Pubmed du 08/06/19

samedi 8 juin 2019

1. Castora FJ. Mitochondrial function and abnormalities implicated in the pathogenesis of ASD. Prog Neuropsychopharmacol Biol Psychiatry ;2019 (Jun 8) ;92:83-108.

Mitochondria are the powerhouse that generate over 90% of the ATP produced in cells. In addition to its role in energy production, the mitochondrion also plays a major role in carbohydrate, fatty acid, amino acid and nucleotide metabolism, programmed cell death (apoptosis), generation of and protection against reactive oxygen species (ROS), immune response, regulation of intracellular calcium ion levels and even maintenance of gut microbiota. With its essential role in bio-energetic as well as non-energetic biological processes, it is not surprising that proper cellular, tissue and organ function is dependent upon proper mitochondrial function. Accordingly, mitochondrial dysfunction has been shown to be directly linked to a variety of medical disorders, particularly neuromuscular disorders and increasing evidence has linked mitochondrial dysfunction to neurodegenerative and neurodevelopmental disorders such as Alzheimer’s Disease (AD), Parkinson’s Disease (PD), Rett Syndrome (RS) and Autism Spectrum Disorders (ASD). Over the last 40years there has been a dramatic increase in the diagnosis of ASD and, more recently, an increasing body of evidence indicates that mitochondrial dysfunction plays an important role in ASD development. In this review, the latest evidence linking mitochondrial dysfunction and abnormalities in mitochondrial DNA (mtDNA) to the pathogenesis of autism will be presented. This review will also summarize the results of several recent `approaches used for improving mitochondrial function that may lead to new therapeutic approaches to managing and/or treating ASD.

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2. Evangelho VGO, Castro HC, Amorim MR. Genetic Tests for Autism : The Challenges in the Laboratory Diagnosis. J Child Neurol ;2019 (Jun 7):883073819852236.

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3. Nagaraju K, Sudeep KS, Kurhekar MP. A cellular automaton model to find the risk of developing autism through gut-mediated effects. Comput Biol Med ;2019 (May 25) ;110:207-217.

BACKGROUND : One of the risk factors for the development of Autism Spectrum Disorder (ASD) is hypothesized to be an imbalance in the gut microbiome. Alterations in the relative numbers of gut microbiota may contribute to such a disruption in normal bacterial diversity. It is assumed that this process may be adequately mirrored for the purpose of the current paper by modeling the dynamic shifts in the numbers of three bacterial species, namely Clostridium, Desulfovibrio, and Bifidobacterium. Such imbalances in the gut microbiome are thought to promote the development of increased gut permeability (the so-called "leaky gut") which in turn is a potential risk factor for the development of ASD. METHODS : We constructed a mathematical model using 2-D Cellular Automata to simulate the growth rates and interactions of three bacterial species, namely Bifidobacterium, Clostridium and Desulfovibrio, with each other and with available nutrients in the gut, and particularly following the introduction of lysozyme into the gut. RESULTS : It was observed from the modeled simulation that increasing or decreasing the population of Clostridium in the gut produces key shifts in the gut microbiome which could potentially increase or decrease the risk of ASD. CONCLUSION : Simulations using our cellular automaton model suggest that it could be useful in predicting the effects produced by alterations to key components of the gut microbiome. In particular, the model demonstrated that the introduction of lysozyme in the gut results in steep reductions in Clostridium growth rate, which in turn could potentially alter the gut microbiome population in such a way as to significantly reduce the risk of developing ASD.

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4. Schuetze M, Cho IYK, Vinette S, Rivard KB, Rohr CS, Ten Eycke K, Cozma A, McMorris C, McCrimmon A, Dewey D, Bray SL. Learning with individual-interest outcomes in Autism Spectrum Disorder. Dev Cogn Neurosci ;2019 (May 28) ;38:100668.

