p.[article] Mitochondrial Dysfunction in Autistic Children and Oral Coenzyme Q10 Supplementation Treatment [Texte imprimé et/ou numérique] / Elham MOUSAVINEJAD, Auteur ; Mohammad ALI GHAFFARI, Auteur ; Mohammad Reza AFSHARMANESH, Auteur ; Sahar SADEGH-NEJADI, Auteur ; Wesam KOOTI, Auteur ; Reza AFRISHAM, Auteur . - 5 p.
Langues : Anglais (eng)
in Autism - Open Access > 6-4 [01/07/2016] . - 5 p.
Mots-clés : Autism spectrum of disorders Children Mitochondrial dysfunction Coenzyme Q10 Index. décimale : PER Périodiques Résumé : This review was conducted in order to determine the effect of Oral Coenzyme Q10 supplement on children diagnosed with Autism spectrum of disorders. Among the most common treatments used for autistic spectrum disorders, vitamin/mineral supplements are considered to be the most common treatments. An oral vitamin/mineral supplementation has benefits in improving the nutritional and metabolic status of children with ASD; these include the improvement of oxidative stress, inflammation, but research on using these supplements for treating CoenzymeQ10 supplement on autistic children has been limited. Mitochondrial dysfunctions occur in a subset of ASD. Different cases usually occur due to genetic anomalies or mitochondrial respiratory pathway abnormalities. In addition, they have also been associated with different behaviours in children. There have been many studies that reveal evidence of mitochondrial dysfunction (MtD) in children with ASD. Various drugs of either synthetic or natural origin applied in the treatment of brain disorders need to cross the BBB before they can be used in Alzheimer’s disease, Parkinson’s disease, autism, and many other chronic illnesses. This review suggests that a Coenzyme Q10 supplement is a reasonable MtD therapy to consider for most children diagnosed with Autism. En ligne : https://dx.doi.org/10.4172/2165-7890.1000189 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=410 DNA Methylation Associated with Mitochondrial Dysfunction in a South African Autism Spectrum Disorder Cohort / Sofia STATHOPOULOS in Autism Research, 13-7 (July 2020)
[article]
Titre : DNA Methylation Associated with Mitochondrial Dysfunction in a South African Autism Spectrum Disorder Cohort Type de document : Texte imprimé et/ou numérique Auteurs : Sofia STATHOPOULOS, Auteur ; Renaud GAUJOUX, Auteur ; Zander LINDEQUE, Auteur ; Caitlyn MAHONY, Auteur ; Rachelle VAN DER COLFF, Auteur ; Francois VAN DER WESTHUIZEN, Auteur ; Colleen O'RYAN, Auteur Article en page(s) : p.1079-1093 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder DNA methylation Pccb Pcdha12 epigenetics metabolomic profiles mitochondrial dysfunction organic acids Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is characterized by phenotypic heterogeneity and a complex genetic architecture which includes distinctive epigenetic patterns. We report differential DNA methylation patterns associated with ASD in South African children. An exploratory whole-epigenome methylation screen using the Illumina 450?K MethylationArray identified differentially methylated CpG sites between ASD and controls that mapped to 898 genes (P ??0.05) which were enriched for nine canonical pathways converging on mitochondrial metabolism and protein ubiquitination. Targeted Next Generation Bisulfite Sequencing of 27 genes confirmed differential methylation between ASD and control in our cohort. DNA pyrosequencing of two of these genes, the mitochondrial enzyme Propionyl-CoA Carboxylase subunit Beta (PCCB) and Protocadherin Alpha 12 (PCDHA12), revealed a wide range of methylation levels (9-49% and 0-54%, respectively) in both ASD and controls. Three CpG loci were differentially methylated in PCCB (P ??0.05), while PCDHA12, previously linked to ASD, had two significantly different CpG sites (P ??0.001) between ASD and control. Differentially methylated CpGs were hypomethylated in ASD. Metabolomic analysis of urinary organic acids revealed that three metabolites, 3-hydroxy-3-methylglutaric acid (P =?0.008), 3-methyglutaconic acid (P =?0.018), and ethylmalonic acid (P =?0.043) were significantly elevated in individuals with ASD. These metabolites are directly linked to mitochondrial respiratory chain disorders, with a putative link to PCCB, consistent with impaired mitochondrial function. Our data support an association between DNA methylation and mitochondrial dysfunction in the etiology of ASD. Autism Res 2020, 13: 1079-1093. © 2020 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals, Inc. LAY SUMMARY: Epigenetic changes are chemical modifications of DNA which can change gene function. DNA methylation, a type of epigenetic modification, is linked to autism. We examined DNA methylation in South African children with autism and identified mitochondrial genes associated with autism. Mitochondria are power-suppliers in cells and mitochondrial genes are essential to metabolism and energy production, which are important for brain cells during development. Our findings suggest that some individuals with ASD also have mitochondrial dysfunction. En ligne : http://dx.doi.org/10.1002/aur.2310 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=429
in Autism Research > 13-7 (July 2020) . - p.1079-1093[article] DNA Methylation Associated with Mitochondrial Dysfunction in a South African Autism Spectrum Disorder Cohort [Texte imprimé et/ou numérique] / Sofia STATHOPOULOS, Auteur ; Renaud GAUJOUX, Auteur ; Zander LINDEQUE, Auteur ; Caitlyn MAHONY, Auteur ; Rachelle VAN DER COLFF, Auteur ; Francois VAN DER WESTHUIZEN, Auteur ; Colleen O'RYAN, Auteur . - p.1079-1093.
