Article
Neurosciences
Krzysztof M. Wilczynski, Aleksandra Stasik, Lena Cichon, Aleksandra Augusciak-Duma, Malgorzata Janas-Kozik
Summary: Autism spectrum disorders (ASD) are a heterogeneous group of disorders that affect every population. Its pathogenesis involves the interaction of genetic and environmental factors. Social communication deficits are the main symptom of ASD, which lead to difficulties in everyday functioning.
Article
Clinical Neurology
Tatsuo Mano, K. Sato, T. Ikeuchi, T. Toda, T. Iwatsubo, A. Iwata
Summary: The study analyzed methylation changes in the BRCA1 promoter region in blood samples from Alzheimer's disease patients, finding no significant differences compared to normal controls but a positive correlation with AD risk factors. This suggests that environmental changes in the CNS can be detected through peripheral blood, indicating that peripheral BRCA1 methylation levels may serve as a surrogate marker for AD.
JPAD-JOURNAL OF PREVENTION OF ALZHEIMERS DISEASE
(2021)
Article
Rheumatology
Ilka Liebold, Andreas Gruetzkau, Anika Goeckeritz, Velia Gerl, Randall Lindquist, Eugen Feist, Michael Zaenker, Thomas Haeupl, Denis Poddubnyy, Jan Zernicke, Biljana Smiljanovic, Tobias Alexander, Gerd R. Burmester, Steffen Gay, Bruno Stuhlmueller
Summary: The study investigated global DNA methylation in peripheral blood mononuclear cells of RA patients and found that it was associated with disease activity and treatment response. The degree of global methylation may be a promising biomarker for monitoring therapy and predicting outcomes in inflammatory diseases.
Article
Biochemistry & Molecular Biology
Magdalena Meyer, Benjamin Jurek, Mercedes Alfonso-Prieto, Rui Ribeiro, Vladimir M. Milenkovic, Julia Winter, Petra Hoffmann, Christian H. Wetzel, Alejandro Giorgetti, Paolo Carloni, Inga D. Neumann
Summary: This study reveals the cellular mechanism linking the oxytocin receptor gene mutation (OXTR rs4686302 SNP) with genetic dysregulations associated with autism spectrum disorder (ASD). The mutation leads to increased OXTR protein stability, changes in Ca2+ dynamics, and reduced activation of the MAPK pathway. Whole-genome and RNA sequencing analysis showed numerous differentially regulated genes in the mutant cells, including 429 genes associated with ASD. Computational modeling suggested that the OXTR mutation affects downstream events by altering receptor activation and signaling, consistent with the in vitro results.
MOLECULAR PSYCHIATRY
(2022)
Review
Endocrinology & Metabolism
Haiyan Zheng, Ji Yeon Lim, Yerin Kim, Sang Taek Jung, Sun Wook Hwang
Summary: Oxytocin and vasopressin, neurohypophyseal hormones, play a central role in regulating bodily homeostasis and are strongly involved in downregulating pain. By modulating nociceptors, the first component of the pain signaling pathway, these peptides contribute to pain attenuation, sparking scientific interest in their physiological processes.
FRONTIERS IN NEUROENDOCRINOLOGY
(2021)
Article
Medicine, General & Internal
Natascha Sommer, Finn Fabian Theine, Oleg Pak, Khodr Tello, Manuel Richter, Henning Gall, Jochen Wilhelm, Rajkumar Savai, Norbert Weissmann, Werner Seeger, Hossein A. Ghofrani, Matthias Hecker
Summary: The study found that mitochondrial function in PBMC of PAH patients is affected by disease severity, with mitochondrial respiration correlating with hemodynamic parameters. Further research is needed to investigate cell-type-specific alterations and functional consequences.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Neurosciences
Minshi Huang, Kevin Liu, Zhen Wei, Zhe Feng, Jierong Chen, Jie Yang, Qin Zhong, Guobin Wan, Xue-Jun Kong
Summary: The study revealed that children with ASD generally have lower serum oxytocin levels compared to healthy controls, with a correlation observed between specific gut microbiota abundance and oxytocin levels. Additionally, gender differences were found to influence serum oxytocin levels and GIS index.
FRONTIERS IN NEUROSCIENCE
(2021)
Review
Endocrinology & Metabolism
Nicole Rigney, Geert J. de Vries, Aras Petrulis, Larry J. Young
Summary: This article reviews the regulatory effects of oxytocin and vasopressin on social behavior and summarizes the circuit-based mechanisms related to social behaviors. It discusses the use of modern molecular genetic technologies to study neuropeptide circuits and explores the species diversity in the effects of oxytocin and vasopressin on social behaviors. Additionally, it discusses the translational implications of oxytocin and vasopressin for improving social functioning in disorders such as autism spectrum disorder.
