Article
Biochemistry & Molecular Biology
Galya Monderer-Rothkoff, Nitzan Tal, Marina Risman, Odem Shani, Malka Nissim-Rafinia, Laura Malki-Feldman, Vera Medvedeva, Matthias Groszer, Eran Meshorer, Sagiv Shifman
Summary: Mutations in AUTS2 gene are associated with autism, intellectual disability, and microcephaly. Transition from long to short isoform of AUTS2 is crucial for regulating transcription and neuronal differentiation.
MOLECULAR PSYCHIATRY
(2021)
Article
Neurosciences
Nao Nakagawa-Tamagawa, Emi Kirino, Kohtaroh Sugao, Hidetaka Nagata, Yoshiaki Tagawa
Summary: This study demonstrated that the Cav1.2 I1166T mutation could affect two critical steps during cerebrocortical development, migration and axonal projection, in the mouse brain. This is mediated through Ca2+-dependent pathway downstream of Cav1.2 and beta subunit-interaction.
FRONTIERS IN NEUROSCIENCE
(2021)
Article
Clinical Neurology
Wentong Hong, Pifang Gong, Xinjie Pan, Yitong Liu, Guibo Qi, Congcong Qi, Song Qin
Summary: Kruppel-like Factor 7 (KLF7), a zinc finger transcription factor, plays a critical role in cellular differentiation, tumorigenesis, and regeneration. Mutations in Klf7 are associated with autism spectrum disorder characterized by neurodevelopmental delay and intellectual disability. Our study reveals that KLF7 regulates neurogenesis and neuronal migration during mouse cortical development. Depletion of KLF7 in neural progenitor cells leads to agenesis of the corpus callosum, defects in neurogenesis, and impaired neuronal migration in the neocortex. Transcriptomic profiling analysis identifies p21 and Rac3 as KLF7-regulated genes involved in neuronal differentiation and migration. These findings contribute to our understanding of the potential mechanisms underlying neurological defects associated with Klf7 mutations.
Article
Biochemistry & Molecular Biology
Guodong Chen, Lin Han, Senwei Tan, Xiangbin Jia, Huidan Wu, Yingting Quan, Qiumeng Zhang, Bin Yu, Zhengmao Hu, Kun Xia, Hui Guo
Summary: This study investigates the role of the KMT5B gene in neurodevelopmental disorders, including autism spectrum disorder (ASD), and reveals its essential functions in neuronal development, prenatal neurogenesis, and neuronal migration.
JOURNAL OF GENETICS AND GENOMICS
(2022)
Article
Cell Biology
Yue Zheng, Chen Zhao, Qiulin Song, Lichao Xu, Bo Zhang, Guangda Hu, Xiangfei Kong, Shaowen Li, Xiang Li, Yin Shen, Lenan Zhuang, Min Wu, Ying Liu, Yan Zhou
Summary: Appropriate histone modifications play a crucial role in regulating neuronal fate in neocortical areas and layers. NSD1 methyltransferase controls the area and layer identities of the neocortex. Nsd1 ablation leads to changes in the location of functional areas and aberrant cortico-thalamic-cortical projections.
Article
Neurosciences
Iva Salamon, Geeta Palsule, Xiaobing Luo, Alfonso Roque, Shawn Tucai, Ishan Khosla, Nicole Volk, Wendy Liu, Huijuan Cui, Valentina Dal Pozzo, Petronio Zalamea, Xinfu Jiao, Gabriella D'Arcangelo, Ronald P. Hart, Mladen-Roko Rasin, Megerditch Kiledjian
Summary: Mutations in the gene encoding the scavenger mRNA-decapping enzyme DcpS have been linked to developmental delay and intellectual disability, affecting neuronal differentiation and neurite outgrowth in both human and mouse models. These findings suggest that DcpS plays a crucial role in neural development and further support the association between mRNA metabolism, neocortical pathologies, and intellectual disability.
Article
Biochemistry & Molecular Biology
Jean-Baptiste Brault, Sabine Bardin, Marusa Lampic, Jacopo A. Carpentieri, Laure Coquand, Maxime Penisson, Hugo Lachuer, Guiliana Soraya Victoria, Sarah Baloul, Fatima El Marjou, Gaelle Boncompain, Stephanie Miserey-Lenkei, Richard Belvindrah, Vincent Fraisier, Fiona Francis, Franck Perez, Bruno Goud, Alexandre D. Baffet
Summary: This study reveals that the delamination process of radial glial (RG) cells in the developing neocortex is regulated by the post-Golgi secretory pathway. The transport of RAB6+ vesicles towards the minus ends of microtubules depends on dynein, and the apical determinant Crumbs3 (CRB3) is also transported by dynein. Knockout of RAB6A/A' and RAB6B, as well as LIS1, impairs the apical localization of CRB3 and leads to delamination and ectopic division of aRG cells.