Langues : Anglais (eng)
in Autism Research > 13-7 (July 2020) . - p.1079-1093
Mots-clés : Autism Spectrum Disorder DNA methylation Pccb Pcdha12 epigenetics metabolomic profiles mitochondrial dysfunction organic acids Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is characterized by phenotypic heterogeneity and a complex genetic architecture which includes distinctive epigenetic patterns. We report differential DNA methylation patterns associated with ASD in South African children. An exploratory whole-epigenome methylation screen using the Illumina 450?K MethylationArray identified differentially methylated CpG sites between ASD and controls that mapped to 898 genes (P ??0.05) which were enriched for nine canonical pathways converging on mitochondrial metabolism and protein ubiquitination. Targeted Next Generation Bisulfite Sequencing of 27 genes confirmed differential methylation between ASD and control in our cohort. DNA pyrosequencing of two of these genes, the mitochondrial enzyme Propionyl-CoA Carboxylase subunit Beta (PCCB) and Protocadherin Alpha 12 (PCDHA12), revealed a wide range of methylation levels (9-49% and 0-54%, respectively) in both ASD and controls. Three CpG loci were differentially methylated in PCCB (P ??0.05), while PCDHA12, previously linked to ASD, had two significantly different CpG sites (P ??0.001) between ASD and control. Differentially methylated CpGs were hypomethylated in ASD. Metabolomic analysis of urinary organic acids revealed that three metabolites, 3-hydroxy-3-methylglutaric acid (P =?0.008), 3-methyglutaconic acid (P =?0.018), and ethylmalonic acid (P =?0.043) were significantly elevated in individuals with ASD. These metabolites are directly linked to mitochondrial respiratory chain disorders, with a putative link to PCCB, consistent with impaired mitochondrial function. Our data support an association between DNA methylation and mitochondrial dysfunction in the etiology of ASD. Autism Res 2020, 13: 1079-1093. © 2020 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals, Inc. LAY SUMMARY: Epigenetic changes are chemical modifications of DNA which can change gene function. DNA methylation, a type of epigenetic modification, is linked to autism. We examined DNA methylation in South African children with autism and identified mitochondrial genes associated with autism. Mitochondria are power-suppliers in cells and mitochondrial genes are essential to metabolism and energy production, which are important for brain cells during development. Our findings suggest that some individuals with ASD also have mitochondrial dysfunction. En ligne : http://dx.doi.org/10.1002/aur.2310 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=429 Increased cerebral lactate levels in adults with autism spectrum disorders compared to non-autistic controls: a magnetic resonance spectroscopy study / Kathrin NICKEL ; Thomas LANGE ; Georg OELTZSCHNER ; Michael DACKO ; Dominique ENDRES ; Kimon RUNGE ; Anke SCHUMANN ; Katharina DOMSCHKE ; Michalis ROUSOS ; Ludger TEBARTZ VAN ELST in Molecular Autism, 14 (2023)
[article]
Titre : Increased cerebral lactate levels in adults with autism spectrum disorders compared to non-autistic controls: a magnetic resonance spectroscopy study Type de document : Texte imprimé et/ou numérique Auteurs : Kathrin NICKEL, Auteur ; Thomas LANGE, Auteur ; Georg OELTZSCHNER, Auteur ; Michael DACKO, Auteur ; Dominique ENDRES, Auteur ; Kimon RUNGE, Auteur ; Anke SCHUMANN, Auteur ; Katharina DOMSCHKE, Auteur ; Michalis ROUSOS, Auteur ; Ludger TEBARTZ VAN ELST, Auteur Article en page(s) : 44 p. Langues : Anglais (eng) Mots-clés : Humans Adult *Autism Spectrum Disorder/diagnostic imaging/metabolism Magnetic Resonance Spectroscopy/methods Magnetic Resonance Imaging Lactic Acid/metabolism Biomarkers Autism spectrum disorder Lactate Magnetic resonance spectroscopy Mitochondria Mitochondrial dysfunction Posterior cingulate cortex or travel grants within the last 3 years: Roche, Eli Lilly, Janssen-Cilag, Novartis, Shire, UCB, GSK, Servier, Janssen, and Cyberonics. All other authors declare that they do not have any conflicts of interest. Index. décimale : PER Périodiques Résumé : INTRODUCTION: Autism spectrum disorder (ASD) encompasses a heterogeneous group with varied phenotypes and etiologies. Identifying pathogenic subgroups could facilitate targeted treatments. One promising avenue is investigating energy metabolism, as mitochondrial dysfunction has been implicated in a subgroup of ASD. Lactate, an indicator of energy metabolic anomalies, may serve as a potential biomarker for this subgroup. This study aimed to examine cerebral