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Process perspective
Published in Olaf Dammann, Etiological Explanations, 2020
Or this one, again on autism spectrum disorders (ASDs): For the majority of individuals with ASD, the causes of the disorder remain unknown; however, in up to 25% of cases, a genetic cause can be identified. Chromosomal rearrangements as well as rare and de novo copy-number variants are present in ∼10–20% of individuals with ASD, compared with 1–2% in the general population and/or unaffected siblings. Rare and de novo coding-sequence mutations affecting neuronal genes have also been identified in ∼5–10% of individuals with ASD. (Huguet, Ey, and Bourgeron 2013)
Nutrition and the Microbiome—Implications for Autism Spectrum Disorder
Published in David Perlmutter, The Microbiome and the Brain, 2019
Kirsten Berding, Sharon Donovan
Other bacterial metabolites of amino acids, carbohydrates, and bile acids metabolism were altered in children with ASD, including taurocholenate sulfate, 3-(3-hydroxyphenyl)-3-hydroxypropionic acid (HPHPA), and 5-aminovalerate.46,47 Evidence for a potential role in ASD has been presented for HPHPA, a metabolic by-product of the genus Clostridium, a microbe often implicated in ASD. It has been suggested that HPHPA could induce ASD symptoms by depleting catecholamine concentrations in the brain.47 Moreover, a specific bacterial metabolite (4-ethylphenylsulphate; 4EPS) caused ASD-related behaviors in an animal model of ASD.32
Exploring the types and manifestation of disorders
Published in Jane Hanley, Mark Williams, Fathers and Perinatal Mental Health, 2019
Essentially ASD is a developmental disability which is characterised by difficulty with impaired cognitive functioning and sensory processing behaviour. This may seriously impede communication and social relationships. Around 15% of those with ASD have average or above average intelligence, 25%–35% have borderline functioning, whilst others have difficulty in all areas of functioning.
Profiling plasma levels of thiamine and histamine in Jordanian children with autism spectrum disorder (ASD): potential biomarkers for evaluation of ASD therapies and diet
Published in Nutritional Neuroscience, 2023
Ayat Hussein B. Rashaid, Mazin Taha Alqhazo, Shreen Deeb Nusair, James B. Adams, Mahmoud Ahmad Bashtawi, O’la Al-Fawares
Neurotransmitters have important effects on brain growth, motor skills, memory, and behavior [9]. Abnormal levels of neurotransmitters could disturb brain development, nerve cell migration, differentiation, and synaptogenesis [10,11]. Thiamine (vitamin B1) is required for all tissues and is concentrated in the liver, heart, kidneys, skeletal muscles and brain [12]. The active form of thiamine is thiamine diphosphate that serves as a cofactor for several enzymes which act primarily in carbohydrate catabolism, and in the biosynthesis of the neurotransmitter acetylcholine [13]. These enzymes are also involved in the antioxidant defense system [12]. Major thiamine uptake occurs by the small intestine via the saturable high transport system [12]. Thiamine deficiency in humans mainly affects the cardiovascular and the nervous system, resulting in a number of pathological conditions such as Wernicke-Korsakoff syndrome, peripheral vasodilation, biventricular myocardial failure, and cerebellar degeneration [12]. Other neuropathology includes bilateral hemorrhagic and necrotic lesions brainstem, diencephalon and cerebellum [12]. Thiamine supplementation can reverse some of these signs but not the severe defects in memory and cognition [12]. In a previous study, thiamine tetrahydrofurfuryl disulfide (TTFD) was found to have a beneficial clinical effect in children with ASD, since 8 out of 10 children involved in the study were clinically improved following TTFD intake [14]. However, thiamine levels were found to be similar in ASD vs. controls in children in the US [15].
Novel alterations of CC2D1A as a candidate gene in a Turkish sample of patients with autism spectrum disorder
Published in International Journal of Neuroscience, 2022
Elif Funda Sener, Muge Gulcihan Onal, Fatma Dal, Ufuk Nalbantoglu, Yusuf Ozkul, Halit Canatan, Didem Behice Oztop
Autism spectrum disorder (ASD) is a heterogeneous and complex neurodevelopmental disorder with early onset in childhood; the spectrum of disorder is recognized in Diagnostic and Statistical Manual of Mental Disorders V (DSM-V) [1–3]. ASD diagnosis includes impairments in social interactions and in both verbal and nonverbal communication, and repetitive, restricted stereotypical behaviors and interests [4,5]. ASD is a highly complex and heritable neuropsychiatric disease, but its genetic etiology remains unknown [6]. Over the past five years, next-generation sequencing (NGS) of large ASD cohorts has radically changed the gene discovery [7,8]. Currently, approximately ∼1000 genes are related to be involved in ASD pathology [9]. Although common genetic variants have been shown to pose a risk for this disease, ASD is often associated with rare mutations, which partly show a genetic structure partially similar to intellectual disability (ID). Since ASD is associated with ID in 30–50% of cases, these disorders may not be genetically different [10–12]. However, it is not clear how mutations in the same gene may have different results, from severe ID with significant social defects to protected intellectual function.
Salmonella enterica Typhimurium engineered for nontoxic systemic colonization of autochthonous tumors
Published in Journal of Drug Targeting, 2021
Lance B. Augustin, Liming Milbauer, Sara E. Hastings, Arnold S. Leonard, Daniel A. Saltzman, Janet L. Schottel
Bacterial strains, including relevant genotypes and sources are listed in Table 1. S. Typhimurium strain VNP20009 was obtained from the American Type Culture Collection (ATCC #202165). Strain SL3261 was obtained from the Salmonella Genetic Stock Centre (SGSC #439). Strain BCT1 was constructed by deletion of the aspartate-semialdehyde dehydrogenase (asd) gene from the chromosome of SL3261 using the phage λ Red recombinase method [22] and two PCR primers DSfwd and DSrev (Table 2). When measuring tumour colonisation, the bacteria were transformed with plasmids that contain the lux operon [23] for bioluminescence. S. Typhimurium strain BCT2 was constructed by deleting the fliC, fljB, fimH, and rfaL genes from χ11091 [24], and introducing a single nucleotide change into the pgtE promoter in the χ11091 chromosome. Oligonucleotide primers used to introduce these mutations into χ11091 by the DIRex method [25] are listed in Table 2.