Article
Clinical Neurology
Anna Skupien-Jaroszek, Andrzej A. Szczepankiewicz, Andrzej Rysz, Andrzej Marchel, Ewa Matyja, Wieslawa Grajkowska, Grzegorz M. Wilczynski, Joanna Dzwonek
Summary: In this study, we have observed the dispersion of the neuronal Golgi apparatus (GA) in the human brain of patients with epilepsy and rat brain upon seizures. The changes in GA structure were reversible and could be prevented by BAPTA-AM, suggesting that they are induced by elevated cytosolic Ca2+. These findings indicate that GA fragmentation is involved in aberrant neuronal plasticity processes underlying epilepsy.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2023)
Article
Clinical Neurology
Anna Skupien-Jaroszek, Andrzej A. Szczepankiewicz, Andrzej Rysz, Andrzej Marchel, Ewa Matyja, Wieslawa Grajkowska, Grzegorz M. Wilczynski, Joanna Dzwonek
Summary: This study examined the changes in Golgi apparatus (GA) architecture in epilepsy. The researchers observed GA dispersion in neurons of epilepsy patients and rats with induced seizures. They found that the structural changes of GA were reversible and that enhanced neuronal activity played a role in the Golgi reorganization. The study also revealed the importance of elevated cytosolic Ca2+ in the KA-induced morphological alterations of GA in vitro.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2023)
Article
Cell Biology
Joanna Krzyspiak, Kamran Khodakhah, Jean M. Hebert
Summary: The usefulness of cell transplants in repairing ischemic stroke damage can be limited by their variability. This study found that the size of grafts at stroke sites correlates with ischemic damage, host sex, donor cell maturity, and host age. However, it is not affected by the time of transplant after stroke. A general linear model revealed that graft size is best predicted by stroke severity combined with donor cell maturity.
Article
Neurosciences
Pat Levitt
Summary: The article summarizes research on the diversity at different levels of the nervous system, from molecular to systems, and highlights the impact of emphasizing heterogeneity on contributors in the field of developmental neuroscience.
JOURNAL OF NEUROSCIENCE
(2021)
Article
Biochemistry & Molecular Biology
Runnan Cao, Chujun Lin, Johnie Hodge, Xin Li, Alexander Todorov, Nicholas J. Brandmeir, Shuo Wang
Summary: People evaluate faces rapidly and agree on social trait evaluations. The neural basis for such rapid face evaluation is largely unknown. This study recorded neuronal activity in the human amygdala and hippocampus and found that it was associated with the geometry of a social trait space. The results suggest the existence of a neuronal population code for a comprehensive social trait space in the human brain, which plays a role in spontaneous first impressions and may have implications for abnormal social information processing in neurological and psychiatric disorders.
MOLECULAR PSYCHIATRY
(2022)
Article
Developmental Biology
Shanshan Wu, Tingting Wei, Wenjuan Fan, Yanli Wang, Chaojie Li, Jinbo Deng
Summary: The study investigated the relationships between neocortical lamination and cell cycle by examining various cells in different cell phases in mouse cortices. The results showed that neural stem cells and migrating postmitotic neurons are in different cell cycle phases, while pyramidal cells and CR cells have exited the cell cycle.
INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE
(2021)
Article
Immunology
Hongwei Wang, Xu Wang, Yubin Shen, Yanmin Wang, Tianyun Yang, Jinyuan Sun, Song Liu
Summary: Chronic intermittent hypoxia (CIH) is a characteristic pathological change of obstructive sleep apnea syndrome (OSAS). Inflammation of microglia induced by CIH plays a crucial role in OSAS-associated cognitive dysfunction. SUMO-specific proteases 1 (SENP1) has been implicated in tumor inflammatory microenvironment and cell migration, but its role in CIH-induced neuroinflammation is still unknown.
INTERNATIONAL IMMUNOPHARMACOLOGY
(2023)
Article
Neurosciences
Fiona Francis, Silvia Cappello
Summary: This review highlights the genes, proteins, and subcellular mechanisms influencing cortical neuronal migration, as well as the disrupted mechanisms in a variety of migration disorders. Recent research has shown the significant role of the microtubule cytoskeleton in migrating neurons, with variable impacts revealed in different cell compartments. In addition to microtubules, disruptions of actin cytoskeleton, extracellular matrix, adhesion molecules, and signaling pathways have also been identified as causative factors in cortical neuronal migration dysfunction.
CURRENT OPINION IN NEUROBIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Kazuya Toriumi, Mitsuhiro Miyashita, Kazuhiro Suzuki, Koichi Tabata, Yasue Horiuchi, Hiroaki Ishida, Masanari Itokawa, Makoto Arai
Summary: Methylglyoxal (MG) is a reactive alpha-ketoaldehyde produced as a byproduct of the glycolytic pathway. Recent research has shown that the expression of glyoxalase 1 (GLO1) and the accumulation of MG in the brain are related to the pathogenesis of psychiatric disorders. Therefore, GLO1 may be a potential target for the treatment of these disorders.
