Brain region-specific altered expression and association of mitochondria-related genes in autism / Ayyappan ANITHA in Molecular Autism, (November 2012)  

Public ISBD [article]  inMolecular Autism > (November 2012) . - 12 p. Titre : Brain region-specific altered expression and association of mitochondria-related genes in autism Type de document : Texte imprimé et/ou numérique Auteurs : Ayyappan ANITHA, Auteur ; Kazuhiko NAKAMURA, Auteur ; Ismail THANSEEM, Auteur ; Kazuo YAMADA, Auteur ; Yoshimi IWAYAMA, Auteur ; Tomoko TOYOTA, Auteur ; Hideo MATSUZAKI, Auteur ; Taishi MIYACHI, Auteur ; Satoru YAMADA, Auteur ; Masatsugu TSUJII, Auteur ; Kenji J. TSUCHIYA, Auteur ; Kaori MATSUMOTO, Auteur ; Yasuhide IWATA, Auteur ; Katsuaki SUZUKI, Auteur ; Hironobu ICHIKAWA, Auteur ; Toshiro SUGIYAMA, Auteur ; Takeo YOSHIKAWA, Auteur ; Norio MORI, Auteur Année de publication : 2012 Article en page(s) : 12 p. Langues : Anglais (eng) Mots-clés : Autism  Mitochondria  Postmortem brain  NEFL  Uncoupling protein  Metaxin Index. décimale : PER Périodiques Résumé : BACKGROUND:Mitochondrial dysfunction (MtD) has been observed in approximately five percent of children with autism spectrum disorders (ASD). MtD could impair highly energy-dependent processes such as neurodevelopment, thereby contributing to autism. Most of the previous studies of MtD in autism have been restricted to the biomarkers of energy metabolism, while most of the genetic studies have been based on mutations in the mitochondrial DNA (mtDNA). Despite the mtDNA, most of the proteins essential for mitochondrial replication and function are encoded by the genomic DNA; so far, there have been very few studies of those genes. Therefore, we carried out a detailed study involving gene expression and genetic association studies of genes related to diverse mitochondrial functions.METHODS:For gene expression analysis, postmortem brain tissues (anterior cingulate gyrus (ACG), motor cortex (MC) and thalamus (THL)) from autism patients (n=8) and controls (n=10) were obtained from the Autism Tissue Program (Princeton, NJ, USA). Quantitative real-time PCR arrays were used to quantify the expression of 84 genes related to diverse functions of mitochondria, including biogenesis, transport, translocation and apoptosis. We used the delta delta Ct ([increment][increment]Ct) method for quantification of gene expression. DNA samples from 841 Caucasian and 188 Japanese families were used in the association study of genes selected from the gene expression analysis. FBAT was used to examine genetic association with autism.RESULTS:Several genes showed brain region-specific expression alterations in autism patients compared to controls. Metaxin 2 (MTX2), neurofilament, light polypeptide (NEFL) and solute carrier family 25, member 27 (SLC25A27) showed consistently reduced expression in the ACG, MC and THL of autism patients. NEFL (P = 0.038; Z-score 2.066) and SLC25A27 (P = 0.046; Z-score 1.990) showed genetic association with autism in Caucasian and Japanese samples, respectively. The expression of DNAJC19, DNM1L, LRPPRC, SLC25A12, SLC25A14, SLC25A24 and TOMM20 were reduced in at least two of the brain regions of autism patients.CONCLUSIONS:Our study, though preliminary, brings to light some new genes associated with MtD in autism. If MtD is detected in early stages, treatment strategies aimed at reducing its impact may be