Autism spectrum disorder (ASD) is gathering concerns in socially developed countries. ASD is a neuropsychiatric disorder of genetic origin with high prevalence of 1%-2%. The patients with ASD characteristically show impaired social skills. Today, many genetic studies identify numerous susceptible genes and genetic loci associated with ASD. Although some genetic factors can lead to abnormal brain function linked to ASD phenotypes, the pathogenic mechanism of ASD is still unclear. Here, we discuss a new mouse model for ASD as an advanced tool to understand the mechanism of ASD.
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http://dx.doi.org/10.1007/s11427-015-4891-7 | DOI Listing |
Naunyn Schmiedebergs Arch Pharmacol
January 2025
Graduate School of PLA Medical College, Chinese PLA General Hospital and PLA Medical College, 28 Fu Xing Road, Beijing, 100083, China.
Extensive researches illuminate a potential interplay between immune traits and psychiatric disorders. However, whether there is the causal relationship between the two remains an unresolved question. We conducted a two-sample bidirectional mendelian randomization by utilizing summary data of 731 immune cell traits from genome-wide association studies (GCST90001391-GCST90002121)) and 11 psychiatric disorders including attention deficit/hyperactivity disorder (ADHD), anxiety disorder, autism spectrum disorder (ASD), bipolar disorder (BIP), anorexia nervosa (AN), major depressive disorder (MDD), obsessive-compulsive disorder (OCD), Tourette syndrome (TS), post-traumatic stress disorder (PTSD), schizophrenia (SCZ), and substance use disorders (cannabis) (SUD) from the Psychiatric Genomics Consortium (PGC).
View Article and Find Full Text PDFJ Physician Assist Educ
January 2025
Tonya C. George, PhD, MSHS, MSPH, PA-C, DFAAP, is a assistant professor, Doctor of Medical Science Program, School of Health and Rehabilitation Sciences, University of Pittsburgh, Pittsburgh, Philadelphia.
Neurodiversity, encompassing conditions such as autism spectrum disorder, attention-deficit/hyperactivity disorder, and dyslexia, represents a significant and often under-recognized segment of the population, including within science, technology, engineering, mathematics, and medicine fields like medicine. Neurodiverse individuals possess unique skills, including enhanced creativity, analytical thinking, and meticulous attention to detail, which are valuable in health care professions. However, failure to recognize and support these individuals can result in missed opportunities, social isolation, and mental health challenges.
View Article and Find Full Text PDFBiol Open
January 2025
Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Cell fate decisions during cortical development sculpt the identity of long-range connections that subserve complex behaviors. These decisions are largely dictated by mutually exclusive transcription factors, including CTIP2/Bcl11b for subcerebral projection neurons and BRN1/Pou3f3 for intra-telencephalic projection neurons. We have recently reported that the balance of cortical CTIP2-expressing neurons is altered in a mouse model of DDX3X syndrome, a female-biased neurodevelopmental disorder associated with intellectual disability, autism spectrum disorder, and significant motor challenges.
View Article and Find Full Text PDFMol Genet Genomic Med
February 2025
Department of Chemistry and Molecular Biology, Gothenburg University, Gothenburg, Sweden.
Background: SYNGAP1 encodes a Ras/Rap GTPase-activating protein that is predominantly expressed in the brain with the functional roles in regulating synaptic plasticity, spine morphogenesis, and cognition function. Pathogenic variants in SYNGAP1 have been associated with a spectrum of neurodevelopmental disorders characterized by developmental delays, intellectual disabilities, epilepsy, hypotonia, and the features of autism spectrum disorder. The aim of this study was to identify a novel SYNGAP1 gene variant linked to neurodevelopmental disorders and to evaluate the pathogenicity of the detected variant.
View Article and Find Full Text PDFAging Cell
January 2025
Molecular Biology and Genetics Unit, Transcription and Disease Laboratory, Jawaharlal Nehru Centre for Advanced Scientific Research, Bengaluru, India.
SYNGAP1 is a Ras GTPase-activating protein that plays a crucial role during brain development and in synaptic plasticity. Sporadic heterozygous mutations in SYNGAP1 affect social and emotional behaviour observed in intellectual disability (ID) and autism spectrum disorder (ASD). Although neurophysiological deficits have been extensively studied, the epigenetic landscape of SYNGAP1 mutation-mediated intellectual disability is unexplored.
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