Article
Psychiatry
Kazusa Miyahara, Mizuki Hino, Zhiqian Yu, Chiaki Ono, Atsuko Nagaoka, Masataka Hatano, Risa Shishido, Hirooki Yabe, Hiroaki Tomita, Yasuto Kunii
Summary: This study evaluated the effects of pH and RIN on gene expression in human postmortem brain tissue. It found that 24.7% of genes were influenced by pH, 36.3% were influenced by RIN, and 15.6% were influenced by both factors. These genes were associated with energy production, the immune system, the cell cycle, and RNA processing. These findings are important for controlling confounders in future postmortem brain studies.
FRONTIERS IN PSYCHIATRY
(2023)
Article
Biochemistry & Molecular Biology
Hannes Steinkellner, Prakasha Kempaiah, Alexander Beribisky, Sandra Pferschy, Julia Etzler, Anna Huber, Victoria Sarne, Winfried Neuhaus, Mario Kuttke, Jan Bauer, Jayamuruga P. Arunachalam, John Christodoulou, Ralf Dressel, Alexander Mildner, Marco Prinz, Franco Laccone
Summary: This study demonstrates the therapeutic potential of recombinant TAT-MeCP2 in treating Rett syndrome. The findings show that TAT-MeCP2 can reverse the pathological changes of the disease and extend the lifespan of mice. This research lays the foundation for the development of a new therapy for Rett syndrome.
INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES
(2022)
Article
Multidisciplinary Sciences
Maria Sundberg, Hannah Pinson, Richard S. Smith, Kellen D. Winden, Pooja Venugopal, Derek J. C. Tai, James F. Gusella, Michael E. Talkowski, Christopher A. Walsh, Max Tegmark, Mustafa Sahin
Summary: Reciprocal copy number variations (CNVs) of 16p11.2 are associated with a wide spectrum of neuropsychiatric and neurodevelopmental disorders. In this study, it was demonstrated that 16p11.2 deletion leads to hyperactivation of human iPSC-derived dopaminergic neuron networks, which can be rescued by RHOA inhibition. This research provides a new perspective for studying neurodevelopmental disorders.
NATURE COMMUNICATIONS
(2021)
Review
Neurosciences
Melanie J. Grubisha, Robert A. Sweet, Matthew L. MacDonald
Summary: Although gene expression and translation have been extensively studied in psychiatric disease, post-translational modifications (PTMs), as well as the use of mass spectrometry methods, have received less attention despite their importance in regulating neuronal and circuit function. Researchers should focus more on studying PTMs and their potential implications in neurological disorders.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2021)
Article
Neurosciences
Claudia P. Figueiredo, Fabricia L. Fontes-Dantas, Andrea T. da Poian, Julia R. Clarke
Summary: There is a strong link between perinatal viral infections and neurodevelopmental disorders. COVID-19, caused by SARS-CoV-2, may impact fetal brain development. Further research is needed to understand the potential effects of SARS-CoV-2 infection on fetal brain development and the long-term consequences for offspring's neurocognitive functions.
Article
Psychiatry
Claudia Modenato, Kuldeep Kumar, Clara Moreau, Sandra Martin-Brevet, Guillaume Huguet, Catherine Schramm, Martineau Jean-Louis, Charles-Olivier Martin, Nadine Younis, Petra Tamer, Elise Douard, Fanny Thebault-Dagher, Valerie Cote, Audrey-Rose Charlebois, Florence Deguire, Anne M. Maillard, Borja Rodriguez-Herreros, Aurelie Pain, Sonia Richetin, Lester Melie-Garcia, Leila Kushan, Ana Silva, Marianne B. M. van den Bree, David E. J. Linden, Michael J. Owen, Jeremy Hall, Sarah Lippe, Mallar Chakravarty, Danilo Bzdok, Carrie E. Bearden, Bogdan Draganski, Sebastien Jacquemont
Summary: This study investigates the impact of multiple neurodevelopmental and psychiatric disorder-associated CNVs on brain anatomy, and identifies shared latent brain regions through principal component analysis. While CNVs exhibit unique brain patterns, they show some overlap in latent brain dimensions.