adopted. En ligne : http://dx.doi.org/10.1186/2040-2392-3-12 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202 [article] Brain region-specific altered expression and association of mitochondria-related genes in autism [Texte imprimé et/ou numérique] / Ayyappan ANITHA, Auteur ; Kazuhiko NAKAMURA, Auteur ; Ismail THANSEEM, Auteur ; Kazuo YAMADA, Auteur ; Yoshimi IWAYAMA, Auteur ; Tomoko TOYOTA, Auteur ; Hideo MATSUZAKI, Auteur ; Taishi MIYACHI, Auteur ; Satoru YAMADA, Auteur ; Masatsugu TSUJII, Auteur ; Kenji J. TSUCHIYA, Auteur ; Kaori MATSUMOTO, Auteur ; Yasuhide IWATA, Auteur ; Katsuaki SUZUKI, Auteur ; Hironobu ICHIKAWA, Auteur ; Toshiro SUGIYAMA, Auteur ; Takeo YOSHIKAWA, Auteur ; Norio MORI, Auteur . - 2012 . - 12 p. Langues : Anglais (eng) in Molecular Autism > (November 2012) . - 12 p. Mots-clés : Autism  Mitochondria  Postmortem brain  NEFL  Uncoupling protein  Metaxin Index. décimale : PER Périodiques Résumé : BACKGROUND:Mitochondrial dysfunction (MtD) has been observed in approximately five percent of children with autism spectrum disorders (ASD). MtD could impair highly energy-dependent processes such as neurodevelopment, thereby contributing to autism. Most of the previous studies of MtD in autism have been restricted to the biomarkers of energy metabolism, while most of the genetic studies have been based on mutations in the mitochondrial DNA (mtDNA). Despite the mtDNA, most of the proteins essential for mitochondrial replication and function are encoded by the genomic DNA; so far, there have been very few studies of those genes. Therefore, we carried out a detailed study involving gene expression and genetic association studies of genes related to diverse mitochondrial functions.METHODS:For gene expression analysis, postmortem brain tissues (anterior cingulate gyrus (ACG), motor cortex (MC) and thalamus (THL)) from autism patients (n=8) and controls (n=10) were obtained from the Autism Tissue Program (Princeton, NJ, USA). Quantitative real-time PCR arrays were used to quantify the expression of 84 genes related to diverse functions of mitochondria, including biogenesis, transport, translocation and apoptosis. We used the delta delta Ct ([increment][increment]Ct) method for quantification of gene expression. DNA samples from 841 Caucasian and 188 Japanese families were used in the association study of genes selected from the gene expression analysis. FBAT was used to examine genetic association with autism.RESULTS:Several genes showed brain region-specific expression alterations in autism patients compared to controls. Metaxin 2 (MTX2), neurofilament, light polypeptide (NEFL) and solute carrier family 25, member 27 (SLC25A27) showed consistently reduced expression in the ACG, MC and THL of autism patients. NEFL (P = 0.038; Z-score 2.066) and SLC25A27 (P = 0.046; Z-score 1.990) showed genetic association with autism in Caucasian and Japanese samples, respectively. The expression of DNAJC19, DNM1L, LRPPRC, SLC25A12, SLC25A14, SLC25A24 and TOMM20 were reduced in at least two of the brain regions of autism patients.CONCLUSIONS:Our study, though preliminary, brings to light some new genes associated with MtD in autism. If MtD is detected in early stages, treatment strategies aimed at reducing its impact may be adopted. En ligne : http://dx.doi.org/10.1186/2040-2392-3-12 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202

