In this review, we focus on the role of the Shank family of proteins in autism. In recent years, autism research has been flourishing. With genetic, molecular, imaging and electrophysiological studies being supported by behavioural studies using animal models, there is real hope that we may soon understand the fundamental pathology of autism. There is also genuine potential to develop a molecular-level pharmacological treatment that may be able to deal with the most severe symptoms of autism, and clinical trials are already underway. The Shank family of proteins has been strongly implicated as a contributing factor in autism in certain individuals and sits at the core of the alleged autistic pathway. Here, we analyse studies that relate Shank to autism and discuss what light this sheds on the possible causes of autism.
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http://dx.doi.org/10.1098/rstb.2013.0143 | DOI Listing |
BMJ Case Rep
December 2024
Dermatology, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA
Hydroa vacciniforme lymphoproliferative disorders (HVLPD) fall within the clinical spectrum of chronic active epstein barr virus (EBV) disease (CAEBVD), ranging from localised and/or indolent forms (classic HVLPD) to systemic disease with fever, hepatosplenomegaly and lymphadenopathy (systemic HVLPD). A preadolescent male with 47XYY, multicystic dysplastic kidney, autism spectrum disorder and Attention-deficit/hyperactivity disorder (ADHD) presented with photodistributed non-pruritic, non-painful necrotic papulovesicles accompanied by non-febrile intermittent fatigue and lymphadenopathy. The patient had a history of EBV pneumonia in infancy confirmed by CT scan and was later diagnosed with CAEBV.
View Article and Find Full Text PDFAnal Biochem
December 2024
Pharmaceutical Analytical Chemistry Department, Faculty of Pharmacy, Al-Azhar University, 11751 Nasr City, Cairo, Egypt. Electronic address:
Magnesium is an essential mineral in biological systems and has a significant impact on brain health. Its deficiency has been found to correlate with irregular metabolic processes and neurodevelopmental disorders. The objective of this research was to establish and validate an analytical approach based on the standard addition methodology for determining endogenous magnesium levels in the serum of autistic and healthy children.
View Article and Find Full Text PDFBrain Res
December 2024
Dr. Kiran C. Patel College of Osteopathic Medicine, Nova Southeastern University, Tampa, FL, United States. Electronic address:
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a complex etiology, including genetic and environmental factors. A growing body of evidence (preclinical and clinical studies) implicates a potential role of gut microbiome dysregulation in ASD pathophysiology. This review focuses on the microbial metabolite p-Cresol, produced by certain gut bacteria such as Clostridium, and its potential role in ASD.
View Article and Find Full Text PDFCurr Opin Neurobiol
December 2024
Institute of Molecular Biology, Academia Sinica, Taipei, 11529, Taiwan, ROC. Electronic address:
Autism spectrum disorders (ASD) are substantially heterogeneous neuropsychiatric conditions with over a thousand associated genetic factors and various environmental influences, such as infection and nutrition. Additionally, males are four times more likely than females to be affected. This heterogeneity underscores the need to uncover common molecular features within ASD.
View Article and Find Full Text PDFCell Rep
December 2024
Laboratory of Regenerative Medicine, School of Life Sciences, Tokyo University of Pharmacy and Life Sciences, Hachioji, Tokyo 192-0392, Japan. Electronic address:
During gestation, the choroid plexus (ChP) produces protein-rich cerebrospinal fluid and matures prior to brain development. It is assumed that ChP dysfunction has a profound effect on developmental neuropsychiatric disorders, such as autism spectrum disorder (ASD). However, the mechanisms linking immature ChP to the onset of ASD remain unclear.
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