scholarly journals The central nervous system patterning gene variants associated with clinical symptom severity of autism spectrum disorders

2017 ◽  
Vol 116 (10) ◽  
pp. 755-764 ◽  
Author(s):  
Yi-Ling Chien ◽  
Yu-Yu Wu ◽  
Hsin-I Chen ◽  
Wen-Che Tsai ◽  
Yen-Nan Chiu ◽  
...  
2011 ◽  
Vol 2011 ◽  
pp. 1-6 ◽  
Author(s):  
Thomas Tallberg ◽  
Jan Dabek ◽  
Raija Hallamaa ◽  
Faik Atroshi

The central role performed by billions of vital central nervous system (CNS) lipids “lipidomics” in medical physiology is usually overlooked. A metabolic deficiency embracing these vital lipids can form the aetiology for a variety of diseases. CNS lipids regulate embryogenesis, cell induction, mental balance by preventing autism spectrum disorders, depression, burn-out syndromes like posttraumatic stress disease PTSD, by guarding normal immunity, treating sterile inflammatory diatheses with a titanium containing lymphopoietic CNS lipid component. The propaganda driving for unphysiological fat-free diets is dangerous and can cause serious health problems for a whole generation. This article presents a broad list of various mental and motor bodily functions of which the healthy function depends on these vital CNS lipids. A rigorous fat-free diet can provoke these metabolic lipid deficiencies but they can fortunately be compensated by dietary supplementation, but not by pharmacologic treatment.


2020 ◽  
Vol 31 (1) ◽  
pp. 681-693 ◽  
Author(s):  
Emmanuel Peng Kiat Pua ◽  
Phoebe Thomson ◽  
Joseph Yuan-Mou Yang ◽  
Jeffrey M Craig ◽  
Gareth Ball ◽  
...  

Abstract The neurobiology of heterogeneous neurodevelopmental disorders such as Autism Spectrum Disorders (ASD) is still unknown. We hypothesized that differences in subject-level properties of intrinsic brain networks were important features that could predict individual variation in ASD symptom severity. We matched cases and controls from a large multicohort ASD dataset (ABIDE-II) on age, sex, IQ, and image acquisition site. Subjects were matched at the individual level (rather than at group level) to improve homogeneity within matched case–control pairs (ASD: n = 100, mean age = 11.43 years, IQ = 110.58; controls: n = 100, mean age = 11.43 years, IQ = 110.70). Using task-free functional magnetic resonance imaging, we extracted intrinsic functional brain networks using projective non-negative matrix factorization. Intrapair differences in strength in subnetworks related to the salience network (SN) and the occipital-temporal face perception network were robustly associated with individual differences in social impairment severity (T = 2.206, P = 0.0301). Findings were further replicated and validated in an independent validation cohort of monozygotic twins (n = 12; 3 pairs concordant and 3 pairs discordant for ASD). Individual differences in the SN and face-perception network are centrally implicated in the neural mechanisms of social deficits related to ASD.


2019 ◽  
Vol 20 (9) ◽  
pp. 2134 ◽  
Author(s):  
Ann Katrin Sauer ◽  
Juergen Bockmann ◽  
Konrad Steinestel ◽  
Tobias M. Boeckers ◽  
Andreas M. Grabrucker

Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders characterized by deficits in social interaction and communication, and repetitive behaviors. In addition, co-morbidities such as gastro-intestinal problems have frequently been reported. Mutations and deletion of proteins of the SH3 and multiple ankyrin repeat domains (SHANK) gene-family were identified in patients with ASD, and Shank knock-out mouse models display autism-like phenotypes. SHANK3 proteins are not only expressed in the central nervous system (CNS). Here, we show expression in gastrointestinal (GI) epithelium and report a significantly different GI morphology in Shank3 knock-out (KO) mice. Further, we detected a significantly altered microbiota composition measured in feces of Shank3 KO mice that may contribute to inflammatory responses affecting brain development. In line with this, we found higher E. coli lipopolysaccharide levels in liver samples of Shank3 KO mice, and detected an increase in Interleukin-6 and activated astrocytes in Shank3 KO mice. We conclude that apart from its well-known role in the CNS, SHANK3 plays a specific role in the GI tract that may contribute to the ASD phenotype by extracerebral mechanisms.


2017 ◽  
Vol 01 (01) ◽  
pp. E36-E47
Author(s):  
Steffen Pfeuffer ◽  
Christine Strippel ◽  
Heinz Wiendl

AbstractNeuromyelitis optica spectrum disorders (NMOSD) represent a rare subset of chronic-inflammatory diseases of the central nervous system. Despite heterogeneities in disease activity, there is a higher degree of disability accumulation in NMOSD patients compared to MS patients. According to the revised diagnostic criteria, a recommendation was made to abandon the term NMO and to summarize these conditions as NMOSD. Clinical presentation of NMOSD patients in most cases is optic neuritis and transverse myelitis but nevertheless, NMOSD can affect most parts of the central nervous system (e. g. brainstem and hypothalamus). Originally characterized as AQP4-antibody-dependent disease, it has recently been discussed whether conditions with presence of antibodies against myelin oligodendrocyte glycoprotein (MOG) belong to the family of NMOSD. Due to the severity of the disease with often devastating relapses, systematic therapy is necessary. Usually, immunosuppressants or monoclonal antibodies with anti-inflammatory properties are used. Recently, four substances entered clinical testing for treatment of NMOSD.


2016 ◽  
Vol 7 ◽  
Author(s):  
Takashi X. Fujisawa ◽  
Shota Nishitani ◽  
Ryoichiro Iwanaga ◽  
Junko Matsuzaki ◽  
Chisato Kawasaki ◽  
...  

Gene ◽  
2014 ◽  
Vol 553 (1) ◽  
pp. 24-30 ◽  
Author(s):  
Jaqueline Bohrer Schuch ◽  
Diana Muller ◽  
Renata Giuliani Endres ◽  
Cleonice Alves Bosa ◽  
Dânae Longo ◽  
...  

2021 ◽  
Vol 22 (18) ◽  
pp. 10028
Author(s):  
Julia Doroszkiewicz ◽  
Magdalena Groblewska ◽  
Barbara Mroczko

The gut microbiome has attracted increasing attention from researchers in recent years. The microbiota can have a specific and complex cross-talk with the host, particularly with the central nervous system (CNS), creating the so-called “gut–brain axis”. Communication between the gut, intestinal microbiota, and the brain involves the secretion of various metabolites such as short-chain fatty acids (SCFAs), structural components of bacteria, and signaling molecules. Moreover, an imbalance in the gut microbiota composition modulates the immune system and function of tissue barriers such as the blood–brain barrier (BBB). Therefore, the aim of this literature review is to describe how the gut–brain interplay may contribute to the development of various neurological disorders, combining the fields of gastroenterology and neuroscience. We present recent findings concerning the effect of the altered microbiota on neurodegeneration and neuroinflammation, including Alzheimer’s and Parkinson’s diseases, as well as multiple sclerosis. Moreover, the impact of the pathological shift in the microbiome on selected neuropsychological disorders, i.e., major depressive disorders (MDD) and autism spectrum disorder (ASD), is also discussed. Future research on the effect of balanced gut microbiota composition on the gut–brain axis would help to identify new potential opportunities for therapeutic interventions in the presented diseases.


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