Broader autism phenotype as a risk factor for postpartum depression: Hamamatsu Birth Cohort (HBC) Study / Ryosuke ASANO in Research in Autism Spectrum Disorders, 8-12 (December 2014)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 8-12 (December 2014) . - p.1672-1678 Titre : Broader autism phenotype as a risk factor for postpartum depression: Hamamatsu Birth Cohort (HBC) Study Type de document : Texte imprimé et/ou numérique Auteurs : Ryosuke ASANO, Auteur ; Kenji J. TSUCHIYA, Auteur ; Nori TAKEI, Auteur ; Taeko HARADA, Auteur ; Yumeno KUGIZAKI, Auteur ; Ryuji NAKAHARA, Auteur ; Chikako NAKAYASU, Auteur ; Akemi OKUMURA, Auteur ; Yukiko SUZUKI, Auteur ; Shu TAKAGAI, Auteur ; Norio MORI, Auteur Article en page(s) : p.1672-1678 Langues : Anglais (eng) Mots-clés : Postpartum depression  Broader autism phenotype  Epidemiology  Birth cohort  Pregnant women  Japan. Index. décimale : PER Périodiques Résumé : Abstract The broader autism phenotype (BAP), which refers to the expression of behavioral and cognitive propensities that are milder but qualitatively similar to those defining autism spectrum disorder, can play a crucial role in postpartum depression (PPD). We investigated whether pregnant women's BAP would increase the risk for PPD, using a representative birth cohort in Japan. Pregnant women were enrolled in the Hamamatsu Birth Cohort (HBC) Study during their mid-gestation (N = 841) and were followed up until 3 months after delivery. BAP was measured mainly during the 2nd trimester of the pregnancy by using the Broader Phenotype Autism Symptoms Scale. Participants scoring 9 points or higher on the Edinburgh Postnatal Depression Scale at least once during the first 3 months after childbirth were diagnosed with PPD. Among participants, 128 (15.2%) women were found to have PPD. Multiple logistic regression analyses showed that BAP were associated with PPD (OR = 1.19, 95% CI [1.07–1.31]), even after controlling for other potential confounders. In addition, the association was not moderated by history of depression and/or anxiety disorders, including concurrent depressive and anxiety symptoms during pregnancy. The findings suggest that pregnant women with BAP have an elevated risk for PPD. En ligne : http://dx.doi.org/10.1016/j.rasd.2014.08.010 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=243 [article] Broader autism phenotype as a risk factor for postpartum depression: Hamamatsu Birth Cohort (HBC) Study [Texte imprimé et/ou numérique] / Ryosuke ASANO, Auteur ; Kenji J. TSUCHIYA, Auteur ; Nori TAKEI, Auteur ; Taeko HARADA, Auteur ; Yumeno KUGIZAKI, Auteur ; Ryuji NAKAHARA, Auteur ; Chikako NAKAYASU, Auteur ; Akemi OKUMURA, Auteur ; Yukiko SUZUKI, Auteur ; Shu TAKAGAI, Auteur ; Norio MORI, Auteur . - p.1672-1678. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 8-12 (December 2014) . - p.1672-1678 Mots-clés : Postpartum depression  Broader autism phenotype  Epidemiology  Birth cohort  Pregnant women  Japan. Index. décimale : PER Périodiques Résumé : Abstract The broader autism phenotype (BAP), which refers to the expression of behavioral and cognitive propensities that are milder but qualitatively similar to those defining autism spectrum disorder, can play a crucial role in postpartum depression (PPD). We investigated whether pregnant women's BAP would increase the risk for PPD, using a representative birth cohort in Japan. Pregnant women were enrolled in the Hamamatsu Birth Cohort (HBC) Study during their mid-gestation (N = 841) and were followed up until 3 months after delivery. BAP was measured mainly during the 2nd trimester of the pregnancy by using the Broader Phenotype Autism Symptoms Scale. Participants scoring 9 points or higher on the Edinburgh Postnatal Depression Scale at least once during the first 3 months after childbirth were diagnosed with PPD. Among participants, 128 (15.2%) women were found to have PPD. Multiple logistic regression analyses showed that BAP were associated with PPD (OR = 1.19, 95% CI [1.07–1.31]), even after controlling for other potential confounders. In addition, the association was not moderated by history of depression and/or anxiety disorders, including concurrent depressive and anxiety symptoms during pregnancy. The findings suggest that pregnant women with BAP have an elevated risk for PPD. En ligne : http://dx.doi.org/10.1016/j.rasd.2014.08.010 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=243