Article
Biochemistry & Molecular Biology
Yukiko Nakamura, Takuya Sumi, Osamu Mitani, Takashi Okamoto, Erika Kubo, Kuniharu Masui, Makoto Kondo, Yoshihisa Koyama, Noriyoshi Usui, Shoichi Shimada
Summary: The study found that a drug called SR 57227A can alleviate pain-like behaviors without causing preference behaviors like opioid drugs. This research is important for seeking alternatives to opioids for the treatment of chronic pain.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2022)
Article
Endocrinology & Metabolism
Miyuki Doi, Nanako Nakama, Takuya Sumi, Noriyoshi Usui, Shoichi Shimada
Summary: The study indicates that prenatal exposure to METH leads to dysfunction of fetal insulin production in the pancreas and reduction of glycogen cells in the placental junctional zone, affecting glucose metabolism and having negative effects on fetal development.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Mengwei Li, Noriyoshi Usui, Shoichi Shimada
Summary: Sexual differentiation is a crucial process that leads to sex differences. Understanding the causes and mechanisms behind these differences can provide valuable insights into the development of neurodevelopmental disorders with sex biases. This review examines the association between prenatal testosterone exposure and the development of autism spectrum disorder (ASD), as well as the sex-specific behaviors in individuals with ASD. It also explores the potential role of maternal immune activation-induced developmental abnormalities in ASD and suggests a future approach for studying sex biases in ASD.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Brendan L. O'Connell, Ruth V. Nichols, Dmitry Pokholok, Jerushah Thomas, Sonia N. Acharya, Andrew Nishida, Casey A. Thornton, Marissa Co, Andrew J. Fields, Frank J. Steemers, Andrew C. Adey
Summary: This article presents advancements in the sciATAC technique for measuring chromatin accessibility. By utilizing nanowell chips, the technique achieves high cell throughput at a low cost. The optimized workflow produces high unique reads per cell and maintains high enrichment for open chromatin regions. Compared to existing methods, this technique provides similar or better per-cell information at a much lower cost.
Review
Biochemistry & Molecular Biology
Noriyoshi Usui, Hikaru Kobayashi, Shoichi Shimada
Summary: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social communication impairments, repetitive behaviors, restricted interests, and sensory sensitivities, caused by genetic and/or environmental factors. Recent studies have suggested that inflammation and oxidative stress play a role in the pathogenesis of ASD. This review focuses on the role of maternal immune activation (MIA), a common environmental risk factor during pregnancy, in inducing inflammation and oxidative stress in the placenta and fetal brain, leading to neurodevelopmental impairments and behavioral symptoms in offspring. Additionally, the effects of anti-inflammatory drugs and antioxidants in both animal and clinical studies of ASD are discussed. The review provides new insights into the involvement of inflammation and oxidative stress in the pathogenesis of ASD.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Multidisciplinary Sciences
Ashley G. Anderson, Ashwinikumar Kulkarni, Genevieve Konopka
Summary: This study integrates single-cell datasets from both embryonic and postnatal timepoints to analyze the developmental trajectory patterns and transcription factor regulatory networks within striatal cell types. It reveals that dopamine receptor-1 expressing spiny projection neurons have an extended period of transcriptional dynamics and greater transcriptional complexity over postnatal development.
SCIENTIFIC REPORTS
(2023)
Article
Multidisciplinary Sciences
Emre Caglayan, Fatma Ayhan, Yuxiang Liu, Rachael M. Vollmer, Emily Oh, Chet C. Sherwood, Todd M. Preuss, Soojin V. Yi, Genevieve Konopka
Summary: The unique functionalities of the human brain are contributed by human-specific genomic changes. The cellular heterogeneity and complex gene regulation of the human brain necessitate the characterization of human-specific molecular features at the cellular level. In this study, single-nucleus RNA sequencing and single-nucleus assay for transposase-accessible chromatin with sequencing were used to analyze human, chimpanzee, and rhesus macaque brain tissue, revealing an increase in human-specific oligodendrocyte progenitor cells and a decrease in mature oligodendrocytes across cortical tissues. The study also identified human-specific regulatory changes in neuronal subtypes and new human accelerated genomic regions associated with chromatin accessibility changes.
Article
Clinical Neurology
Nanako Nakama, Noriyoshi Usui, Miyuki Doi, Shoichi Shimada
Summary: In recent years, it has been discovered that early life stress (ELS), also known as stress in childhood, has an impact on the mental health of individuals from childhood to adulthood. Child maltreatment (CM), which refers to inappropriate childcare practices, negatively affects brain development and function. Previous studies have shown that CM increases the vulnerability of the brain and the risk of developing psychiatric disorders. Research is still ongoing to understand the mechanisms underlying the effects of abuse on mental health and brain development, using both animal models and human subjects.
PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY
(2023)
Article
Biochemistry & Molecular Biology
Seon Hye E. Park, Ashwinikumar Kulkarni, Genevieve Konopka
Summary: During cortical development, human basal radial glial cells (bRGCs) play a crucial role in self-renewal and neurogenesis. The expression of FOXP1 in bRGCs is associated with neurodevelopmental disorders (NDDs) and impacts cortical progenitor proliferation and differentiation. The loss of FOXP1 leads to a reduction in the number of bRGCs and subsequently a decrease in excitatory cortical neurons.
Article
Biochemistry & Molecular Biology
Kazuya Toriumi, Kyoka Iino, Azuna Ozawa, Mitsuhiro Miyashita, Syudo Yamasaki, Kazuhiro Suzuki, Hikari Sugawa, Koichi Tabata, Satoshi Yamaguchi, Satoshi Usami, Masanari Itokawa, Atsushi Nishida, Ryoji Nagai, Hidenori Kamiguchi, Makoto Arai
Summary: This study identified glucuronic acid (GlcA) as a novel precursor of PEN and demonstrated its production of PEN. It also found an association between GlcA and the diagnosis of schizophrenia, as well as decreased activity of Aldo-keto reductase (AKR) in degrading GlcA in patients.
Article
Immunology
Nagahide Takahashi, Tomoko Nishimura, Taeko Harada, Akemi Okumura, Toshiki Iwabuchi, Md Shafiur Rahman, Hitoshi Kuwabara, Shu Takagai, Noriyoshi Usui, Manabu Makinodan, Hideo Matsuzaki, Norio Ozaki, Hiroaki Itoh, Yoko Nomura, Jeffrey H. Newcorn, Kenji J. Tsuchiya
Summary: In this study, the relationship between perinatal inflammation and genetic risk for ADHD was examined in children aged 8-9. The results showed that perinatal inflammation and ADHD polygenic risk score (ADHD-PRS) were associated with ADHD symptoms, and there was an interaction between the two factors. The impact of perinatal inflammation on ADHD symptoms was particularly pronounced in children with a higher genetic risk for ADHD.
BRAIN, BEHAVIOR, & IMMUNITY - HEALTH
(2023)
Article
Psychiatry
Yasufumi Tomita, Kazuhiro Suzuki, Syudo Yamasaki, Kazuya Toriumi, Mitsuhiro Miyashita, Shuntaro Ando, Kaori Endo, Akane Yoshikawa, Koichi Tabata, Satoshi Usami, Mariko Hiraiwa-Hasegawa, Masanari Itokawa, Hideya Kawaji, Kiyoto Kasai, Atsushi Nishida, Makoto Arai
Summary: This study identified urinary exosomal microRNAs that can serve as predictive biomarkers for persistent psychotic-like experiences (PLEs). The researchers compared the expression levels of urinary exosomal miRNAs between individuals with persistent PLEs and those with remitted PLEs, and identified six differentially expressed microRNAs that could predict persistent PLEs with high accuracy. Therefore, urine exosomal miRNAs may serve as novel biomarkers for the risk of psychiatric disorders.
Review
Anatomy & Morphology
Noriyoshi Usui
Summary: This review discusses the research progress on the acquisition and control mechanisms of human sociality, focusing on the background of human brain evolution and the pathophysiology of autism spectrum disorder (ASD). The findings suggest that there are specific regulatory mechanisms in higher order brain functions of humans, and the neural basis of social behavior is associated with layer 6 (L6) of the neocortex and oligodendrocytes.
ANATOMICAL SCIENCE INTERNATIONAL
(2023)
Article
Psychiatry
Koichi Tabata, Mitsuhiro Miyashita, Syudo Yamasaki, Kazuya Toriumi, Shuntaro Ando, Kazuhiro Suzuki, Kaori Endo, Yuko Morimoto, Yasufumi Tomita, Satoshi Yamaguchi, Satoshi Usami, Masanari Itokawa, Mariko Hiraiwa-Hasegawa, Hidehiko Takahashi, Kiyoto Kasai, Atsushi Nishida, Makoto Arai
Summary: Recent research has found that people with schizophrenia have lower zinc levels and higher copper levels in their serum compared to healthy individuals. This study aimed to explore the relationship between zinc and copper levels in hair and the risk of psychosis in drug-naive adolescents. The results showed a negative correlation between hair zinc levels and psychosis risk, independent of antipsychotics. Further studies are needed to investigate whether hair zinc level can be used as a new biomarker for assessing psychosis risk.