Article
Geriatrics & Gerontology
Chung-Sheng Lee, Chin-Hao Chang, Chin-Ying Chen, Chih-Yuan Shih, Jen-Kuei Peng, Hsien-Liang Huang, Pei-Yun Chen, Tse-Le Huang, Ching-Yu Chen, Jaw-Shiun Tsai
Summary: The study found that the expression levels of CD36 were up-regulated in frail older adults and positively correlated with the frailty status. This suggests that CD36 may serve as a potential biomarker for frailty severity.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2022)
Article
Multidisciplinary Sciences
Yoshiaki Kikuchi, Madoka Noriuchi, Hiroko Isobe, Maki Shirato, Naoyasu Hirao
Summary: The neurobiological basis of brand and product attachment has received attention in consumer neuroscience research, and this study found that attachment to cosmetics is associated with the left ventral pallidum and right posterior cingulate cortex. Furthermore, subjective evaluation of attachment is linked to specific brain regions, suggesting a representation of individual attachment concepts and relationships in the brain.
SCIENTIFIC REPORTS
(2021)
Review
Physiology
Bojana Savic, David Murphy, Nina Japundzic-Zigon
Summary: The paraventricular nucleus (PVN) is a crucial structure in the hypothalamus that plays a key role in regulating cardiovascular and osmotic balance. It is divided into neuroendocrine and autonomic compartments, both equally important for hormone production and autonomous regulation. Additionally, the PVN interacts with other regions to modulate blood pressure and its variability.
FRONTIERS IN PHYSIOLOGY
(2022)
Article
Endocrinology & Metabolism
Benjamin A. Tabak, David Rosenfield, Cecile S. Sunahara, Talha Alvi, Angela Szeto, Armando J. Mendez
Summary: Establishing reliable biomarkers associated with specific forms of psychopathology has been challenging. Social anxiety, for example, is linked to inconsistent biological responses, making it crucial to identify more reliable biomarkers. Oxytocin and vasopressin are potential candidates, but it remains unclear if they are modulated by social anxiety in response to psychosocial stress.
PSYCHONEUROENDOCRINOLOGY
(2022)
Article
Immunology
Yu-Chieh Chen, Hsiang-Yuan Lin, Yiling Chien, Yu-Hung Tung, Yen-Hsuan Ni, Susan Shur -Fen Gau
Summary: This study investigated the microbial profiles in an East Asian sample and found that individuals with autism spectrum disorder (ASD) had altered microbiota compared to typically developing controls (TDC). These changes were associated with autistic symptoms and emotional/behavioral problems, but not GI symptoms. The findings support the hypothesis of a complex relationship between altered microbiome, immune dysregulation, and ASD.
BRAIN BEHAVIOR AND IMMUNITY
(2022)
Article
Behavioral Sciences
Xiao-E Cai, Jiao Le, Xiao-Jing Shou, Gao-Wa Wu-Yun, Xiao-Xi Wang, Song-Ping Han, Ji-Sheng Han, Keith M. Kendrick, Rong Zhang
Summary: Children with autism exhibit reduced attention to social paired with nonsocial stimuli compared to typically developing children. Using eye-tracking we show this difference is due to typically developing rather than autistic boys being more influenced by how interesting competing nonsocial objects are. On the other hand, reduced time looking at the eyes in autistic relative to typically developing boys is unaffected by nonsocial object salience. Time spent viewing social stimuli is associated with cognitive development and blood levels of oxytocin.
Article
Behavioral Sciences
Candice L. Malone, Nathaniel S. Rieger, Jeremy A. Spool, Alexis Payette, Lauren V. Riters, Catherine A. Marler
Summary: Monogamous California mice exhibit behavioral convergence across two conspecific intruder challenges, which is associated with mRNA expression of oxytocin, androgen, and estrogen alpha receptors in the medial amygdala and anterior olfactory nucleus. This suggests the involvement of multiple mechanisms in behavioral convergence.