Decreased expression of axon-guidance receptors in the anterior cingulate cortex in autism / Shiro SUDA in Molecular Autism, (August 2011)  

Public ISBD [article]  inMolecular Autism > (August 2011) . - 5 p. Titre : Decreased expression of axon-guidance receptors in the anterior cingulate cortex in autism Type de document : Texte imprimé et/ou numérique Auteurs : Shiro SUDA, Auteur ; Keiko IWATA, Auteur ; Chie SHIMMURA, Auteur ; Yosuke KAMENO, Auteur ; Ayyappan ANITHA, Auteur ; Ismail THANSEEM, Auteur ; Kazuhiko NAKAMURA, Auteur ; Hideo MATSUZAKI, Auteur ; Kenji J. TSUCHIYA, Auteur ; Genichi SUGIHARA, Auteur ; Yasuhide IWATA, Auteur ; Katsuaki SUZUKI, Auteur ; Keita KOIZUMI, Auteur ; Haruhiro HIGASHIDA, Auteur ; Nori TAKEI, Auteur ; Norio MORI, Auteur Année de publication : 2011 Article en page(s) : 5 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND:Axon-guidance proteins play a crucial role in brain development. As the dysfunction of axon-guidance signaling is thought to underlie the microstructural abnormalities of the brain in people with autism, we examined the postmortem brains of people with autism to identify any changes in the expression of axon-guidance proteins.RESULTS:The mRNA and protein expression of axon-guidance proteins, including ephrin (EFN)A4, eEFNB3, plexin (PLXN)A4, roundabout 2 (ROBO)2 and ROBO3, were examined in the anterior cingulate cortex and primary motor cortex of autistic brains (n = 8 and n = 7, respectively) and control brains (n = 13 and n = 8, respectively) using real-time reverse-transcriptase PCR (RT-PCR) and western blotting. Real-time RT-PCR revealed that the relative expression levels of EFNB3, PLXNA4A and ROBO2 were significantly lower in the autistic group than in the control group. The protein levels of these three genes were further analyzed by western blotting, which showed that the immunoreactive values for PLXNA4 and ROBO2, but not for EFNB3, were significantly reduced in the ACC of the autistic brains compared with control brains.CONCLUSIONS:In this study, we found decreased expression of axon-guidance proteins such as PLXNA4 and ROBO2 in the brains of people with autism, and suggest that dysfunctional axon-guidance protein expression may play an important role in the pathophysiology of autism. En ligne : http://dx.doi.org/10.1186/2040-2392-2-14 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=149 [article] Decreased expression of axon-guidance receptors in the anterior cingulate cortex in autism [Texte imprimé et/ou numérique] / Shiro SUDA, Auteur ; Keiko IWATA, Auteur ; Chie SHIMMURA, Auteur ; Yosuke KAMENO, Auteur ; Ayyappan ANITHA, Auteur ; Ismail THANSEEM, Auteur ; Kazuhiko NAKAMURA, Auteur ; Hideo MATSUZAKI, Auteur ; Kenji J. TSUCHIYA, Auteur ; Genichi SUGIHARA, Auteur ; Yasuhide IWATA, Auteur ; Katsuaki SUZUKI, Auteur ; Keita KOIZUMI, Auteur ; Haruhiro HIGASHIDA, Auteur ; Nori TAKEI, Auteur ; Norio MORI, Auteur . - 2011 . - 5 p. Langues : Anglais (eng) in Molecular Autism > (August 2011) . - 5 p. Index. décimale : PER Périodiques Résumé : BACKGROUND:Axon-guidance proteins play a crucial role in brain development. As the dysfunction of axon-guidance signaling is thought to underlie the microstructural abnormalities of the brain in people with autism, we examined the postmortem brains of people with autism to identify any changes in the expression of axon-guidance proteins.RESULTS:The mRNA and protein expression of axon-guidance proteins, including ephrin (EFN)A4, eEFNB3, plexin (PLXN)A4, roundabout 2 (ROBO)2 and ROBO3, were examined in the anterior cingulate cortex and primary motor cortex of autistic brains (n = 8 and n = 7, respectively) and control brains (n = 13 and n = 8, respectively) using real-time reverse-transcriptase PCR (RT-PCR) and western blotting. Real-time RT-PCR revealed that the relative expression levels of EFNB3, PLXNA4A and ROBO2 were significantly lower in the autistic group than in the control group. The protein levels of these three genes were further analyzed by western blotting, which showed that the immunoreactive values for PLXNA4 and ROBO2, but not for EFNB3, were significantly reduced in the ACC of the autistic brains compared with control brains.CONCLUSIONS:In this study, we found decreased expression of axon-guidance proteins such as PLXNA4 and ROBO2 in the brains of people with autism, and suggest that dysfunctional axon-guidance protein expression may play an important role in the pathophysiology of autism. En ligne : http://dx.doi.org/10.1186/2040-2392-2-14 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=149

Distinguishing Broad Autism Phenotype from Schizophrenia-Spectrum Disorders / Genichi SUGIHARA in Journal of Autism and Developmental Disorders, 38-10 (November 2008)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 38-10 (November 2008) . - p.1998-1999 Titre : Distinguishing Broad Autism Phenotype from Schizophrenia-Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Genichi SUGIHARA, Auteur ; Kenji J. TSUCHIYA, Auteur ; Nori TAKEI, Auteur Année de publication : 2008 Article en page(s) : p.1998-1999 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1007/s10803-008-0638-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=642 [article] Distinguishing Broad Autism Phenotype from Schizophrenia-Spectrum Disorders [Texte imprimé et/ou numérique] / Genichi SUGIHARA, Auteur ; Kenji J. TSUCHIYA, Auteur ; Nori TAKEI, Auteur . - 2008 . - p.1998-1999. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 38-10 (November 2008) . - p.1998-1999 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1007/s10803-008-0638-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=642

Enzymes in the glutamate-glutamine cycle in the anterior cingulate cortex in postmortem brain of subjects with autism / Chie SHIMMURA in Molecular Autism, (March 2013)  

