In this study, we analyzed the distribution of HLA haplotypes among children with autism spectrum disorder (ASD), with and without regression from Sweden and observed that HLA-DPA1*01-DPB1*04 sub-haplotype was less represented in patients with regressive autism as compared with those without regression.
These results show for the first time that hyperexcitability and hyperplasticity disrupt signal transfer in the granular layer of IB2 KO mice, supporting cerebellar involvement in the pathogenesis of ASD.<b>SIGNIFICANCE STATEMENT</b> This article shows for the first time a complex set of alterations in the cerebellum granular layer of a mouse model [IB2 (Islet Brain-2) KO] of autism spectrum disorders.
Symptomatic mice presenting ASD-like behavior showed decreased levels of GABA pathway proteins such as GAD65/67 and VGAT and altered ratios of the glutamate receptor subunits GluR1/GluR2 in males and NR2A/NR2B in females.
The <i>SYTL4</i> gene is known to directly interact with several members of the RAB family of genes, such as, <i>RAB27A, RAB27B, RAB8A,</i> and <i>RAB3A</i> which are known autism spectrum disorder genes.
Receiver operating characteristic (ROC) analysis and predictiveness curves showed that each of TGF-β2, HSP70 or H-PGDS alone could not be used as a predictive neuroinflammatory biomarker for ASD.
We describe a 7-year-old male with high functioning autism spectrum disorder (ASD) and maternally-inherited rare missense variant of Synaptotagmin-like protein 4 (<i>SYTL4)</i> gene (Xq22.1; c.835C>T; p.Arg279Cys) and an unknown missense variant of Transmembrane protein 187 (<i>TMEM187</i>) gene (Xq28; c.708G>T; p. Gln236His).
Thirty-eight studies with total of 2487 participants (1393 patients with ASD and 1094 control subjects) were included in the meta-analysis; 13 for interferon (IFN)-γ, 17 for interleukin (IL)-1β, 22 for IL-6, 19 for tumor necrosis factor (TNF)-α, 4 for IL-1α, 6 for IL-2, 4 for IL-7, 8 for IL-8, 14 for IL-12, 3 for IL-15, 12 for IL-17, 3 for IL-18, 3 for IL-2 receptor, 3 for TNF-β, and 3 for IL-23.
Changes in major C1 metabolites, such as the ratios between betaine/choline and SAM/SAH in the cerebral-cortex, were associated with ASD-like behavior.
Thus, gain of axon branching due to giant ankB-deficiency/mutation is a candidate cellular mechanism to explain aberrant structural connectivity and penetrant behavioral consequences in mice as well as humans bearing ASD-related <i>ANK2</i> mutations.
We found a moderate decrease in plasma levels of IL-10 (SMD = -0.59) and a small decrease in serum levels of IL-1Ra (SMD = -0.25) in patients with ASD.
Specifically, rpS6, p-eIF4E, TSC1 and p-MNK1 expression discriminated patients according to their clinical diagnosis, suggesting that components of protein synthesis signalling pathways might constitute a molecular signature of clinical severity in autism spectrum disorder.
Further research, on a large scale, is needed to evaluate if the cognitive improvement of ASD children after AIT is related or not connected to the up-regulation of GDNF.
The <i>SYTL4</i> gene is known to directly interact with several members of the RAB family of genes, such as, <i>RAB27A, RAB27B, RAB8A,</i> and <i>RAB3A</i> which are known autism spectrum disorder genes.
MBOAT7 gene pathogenic variants are a newly discovered and rare cause for intellectual disability, autism spectrum disorder (ASD), seizures, truncal hypotonia, appendicular hypertonia, and below average head sizes (ranging from -1 to -3 standard deviations).
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.
Specifically, rpS6, p-eIF4E, TSC1 and p-MNK1 expression discriminated patients according to their clinical diagnosis, suggesting that components of protein synthesis signalling pathways might constitute a molecular signature of clinical severity in autism spectrum disorder.
We generated and characterized a line of Dock4 knockout (KO) mice, which intriguingly displayed a series of ASD-like behaviors, including impaired social novelty preference, abnormal isolation-induced pup vocalizations, elevated anxiety, and perturbed object and spatial learning.