Article
Behavioral Sciences
Diangang Fang, Binrang Yang, Peng Wang, Tong Mo, Yungen Gan, Guohua Liang, Rong Huang, Hongwu Zeng
Summary: This study investigated the role and underlying mechanism of the SNAP-25 MnlI variant in cognitive impairment and brain functions in boys with ADHD. The results showed that TT homozygotes had higher WM capacity and ReHo values for the left mPFC compared to G-allele carriers. However, the WM capacity in the G-allele carrier group was negatively correlated with the peak ReHo value for the left mPFC.
BRAIN AND BEHAVIOR
(2022)
Article
Neurosciences
Wenxian Huang, Ahmed Ameen Fateh, Yilin Zhao, Hongwu Zeng, Binrang Yang, Diangang Fang, Linlin Zhang, Xianlei Meng, Muhammad Hassan, Feiqiu Wen
Summary: This study aimed to investigate the association between the synaptosomal-associated protein 25 (SNAP-25) gene and hippocampal functional connectivity in attention-deficit/hyperactivity disorder (ADHD). The results revealed that variations in the SNAP-25 gene were related to different patterns of hippocampal functional connectivity in ADHD patients, providing new insights for ADHD imaging biomarkers.
FRONTIERS IN HUMAN NEUROSCIENCE
(2023)
Article
Biochemistry & Molecular Biology
Peng Wang, Yanchufei Zhang, Zihui Wang, Anyong Yang, Yuting Li, Qipeng Zhang
Summary: miR-128, as a key regulator of neurotransmission, plays an important role in epilepsy pathology. Its overexpression or inhibition can affect seizure occurrence, making it a potential candidate molecular target for epilepsy therapy.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2021)
Article
Behavioral Sciences
Jie Li, Wen-Jie Yan, Yan Wu, Xin-Xin Tian, Yi-Wen Zhang
Summary: This study investigated the interaction between SNAP-25 gene polymorphisms and changes in brain function in children with ADHD after MPH treatment. The results suggest that different genotypes can affect the brain hemodynamic responses after MPH treatment and the improvement of ADHD symptoms.
FRONTIERS IN BEHAVIORAL NEUROSCIENCE
(2022)
Article
Clinical Neurology
Yousra El Ghaleb, Pauline E. Schneeberger, Monica L. Fernandez-Quintero, Stefanie M. Geisler, Simone Pelizzari, Abeltje M. Polstra, Johanna M. van Hagen, Jonas Denecke, Marta Campiglio, Klaus R. Liedl, Cathy A. Stevens, Richard E. Person, Stefan Rentas, Eric D. Marsh, Laura K. Conlin, Petronel Tuluc, Kerstin Kutsche, Bernhard E. Flucher
Summary: T-type calcium channels play a crucial role in regulating neuronal activity and are associated with various physiological processes. Mutations in CACNA1I gene, encoding the Ca(v)3.3 channel, have been found in patients with neurodevelopmental phenotypes, affecting channel function and leading to neuronal hyper-excitability. The gain-of-function mutations in Ca(v)3.3 channels may contribute to a spectrum of neurodevelopmental disorders, ranging from mild cognitive impairment to severe developmental delay with epilepsy.
Article
Psychology, Multidisciplinary
Merete G. Oie, Kjetil Sundet, Elisabeth Haug, Pal Zeiner, Ole Klungsoyr, Bjorn R. Rund
Summary: The study compared EOS, ADHD, and a healthy control group on cognitive tests over 25 years, finding cognitive stagnation in EOS group from T1 to T2 but significant improvement from T2 to T3, while the ADHD group consistently improved over the study period, supporting a maturational delay hypothesis for ADHD.
FRONTIERS IN PSYCHOLOGY
(2021)
Article
Medicine, Research & Experimental
Simone Agostini, Roberta Mancuso, Andrea Saul Costa, Franca Rosa Guerini, Fabio Trecate, Rossella Miglioli, Elisabetta Menna, Beatrice Arosio, Mario Clerici
Summary: This study investigated the role of SNAP-25 in sarcopenia and identified SNAP-25-associated miRNAs as potential circulating biomarkers for the rehabilitative outcome of sarcopenia. Results showed that the SNAP-25 rs363050 AA genotype was more common in sarcopenic patients, with miR-451a being significantly up-regulated before rehabilitation. Rehabilitation led to significant changes in miRNA expression, with some up-regulated and others down-regulated, particularly miR-451a which was associated with improvement in muscle-skeletal function.