Public ISBD [article]  inMolecular Autism > (March 2013) . - 7 p. Titre : Enzymes in the glutamate-glutamine cycle in the anterior cingulate cortex in postmortem brain of subjects with autism Type de document : Texte imprimé et/ou numérique Auteurs : Chie SHIMMURA, Auteur ; Katsuaki SUZUKI, Auteur ; Yasuhide IWATA, Auteur ; Kenji J. TSUCHIYA, Auteur ; Koji OHNO, Auteur ; Hideo MATSUZAKI, Auteur ; Keiko IWATA, Auteur ; Yosuke KAMENO, Auteur ; Taro TAKAHASHI, Auteur ; Tomoyasu WAKUDA, Auteur ; Kazuhiko NAKAMURA, Auteur ; Kenji HASHIMOTO, Auteur ; Norio MORI, Auteur Année de publication : 2013 Article en page(s) : 7 p. Langues : Anglais (eng) Mots-clés : Autism  Glutamate  Glutaminase  Glutamate-glutamine cycle  Anterior cingulate cortex Index. décimale : PER Périodiques Résumé : BACKGROUND:Accumulating evidence suggests that dysfunction in the glutamatergic system may underlie the pathophysiology of autism. The anterior cingulate cortex (ACC) has been implicated in autism as well as in glutamatergic neurotransmission. We hypothesized that alterations in the glutamate-glutamine cycle in the ACC might play a role in the pathophysiology of autism.METHODS:We performed Western blot analyses for the protein expression levels of enzymes in the glutamate-glutamine cycle, including glutamine synthetase, kidney-type glutaminase, liver-type glutaminase, and glutamate dehydrogenases 1 and 2, in the ACC of postmortem brain of individuals with autism (n=7) and control subjects (n=13).RESULTS:We found that the protein levels of kidney-type glutaminase, but not those of the other enzymes measured, in the ACC were significantly lower in subjects with autism than in controls.CONCLUSION:The results suggest that reduced expression of kidney-type glutaminase may account for putative alterations in glutamatergic neurotransmission in the ACC in autism. En ligne : http://dx.doi.org/10.1186/2040-2392-4-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202 [article] Enzymes in the glutamate-glutamine cycle in the anterior cingulate cortex in postmortem brain of subjects with autism [Texte imprimé et/ou numérique] / Chie SHIMMURA, Auteur ; Katsuaki SUZUKI, Auteur ; Yasuhide IWATA, Auteur ; Kenji J. TSUCHIYA, Auteur ; Koji OHNO, Auteur ; Hideo MATSUZAKI, Auteur ; Keiko IWATA, Auteur ; Yosuke KAMENO, Auteur ; Taro TAKAHASHI, Auteur ; Tomoyasu WAKUDA, Auteur ; Kazuhiko NAKAMURA, Auteur ; Kenji HASHIMOTO, Auteur ; Norio MORI, Auteur . - 2013 . - 7 p. Langues : Anglais (eng) in Molecular Autism > (March 2013) . - 7 p. Mots-clés : Autism  Glutamate  Glutaminase  Glutamate-glutamine cycle  Anterior cingulate cortex Index. décimale : PER Périodiques Résumé : BACKGROUND:Accumulating evidence suggests that dysfunction in the glutamatergic system may underlie the pathophysiology of autism. The anterior cingulate cortex (ACC) has been implicated in autism as well as in glutamatergic neurotransmission. We hypothesized that alterations in the glutamate-glutamine cycle in the ACC might play a role in the pathophysiology of autism.METHODS:We performed Western blot analyses for the protein expression levels of enzymes in the glutamate-glutamine cycle, including glutamine synthetase, kidney-type glutaminase, liver-type glutaminase, and glutamate dehydrogenases 1 and 2, in the ACC of postmortem brain of individuals with autism (n=7) and control subjects (n=13).RESULTS:We found that the protein levels of kidney-type glutaminase, but not those of the other enzymes measured, in the ACC were significantly lower in subjects with autism than in controls.CONCLUSION:The results suggest that reduced expression of kidney-type glutaminase may account for putative alterations in glutamatergic neurotransmission in the ACC in autism. En ligne : http://dx.doi.org/10.1186/2040-2392-4-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202

Increased plasma lipoprotein lipase activity in males with autism spectrum disorder / Takaharu HIRAI in Research in Autism Spectrum Disorders, 77 (September 2020)  

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Investigation of the serum levels of anterior pituitary hormones in male children with autism / Keiko IWATA in Molecular Autism, (October 2011)  

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N-ethylmaleimide-sensitive factor interacts with the serotonin transporter and modulates its trafficking: implications for pathophysiology in autism / Keiko IWATA in Molecular Autism, (May 2014)  

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Reliability and Validity of Autism Diagnostic Interview-Revised, Japanese Version / Kenji J. TSUCHIYA in Journal of Autism and Developmental Disorders, 43-3 (March 2013)  

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Serum levels of soluble platelet endothelial cell adhesion molecule-1 and vascular cell adhesion molecule-1 are decreased in subjects with autism spectrum disorder / Yosuke KAMENO in Molecular Autism, (June 2013)  

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