lactate (Lac+) levels in high-functioning adults with ASD, hypothesizing elevated mean Lac+ concentrations in contrast to neurotypical controls (NTCs). MATERIALS AND METHODS: Magnetic resonance spectroscopy (MRS) was used to study cerebral Lac+ in 71 adults with ASD and NTC, focusing on the posterior cingulate cortex (PCC). After quality control, 64 ASD and 58 NTC participants remained. Lac+ levels two standard deviations above the mean of the control group were considered elevated. RESULTS: Mean PCC Lac+ levels were significantly higher in the ASD group than in the NTC group (p=0.028; Cohen's d=0.404), and 9.4% of the ASD group had elevated levels as compared to 0% of the NTCs (p=0.029). No significant correlation was found between blood serum lactate levels and MRS-derived Lac+ levels. LIMITATIONS: A cautious interpretation of our results is warranted due to a p value of 0.028. In addition, a higher than anticipated proportion of data sets had to be excluded due to poor spectral quality. CONCLUSION: This study confirms the presence of elevated cerebral Lac+ levels in a subgroup of adults with ASD, suggesting the potential of lactate as a biomarker for mitochondrial dysfunction in a subgroup of ASD. The lower-than-expected prevalence (20% was expected) and moderate increase require further investigation to elucidate the underlying mechanisms and relationships with mitochondrial function. En ligne : https://dx.doi.org/10.1186/s13229-023-00577-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=518
in Molecular Autism > 14 (2023) . - 44 p.[article] Increased cerebral lactate levels in adults with autism spectrum disorders compared to non-autistic controls: a magnetic resonance spectroscopy study [Texte imprimé et/ou numérique] / Kathrin NICKEL, Auteur ; Thomas LANGE, Auteur ; Georg OELTZSCHNER, Auteur ; Michael DACKO, Auteur ; Dominique ENDRES, Auteur ; Kimon RUNGE, Auteur ; Anke SCHUMANN, Auteur ; Katharina DOMSCHKE, Auteur ; Michalis ROUSOS, Auteur ; Ludger TEBARTZ VAN ELST, Auteur . - 44 p.
Langues : Anglais (eng)
in Molecular Autism > 14 (2023) . - 44 p.
Mots-clés : Humans Adult *Autism Spectrum Disorder/diagnostic imaging/metabolism Magnetic Resonance Spectroscopy/methods Magnetic Resonance Imaging Lactic Acid/metabolism Biomarkers Autism spectrum disorder Lactate Magnetic resonance spectroscopy Mitochondria Mitochondrial dysfunction Posterior cingulate cortex or travel grants within the last 3 years: Roche, Eli Lilly, Janssen-Cilag, Novartis, Shire, UCB, GSK, Servier, Janssen, and Cyberonics. All other authors declare that they do not have any conflicts of interest. Index. décimale : PER Périodiques Résumé : INTRODUCTION: Autism spectrum disorder (ASD) encompasses a heterogeneous group with varied phenotypes and etiologies. Identifying pathogenic subgroups could facilitate targeted treatments. One promising avenue is investigating energy metabolism, as mitochondrial dysfunction has been implicated in a subgroup of ASD. Lactate, an indicator of energy metabolic anomalies, may serve as a potential biomarker for this subgroup. This study aimed to examine cerebral lactate (Lac+) levels in high-functioning adults with ASD, hypothesizing elevated mean Lac+ concentrations in contrast to neurotypical controls (NTCs). MATERIALS AND METHODS: Magnetic resonance spectroscopy (MRS) was used to study cerebral Lac+ in 71 adults with ASD and NTC, focusing on the posterior cingulate cortex (PCC). After quality control, 64 ASD and 58 NTC participants remained. Lac+ levels two standard deviations above the mean of the control group were considered elevated. RESULTS: Mean PCC Lac+ levels were significantly higher in the ASD group than in the NTC group (p=0.028; Cohen's d=0.404), and 9.4% of the ASD group had elevated levels as compared to 0% of the NTCs (p=0.029). No significant correlation was found between blood serum lactate levels and MRS-derived Lac+ levels. LIMITATIONS: A cautious interpretation of our results is warranted due to a p value of 0.028. In addition, a higher than anticipated proportion of data sets had to be excluded due to poor spectral quality. CONCLUSION: This study confirms the presence of elevated cerebral Lac+ levels in a subgroup of adults with ASD, suggesting the potential of lactate as a biomarker for mitochondrial dysfunction in a subgroup of ASD. The lower-than-expected prevalence (20% was expected) and moderate increase require further investigation to elucidate the underlying mechanisms and relationships with mitochondrial function. En ligne : https://dx.doi.org/10.1186/s13229-023-00577-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=518