JOURNAL OF TRANSLATIONAL MEDICINE
(2021)
Article
Multidisciplinary Sciences
Chen-Wei Tsai, Tsung-Yun Liu, Fan-Yi Chao, Yung-Chi Tu, Madison X. Rodriguez, Anna M. Van Keuren, Zhiwei Ma, John Bankston, Ming-Feng Tsai
Summary: The mitochondrial calcium uniporter is a Ca2+ channel that imports cytoplasmic Ca2+ into the mitochondrial matrix to regulate cell bioenergetics, intracellular Ca2+ signaling, and apoptosis. The uniporter contains the pore-forming MCU subunit, an auxiliary EMRE protein, and the regulatory MICU1/MICU2 subunits. Structural and biochemical studies have suggested that MICU1 gates MCU by blocking/unblocking the pore. However, mitoplast patch-clamp experiments argue that MICU1 does not block, but instead potentiates MCU via allosteric mechanisms.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Psychology, Developmental
Himani Mahesh Joshi, Mubashir Angolkar
Summary: The study found that the prevalence rate of ADHD among primary school children in Belagavi, India is 5.76%, with 3.8% among girls and 1.9% among boys. This highlights the importance of early detection of ADHD in children to plan interventions for such cases.
JOURNAL OF ATTENTION DISORDERS
(2021)
Article
Psychiatry
Xia Huang, Hui-Qin Li, Alan Simpson, Jia-Jun Xu, Wan-Jie Tang, Yuan-Yuan Li
Summary: This study aimed to understand the differences in scores among fathers, mothers, and teachers when using the SNAP-IV scale and explore the differences in scoring results under different scoring methods. The results showed differences in scores among the three groups, and the differences showed inconsistent trends across different subscales. The familiarity of parents and teachers with the patients did not affect the differences in their scores, and comprehensive considerations should be made from both the scorer and symptom dimensions.
FRONTIERS IN PSYCHIATRY
(2023)
Review
Clinical Neurology
Xu Zhou, Zengqiang Chen, Lin Xiao, Yanting Zhong, Yang Liu, Jianhao Wu, Hua Tao
Summary: A delicate balance between excitatory and inhibitory signals in the brain is crucial for biological activities. Disruption of this balance can lead to neurological disorders such as epilepsy. Calcium dysregulation is found to underlie epileptic seizures, and various molecular components are involved in maintaining intracellular calcium homeostasis. Calcium-binding proteins act as calcium reservoirs and participate in cellular functions, providing an additional layer of defense. Stroke is the most common environmental cause of acquired epilepsy in older adults, and preventing calcium disruption due to reperfusion injury can be an effective way to treat acute symptomatic seizures and reduce the risk of acquired poststroke epilepsy.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
(2022)
Article
Biology
Tianzhi Li, Qiqi Cheng, Shen Wang, Cong Ma
Summary: Exocytosis of secretory vesicles relies on the interaction between Rabphilin 3A and SNAP-25, which promotes SNARE complex assembly and vesicle docking and fusion with the plasma membrane. This interaction is mediated by the N-terminal Rab-binding domain and C-terminal C(2)AB domain of Rabphilin 3A, as well as the C2B bottom alpha-helix of Rabphilin 3A and the N-peptide region of SNAP-25.
Review
Physiology
Kunal R. Shah, Xin Guan, Jiusheng Yan
Summary: Ion channels can form macromolecular signaling complexes to ensure accurate signal transduction. The BK channel limits increases in [Ca2+]i levels through K+ efflux and rapid membrane repolarization, serving as a negative feedback regulator.