BEHAVIOURAL BRAIN RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Irena Voinsky, Oleg Y. Fridland, Adi Aran, Richard E. Frye, David Gurwitz
Summary: Early diagnosis of ASD is crucial, but the current process is lengthy due to the lack of reliable biomarkers. In this study, we used RNA-sequencing to identify dysregulated genes in ASD children and developed machine learning models for ASD diagnosis. Our models achieved an accuracy of 82% in distinguishing ASD children from NT children, but further validation is needed.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Psychiatry
Noa Katz Shroitman, Assif Yitzhaky, Dorit Ben Shachar, David Gurwitz, Libi Hertzberg
Summary: Schizophrenia is a chronic and debilitating mental disorder with unknown causes. This study investigated the expression of ATP synthase encoding genes in postmortem brain samples of individuals with schizophrenia. The results showed down-regulation of ATP synthase genes in schizophrenia, supporting the hypothesis that reduced ATP synthesis is associated with this disorder. The findings highlight the importance of abnormal cellular energy metabolism in schizophrenia.
JOURNAL OF PSYCHIATRIC RESEARCH
(2023)
Article
Medicine, Research & Experimental
Diana Santos, Patricia Porter-Gill, Grace Goode, Leanna Delhey, Anja Elaine Sorensen, Shannon Rose, Elisabet Borsheim, Louise Torp Dalgaard, Eugenia Carvalho
Summary: The aim of this study was to identify a circulating miRNA profile that reflects insulin resistance in prepubertal children with obesity. Plasma miRNAs of the participants were measured and subjects were divided into normal weight and overweight or obese groups. The study found differential expression of eleven miRNAs between the two groups, and miR-146a-5p was correlated with insulin resistance. These findings may contribute to early interventions and treatments.
Editorial Material
Clinical Neurology
Richard E. E. Frye
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
(2023)
Editorial Material
Health Care Sciences & Services
Gabriel Belfort, Heer Nanda, John C. Slattery, Joanna Sambor, John Rodakis, Richard E. Frye
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Editorial Material
Health Care Sciences & Services
Richard E. Frye, Heer Nanda, Samuel J. Pleasure, Manuel F. Casanova, Richard G. Boles, Jeffrey Lewine, John Gaitanis, James B. Adams
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Review
Health Care Sciences & Services
Francesco Amico, Richard E. Frye, Scott Shannon, Steve Rondeau
Summary: Suicide is a global phenomenon that affects individuals, families, and communities worldwide, and personalized interventions are necessary to prevent it. Electroencephalography (EEG) can provide more objective and reliable diagnostic methods to complement interview-based risk assessments.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Editorial Material
Health Care Sciences & Services
Heer Nanda, Richard E. Frye
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Article
Chemistry, Medicinal
Irena Voinsky, Elad Shapira, David Gurwitz
Summary: Biobanks play a crucial role in biomedical research by providing human cell lines for drug development projects. RNA-sequencing of large panels of cell lines from individuals with certain disorders and healthy controls, or with different drug response phenotypes, is commonly performed. In this study, we demonstrate that extracting RNAs directly from long-term frozen human cell lines yields high-quality RNA samples suitable for optimal RNA-sequencing, comparable to those obtained from growing cell lines.
DRUG DEVELOPMENT RESEARCH
(2023)
Editorial Material
Chemistry, Medicinal
David Gurwitz, Noam Shomron
DRUG DEVELOPMENT RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Liron Mizrahi, Ashwani Choudhary, Polina Ofer, Gabriela Goldberg, Elena Milanesi, John R. Kelsoe, David Gurwitz, Martin Alda, Fred H. Gage, Shani Stern
Summary: Bipolar disorder is a mood disorder characterized by recurrent episodes of mania and depression. Many patients do not respond to the first-line treatment drug lithium, making clinical management challenging. By analyzing gene expression in lymphoblastoid cell lines, we identified potential biomarkers for diagnosing and treating bipolar disorder. We also developed machine learning algorithms that accurately predicted lithium response in different patient cohorts. This methodology shows promise for guiding therapeutic interventions.
MOLECULAR PSYCHIATRY
(2023)
Article
Health Care Sciences & Services
John Gaitanis, Duyu Nie, Tao Hou, Richard Frye
Summary: Autism spectrum disorder (ASD) with regression (ASD-R) is characterized by the loss of previously attained developmental milestones, often occurring in the first or second year of life. This study examined the development of aggressive behaviors and epilepsy in ASD-R compared to ASD patients without regression (ASD-NR). The findings showed that ASD-R patients had higher rates of epilepsy and aggressive behaviors, especially when both conditions were combined. These co-morbidities can significantly impact the quality of life for individuals with ASD and require further examination.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Editorial Material
Health Care Sciences & Services
Jennifer Frankovich, Heer Nanda, Elizabeth D. D. Mellins, Harumi Jyonouchi, Richard G. G. Boles, Stephen J. J. Walker, John Gaitanis, Richard E. E. Frye
JOURNAL OF PERSONALIZED MEDICINE
(2023)