Recent work has suggested atypical neural reward responses in individuals with Autism Spectrum Disorder (ASD), particularly for social reinforcers. Less is known about neural responses to restricted interests and few studies have investigated response to rewards in a learning context. We investigated neurophysiological differences in reinforcement learning between adolescents with ASD and typically developing (TD) adolescents (27 ASD, 31 TD). FMRI was acquired during a learning task in which participants chose one of two doors to reveal an image outcome. Doors differed in their probability of showing liked and not-liked images, which were individualized for each participant. Participants chose the door paired with liked images, but not the door paired with not-liked images, significantly above chance and choice allocation did not differ between groups. Interestingly, participants with ASD made choices less consistent with their initial door preferences. We found a neural prediction-error response at the time of outcome in the ventromedial prefrontal and posterior cingulate cortices that did not differ between groups. Together, behavioural and neural findings suggest that learning with individual interest outcomes is not different between individuals with and without ASD, adding to our understanding of motivational aspects of ASD.

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5. Vicari S, Napoli E, Cordeddu V, Menghini D, Alesi V, Loddo S, Novelli A, Tartaglia M. Copy number variants in autism spectrum disorders. Prog Neuropsychopharmacol Biol Psychiatry ;2019 (Jun 8) ;92:421-427.

In recent years, there has been an explosive increase in genetic studies related to autism spectrum disorder (ASD). This implicated the accumulation of a large amount of molecular data that may be used to verify various hypotheses and models developed to explore the complex genetic component of ASD. Several lines of evidence support the view that structural genomic variation contributes to the pathogenesis of ASD. The introduction of more sophisticated techniques for whole-genome screening, including array comparative genome hybridization and high-resolution single nucleotide polymorphism analysis, has allowed to identify an increasing number of ASD susceptibility loci. Copy number variants (CNVs) are the most common type of structural variation in the human genome and are considered important contributors to the pathogenesis of neurodevelopmental disorders, including ASD. In this review, we describe the accumulated evidence concerning the genetic events associated with ASD, and summarize current knowledge about the clinical relevance of CNVs in these disorders.

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6. Wang Z, Zhang J, Lu T, Zhang T, Jia M, Ruan Y, Zhang D, Li J, Wang L. Replication of previous GWAS hits suggests the association between rs4307059 near MSNP1AS and autism in a Chinese Han population. Prog Neuropsychopharmacol Biol Psychiatry ;2019 (Jun 8) ;92:194-198.

Autism is a complex neurodevelopmental disorder with high heritability. Previous genome-wide association studies (GWAS) demonstrated that some single-nucleotide polymorphisms (SNPs) were significantly associated with autism, while other studies focusing on these GWAS hits showed inconsistent results. Besides, the association between these variants and autism in the Chinese Han population remains unclear. Therefore, this family-based association study was performed in 640 Chinese Han autism trios to investigate the association between autism and 7 SNPs with genome-wide significance in previous GWAS (rs4307059 near MSNP1AS, rs4141463 in MACROD2, rs2535629 in ITIH3, rs11191454 in AS3MT, rs1625579 in MIR137HG, rs11191580 in NT5C2, and rs1409313 in CUEDC2). The results showed a nominal association between the T allele of rs4307059 and autism under both additive model (T>C, Z=2.250, P=.024) and recessive model (T>C, Z=2.109, P=.035). The findings provided evidence that rs4307059 near MSNP1AS might be a susceptibility variant for autism in the Chinese Han population.

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7. Ye Q, Hu GY, Cai YB, Zhang GW, Xu K, Qu T, Gao R. Structural exercise-based intervention for health problems in individuals with autism spectrum disorders : a pilot study. Eur Rev Med Pharmacol Sci ;2019 (May) ;23(10):4313-4320.

OBJECTIVE : Exercise-based intervention promises to be more effective in a structured framework for individuals with autism spectrum disorders (ASD). The aim of this study was to observe changes in behavior of individuals with ASD by investigating their physical status after the structured exercise-based intervention. PATIENTS AND METHODS : The exercise intervention integrated an 8-week exercise program that included aerobic, resistive, and neuromuscular exercises. Body composition and the Autism Treatment Evaluation Checklist (ATEC) were evaluated to assess changes after the exercise-based intervention. RESULTS : After the exercise intervention, the fat mass of individuals with ASD were significantly reduced, and their behavior improved markedly. CONCLUSIONS : This pilot study demonstrated that individuals with ASD require long-term, structured exercise-based intervention, and that such exercise-based intervention is effective for improving their health.

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