FRONTIERS IN PHYSIOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Hueng-Chuen Fan, Kuo-Liang Chiang, Kuang-Hsi Chang, Chuan-Mu Chen, Jeng-Dau Tsai
Summary: Comorbidities are common in children with epilepsy, and ADHD is one of the most prevalent comorbidities. The burden of ADHD in children with epilepsy is high and can negatively impact their clinical outcomes, psychosocial aspects, and quality of life. Stimulants have shown effectiveness and safety in treating comorbid ADHD, but further research is needed to establish their safety in randomized, double-blinded, placebo-controlled trials.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Behavioral Sciences
Kim E. Ono, Donald J. Bearden, Susan M. Lee, Cierra Moss, Ammar Kheder, Ivana Cernokova, Daniel L. Drane, Satyanarayana Gedela
Summary: Attention Deficit Hyperactivity Disorder (ADHD) is common in pediatric epilepsy patients, and treating ADHD in this population can be challenging. Stimulant medication is the frontline treatment, but there are concerns about adding medication to epilepsy regimens. Non-medication treatments, such as psychosocial interventions and ketogenic diet, have also shown effectiveness. This review provides a comprehensive guide for clinicians on ADHD interventions for pediatric epilepsy patients.
EPILEPSY & BEHAVIOR
(2022)
Article
Biochemistry & Molecular Biology
Nicole Scott-Hewitt, Fabio Perrucci, Raffaella Morini, Marco Erreni, Matthew Mahoney, Agata Witkowska, Alanna Carey, Elisa Faggiani, Lisa Theresia Schuetz, Sydney Mason, Matteo Tamborini, Matteo Bizzotto, Lorena Passoni, Fabia Filipello, Reinhard Jahn, Beth Stevens, Michela Matteoli
Review
Cell Biology
Giuliana Fossati, Michela Matteoli, Elisabetta Menna
Correction
Microbiology
Elsa Ghirardini, Elena Restelli, Raffaella Morini, Ilaria Bertani, Davide Ortolan, Fabio Perrucci, Davide Pozzi, Michela Matteoli, Roberto Chiesa
Article
Medicine, Research & Experimental
Lara Pizzamiglio, Elisa Focchi, Clara Cambria, Luisa Ponzoni, Silvia Ferrara, Francesco Bifari, Genni Desiato, Nicoletta Landsberger, Luca Murru, Maria Passafaro, Mariaelvina Sala, Michela Matteoli, Elisabetta Menna, Flavia Antonucci
Summary: This study demonstrates the role of ATM in the pathogenesis of autism, showing how abnormal expression of ATM affects the development of the GABAergic system and leads to behavioral impairments. Treatment with the specific ATM kinase inhibitor KU can normalize molecular, functional, and behavioral defects in mouse models of autism, supporting the potential of ATM inhibition in the pharmacological development for autism spectrum disorders.
Editorial Material
Medicine, Research & Experimental
Gianluigi Condorelli, Michela Matteoli
Summary: The recent study suggests a potential link between heart failure-induced cognitive decline and epigenetic changes affecting gene expression in hippocampal neurons.
EMBO MOLECULAR MEDICINE
(2021)
Editorial Material
Immunology
Michela Matteoli, Davide Pozzi
Summary: The article discusses how the immune system affects brain activity by activating microglia, ultimately leading to the induction of negative affective states.
Review
Immunology
Raffaella Morini, Matteo Bizzotto, Fabio Perrucci, Fabia Filipello, Michela Matteoli
Summary: The role of microglia in controlling synapse homeostasis is increasingly recognized by the scientific community, with potential therapeutic implications in conditions like schizophrenia and Alzheimer's Disease. Methodological approaches to investigate microglial synaptic engulfment include various in vitro assays and co-cultures of microglia and neurons, requiring further validation in mice brain for representative in vivo results. This review aims to analyze the technical approaches to studying microglia-mediated phagocytosis of neuronal and synaptic substrates in critical developmental time windows.
FRONTIERS IN IMMUNOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Marco Rasile, Eliana Lauranzano, Filippo Mirabella, Michela Matteoli
Summary: Infections during pregnancy and the perinatal period can lead to neurodevelopmental disorders in offspring, with potential mechanisms including defects in neuronal migration, impaired spine and synaptic development, as well as dysfunction of the neurovascular unit. Research in these areas may help identify promising research directions and provide valuable insights for current and future COVID-19 longitudinal studies.
