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
Pediatrics
Sakari Wahrmann, Leena Kainulainen, Ville Kyto, Johanna Lempainen
Summary: The study aimed to describe the clinical manifestations of 22q11.2 deletion syndrome patients in the Finnish paediatric population. Nationwide registry data from all public hospitals in Finland between 2004 and 2018 were analyzed. The study found that 22q11.2 deletion syndrome is associated with increased mortality and substantial multimorbidity in children, highlighting the need for a structured multidisciplinary approach for managing these patients.
Article
Medicine, General & Internal
Chiara Paternostro, Stephanie Springer, Gregor Kasprian, Guelen Yerlikaya-Schatten, Theresa Reischer
Summary: The aim of this retrospective study was to evaluate the clinical course and pregnancy outcome of cases with prenatally diagnosed 22q11.2 deletion syndrome (DS) and the role of prenatal magnetic resonance imaging (MRI) and postmortem examination. Out of the 21 cases included in the study, prenatal MRI provided additional diagnostic information in three cases. Postmortem examination diagnosed most of the craniofacial anomalies, serving as an important quality indicator for prenatal imaging.
Article
Biochemistry & Molecular Biology
Timothy P. Rutkowski, Ryan H. Purcell, Rebecca M. Pollak, Stephanie M. Grewenow, Georgette M. Gafford, Tamika Malone, Uswa A. Khan, Jason P. Schroeder, Michael P. Epstein, Gary J. Bassell, Stephen T. Warren, David Weinshenker, Tamara Caspary, Jennifer Gladys Mulle
Summary: The 3q29 deletion increases the risk for various neuropsychiatric phenotypes, and the experimental deletion in mice revealed behavioral impairments in multiple domains, with potential sex-dependent effects. The study also found that mouse-specific behavioral phenotypes associated with the 3q29 deletion are not solely due to haploinsufficiency of Dlg1.
MOLECULAR PSYCHIATRY
(2021)
Article
Psychiatry
Caren Latreche, Johanna Maeder, Valentina Mancini, Maude Schneider, Stephan Eliez
Summary: This study is the first double-blind study aimed at investigating the potential neuroprotective effect of antipsychotics in individuals with 22q11DS at risk for psychosis. The results indicate short-term improvements in SIPS items and reliable enhancements in working memory and attention measures for treated participants.
FRONTIERS IN PSYCHIATRY
(2022)
Review
Biochemistry & Molecular Biology
Aleksandra Szczawinska-Poplonyk, Eyal Schwartzmann, Zuzanna Chmara, Antonina Glukowska, Tomasz Krysa, Maksymilian Majchrzycki, Maurycy Olejnicki, Paulina Ostrowska, Joanna Babik
Summary: The 22q11.2 deletion syndrome is a multisystemic disorder with a wide range of clinical manifestations. The syndrome is caused by chromosomal rearrangements in meiosis and is mediated by non-allelic homologous recombination events. Various genetic and environmental factors contribute to the genotype-phenotype relationships. This comprehensive review highlights the molecular genetic background of 22q11.2 deletion syndrome in correlation with a clinical multidisciplinary approach.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Acoustics
E. Bevilacqua, J. C. Jani, R. Chaoui, E-K A. Suk, R. Palma-Dias, T-M Ko, S. Warsof, R. Stokowski, K. J. Jones, F. R. Grati, M. Schmid
Summary: This study evaluated the clinical sensitivity and specificity of a targeted cell-free DNA (cfDNA) test for fetal 22q11.2 deletion, demonstrating high sensitivity and specificity.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Hidenori Tabata, Daisuke Mori, Tohru Matsuki, Kaichi Yoshizaki, Masato Asai, Atsuo Nakayama, Norio Ozaki, Koh-ichi Nagata
Summary: 22q11.2 deletion syndrome (22q11.2DS) is associated with a high risk of psychiatric and developmental disorders. A mouse model of this disease, Del(3.0Mb)/+, was generated and its behavior was extensively studied. The histological features of the brains of Del(3.0Mb)/+ mice were investigated and changes were observed in the morphology of individual neurons in specific brain regions. These changes in the dopamine system may explain the abnormal behaviors of the mice and the psychiatric symptoms of 22q11.2DS.
Article
Genetics & Heredity
Steven Pastor, Oanh Tran, Daniel E. McGinn, T. Blaine Crowley, Elaine H. Zackai, Donna M. McDonald-McGinn, Beverly S. Emanuel
Summary: The most common microdeletion in humans occurs at the 22q11.2 region, which is rich in low copy repeats (LCR22s). The complex structure of this region has been difficult to characterize. Optical mapping has been used to study the structure and variations of LCR22s. This study identified all structures involving a rearranged chromosome 22 that contribute to the 22q11.2 deletion.