TRANSLATIONAL PSYCHIATRY
(2021)
Review
Biochemistry & Molecular Biology
Maria Guardiola-Ripoll, Mar Fatjo-Vilas
Summary: Schizophrenia is a psychiatric disorder caused by the interaction of genetic and environmental factors that disrupt neurodevelopment. Human Accelerated Regions (HARs) are evolutionarily conserved genomic regions with unique human-specific sequence changes. Research has increasingly focused on the role of HARs in human brain development, configuration, cognitive abilities, and susceptibility to neurodevelopmental psychiatric disorders such as schizophrenia. This comprehensive review highlights the molecular functions of HARs in neurodevelopmental regulation, the spatial correlation of HAR gene expression with human-specific cortical expansion, and the involvement of HARs in the genetic background of schizophrenia and other psychiatric disorders. The study emphasizes the importance of further investigating HARs as evolutionary markers to bridge the gap between neurodevelopmental and evolutionary hypotheses in psychiatric disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Neurosciences
Caroline Demro, Bryon A. Mueller, Jerillyn S. Kent, Philip C. Burton, Cheryl A. Olman, Michael-Paul Schallmo, Kelvin O. Lim, Scott R. Sponheim
Summary: This paper describes an investigation within the Human Connectome Project focusing on psychotic psychopathology, with data collected from clinical assessments, cognitive assessments, motor assessments, blood specimens, and MRI data. The goal is to provide information on data acquisition process for researchers planning to use the publicly available data, with a companion paper detailing the study's 7 Tesla image acquisition protocol.
Article
Immunology
Tracy A. Becerra-Culqui, Darios Getahun, Vicki Chiu, Lina S. Sy, Hung Fu Tseng
Summary: This study investigated the association between prenatal influenza vaccination or infection and autism spectrum disorder (ASD) in offspring. The findings showed no association between prenatal influenza vaccination or infection and ASD risk in children.
CLINICAL INFECTIOUS DISEASES
(2022)
Article
Cell Biology
Rafael Martinez-Carrasco, Pablo Argueso
Summary: By using lectin microarrays to characterize the composition of cell surface glycans, we identified a series of cell surface glycan signatures that are unique to different cell types in the human cornea and are correlated with transcriptomic data. These findings may provide insights into the specialized function of individual cell types in the cornea and facilitate the discovery of novel cornea-specific biomarkers.
Review
Biochemistry & Molecular Biology
Ahmed Eltokhi, Andrea Santuy, Angel Merchan-Perez, Rolf Sprengel
Summary: The correlation between dysfunction in the glutamatergic system and neuropsychiatric disorders, including schizophrenia and autism spectrum disorder, is discussed in this review. The alterations in synaptic plasticity and ultrastructural changes in synapses in these disorders are highlighted, with a brief mention of the potential reversibility of these conditions based on regular synaptic physiology findings.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Neurosciences
Mariam Markouli, Dimitrios Strepkos, Sarantis Chlamydas, Christina Piperi
Summary: Epigenetic changes involving the regulation of chromatin structure play a crucial role in genome stabilization and the pathophysiology of central nervous system disorders. The enzyme SETDB1, responsible for histone modification, is implicated in various CNS disorders and may serve as a potential therapeutic target.
PROGRESS IN NEUROBIOLOGY
(2021)
Article
Nutrition & Dietetics
Julianne Ching Yang, Ryan Troutman, Heidi Buri, Arjun Gutta, Jamilla Situ, Ezinne Aja, Jonathan Patrick Jacobs
Summary: Recent studies have shown that the gut microbiome plays a crucial role in mediating the physiology and behavior associated with schizophrenia. A mouse model of schizophrenia, the 22q11.2 microdeletion (Q22) mouse model, displayed schizophrenia-related behaviors and intestinal dysbiosis. This research suggests that the Q22 mouse model could be useful in studying the relationship between gut dysbiosis and the gut-brain axis in schizophrenia pathogenesis.
Article
Neurosciences
Manal Tabbaa, Allison Knoll, Pat Levitt
Summary: Previous models of neurodevelopmental disorders have limitations in capturing the genetic diversity and symptom heterogeneity seen clinically. In this study, we tested whether introducing genetic background diversity in mouse models could replicate population and individual differences in response to a specific mutation in the autism risk gene, CHD8. Results showed that clinically relevant traits were disrupted in a manner similar to clinical observations, with significant strain and sex differences. Some strains exhibited large effect-size trait disruptions, while others showed resilience. Therefore, systematically incorporating genetic diversity in models of neurodevelopmental disorders provides a better framework for understanding individual differences in symptom etiologies.
Article
Neurosciences
Paul W. Frazel, David Labib, Theodore Fisher, Ran Brosh, Nicolette Pirianian, Anne Marchildon, Jef D. Boeke, Valentina Fossati, Shane A. Liddelow
Summary: Researchers used single-cell/single-nucleus RNA sequencing to analyze the differentiation of macroglia in the brain and spinal cord. They identified candidate genes involved in glial cell fate specification and observed heterogeneous expression of astrocyte surface markers during differentiation. The researchers also optimized a mouse astrocyte differentiation protocol and explored potential genomic regulatory sites mediating glial differentiation using multi-omic analysis.
NATURE NEUROSCIENCE
(2023)