Article
Biochemistry & Molecular Biology
V Zerbi, M. Pagani, M. Markicevic, M. Matteoli, D. Pozzi, M. Fagiolini, Y. Bozzi, A. Galbusera, Ml Scattoni, G. Provenzano, A. Banerjee, F. Helmchen, M. A. Basson, J. Ellegood, J. P. Lerch, M. Rudin, A. Gozzi, N. Wenderoth
Summary: The study reveals that Autism Spectrum Disorder (ASD) is characterized by diverse and highly heterogeneous abnormalities in brain connectivity, with different etiologies causing a broad spectrum of connectional abnormalities that can be classified into four subtypes with discrete signatures of network dysfunction.
MOLECULAR PSYCHIATRY
(2021)
Article
Oncology
Elisabetta Stanzani, Leire Pedrosa, Guillaume Bourmeau, Oceane Anezo, Aleix Noguera-Castells, Anna Esteve-Codina, Lorena Passoni, Michela Matteoli, Nuria de la Iglesia, Giorgio Seano, Fina Martinez-Soler, Avelina Tortosa
Summary: The study reveals the crucial role of integrin a6 in controlling stemness and radiotherapy resistance in different molecular subtypes of glioblastoma stem-like cells. Inhibition of integrin a6 can potentially limit malignant characteristics and tumor relapse in both GSCs subtypes, highlighting its importance in improving patient outcomes.
Correction
Biochemistry & Molecular Biology
V. Zerbi, M. Pagani, M. Markicevic, M. Matteoli, D. Pozzi, M. Fagiolini, Y. Bozzi, A. Galbusera, M. L. Scattoni, G. Provenzano, A. Banerjee, F. Helmchen, M. A. Basson, J. Ellegood, J. P. Lerch, M. Rudin, A. Gozzi, N. Wenderoth
MOLECULAR PSYCHIATRY
(2022)
Article
Cell Biology
Federica Scaroni, Caterina Visconte, Maria Serpente, Maria Teresa Golia, Martina Gabrielli, Marijn Huiskamp, Hanneke E. Hulst, Tiziana Carandini, Milena De Riz, Anna Pietroboni, Emanuela Rotondo, Elio Scarpini, Daniela Galimberti, Charlotte E. Teunissen, Maureen van Dam, Brigit A. de Jong, Chiara Fenoglio, Claudia Verderio
Summary: This study identifies miR-150-5p and let-7b-5p packaged in blood myeloid EVs as possible biomarkers for cognitive deficits in MS.
Article
Biochemistry & Molecular Biology
Marco Rasile, Eliana Lauranzano, Elisa Faggiani, Margherita M. Ravanelli, Federico S. Colombo, Filippo Mirabella, Irene Corradini, Maria L. Malosio, Antonella Borreca, Elisa Focchi, Davide Pozzi, Toni Giorgino, Isabella Barajon, Michela Matteoli
Summary: This study reports that exposure of pregnant mice to an immunostimulant called Poly I:C during early fetal development can lead to abnormal brain vessels and intracerebral hemorrhages in the offspring, specifically in males. The researchers found that this prenatal infection model induces the production of TGF-beta 1, which alters the expression of certain proteins in brain endothelial cells and leads to low pericyte coverage, increasing the risk of hemorrhagic events in adult offspring. These findings provide a mechanistic framework for understanding the association between intragravidic infections and anomalies of the neural vasculature, which may contribute to neuropsychiatric disorders.
Review
Biochemistry & Molecular Biology
Michela Matteoli, Davide Pozzi, Matteo Fossati, Elisabetta Menna
Summary: In the last two decades, the concept of synaptopathy has been widely used to emphasize that impairments of synaptic structure and function are the main determinant of brain disorders, including neurodevelopmental disorders. The understanding of the genetic architecture of these disorders has highlighted the convergence of genetic risk factors on synapse-related molecular pathways. However, the involvement of environmental factors and inflammation has also been recognized, with immune molecules contributing to synaptic dysfunction. This review discusses the concept of immune-synaptopathy and recent evidence suggesting a bidirectional link between genetic architecture and maternal immune system activation in modulating brain development.
Review
Biochemistry & Molecular Biology
Maria Teresa Golia, Martina Gabrielli, Claudia Verderio
Summary: The activation of P2X(7) receptor is closely associated with the release of extracellular vesicles, which regulate non-classical protein secretion and transfer bioactive components to other cells. This process includes the participation of misfolded proteins in inflammatory and neurodegenerative diseases.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)