Article
Neurosciences
Chiara Urbinati, Chiara Lanzillotta, Livia Cosentino, Daniela Valenti, Maria Cristina Quattrini, Livia Di Crescenzo, Francesca Prestia, Donatella Pietraforte, Marzia Perluigi, Fabio Di Domenico, Rosa Anna Vacca, Bianca De Filippis
Summary: Metformin treatment can selectively correct cognitive flexibility defects, improve mitochondrial function, and inhibit oxidative stress in female mice with Rett syndrome (RTT). However, it does not affect the general health and motor skills of RTT mice.
Article
Medicine, Research & Experimental
Prasanth Pattisapu, Sara Kinter, Randall A. Bly, John P. Dahl, Jonathan A. Perkins, Xing Wang, Kathleen C. Y. Sie
Summary: The aim of this study was to compare the risk of persistent velopharyngeal dysfunction after sphincter pharyngoplasty in patients with and without 22q11.2 deletion syndrome. The results showed no significant differences between patients with 22q11DelS and non-patients in terms of the severity of velopharyngeal insufficiency and nasopharyngoscopic evaluations.
Article
Multidisciplinary Sciences
Ralda Nehme, Olli Pietilainen, Mykyta Artomov, Matthew Tegtmeyer, Vera Valakh, Leevi Lehtonen, Christina Bell, Tarjinder Singh, Aditi Trehan, John Sherwood, Danielle Manning, Emily Peirent, Rhea Malik, Ellen J. Guss, Derek Hawes, Amanda Beccard, Anne M. Bara, Dane Z. Hazelbaker, Emanuela Zuccaro, Giulio Genovese, Alexander A. Loboda, Anna Neumann, Christina Lilliehook, Outi Kuismin, Eija Hamalainen, Mitja Kurki, Christina M. Hultman, Anna K. Kahler, Joao A. Paulo, Andrea Ganna, Jon Madison, Bruce Cohen, Donna McPhie, Rolf Adolfsson, Roy Perlis, Ricardo Dolmetsch, Samouil Farhi, Steven McCarroll, Steven Hyman, Ben Neale, Lindy E. Barrett, Wade Harper, Aarno Palotie, Mark Daly, Kevin Eggan
Summary: The mechanism by which the 22q11.2 deletion predisposes to psychiatric disease is not well understood. In this study, the authors investigated human neuronal cells and found that the deletion regulates the expression of genes associated with autism, schizophrenia, and synaptic biology. Using induced pluripotent stem cells and CRISPR/Cas9 technology, the researchers found that the deletion alters the abundance of transcripts associated with neurodevelopmental disorders during differentiation into neural progenitor cells. Furthermore, the altered transcripts in excitatory neurons were found to encode presynaptic factors and were associated with genetic risk for schizophrenia.
NATURE COMMUNICATIONS
(2022)
Article
Obstetrics & Gynecology
Tugba Sarac Sivrikoz, Seher Basaran, Recep Has, Birsen Karaman, Ibrahim Halil Kalelioglu, Melike Kirgiz, Umut Altunoglu, Atil Yuksel
Summary: This study presented fetal ultrasound, cytogenetic/molecular testing, and postmortem or postnatal findings of cases with 22q11.2DS diagnosed prenatally. The most common extracardiac anomaly found was skeletal system anomalies, and polyhydramnios was a significant indication. Microdeletions were usually confirmed through FISH and microarray analysis.
ARCHIVES OF GYNECOLOGY AND OBSTETRICS
(2022)
Article
Audiology & Speech-Language Pathology
Emma Everaert, Iris Selten, Tessel Boerma, Michiel Houben, Jacob Vorstman, Hester de Wilde, Desiree Derksen, Sarah Haverkamp, Frank Wijnen, Ellen Gerrits
Summary: This study provides a comprehensive overview of language assessment in preschool-aged children with 22q11DS, revealing that the majority of children have language problems across different domains. Language ability is moderately related to speech intelligibility, but there is significant variability among children. Therefore, it is crucial to conduct a comprehensive assessment and provide care for language problems in all young children with 22q11DS.
AMERICAN JOURNAL OF SPEECH-LANGUAGE PATHOLOGY
(2023)
Article
Genetics & Heredity
Silvia Ricci, Walter Maria Sarli, Lorenzo Lodi, Clementina Canessa, Francesca Lippi, Chiara Azzari, Stefano Stagi
Summary: This study longitudinally evaluated the frequency of thyroid anomalies and autoimmune thyroid disease (ATD) in patients with chromosome 22q11.2 Deletion Syndrome (22q11.2DS). The results showed that 21.9% of patients with 22q11.2DS developed ATD before 18 years of age, with Hashimoto's Thyroiditis being the most common. Additionally, ultrasound scans were found to be useful in detecting thyroid abnormalities in these patients.
Review
Pharmacology & Pharmacy
Steve P. H. Alexander, Jane F. Armstrong, Anthony P. Davenport, Jamie A. Davies, Elena Faccenda, Simon D. Harding, Francesca Levi-Schaffer, Janet J. Maguire, Adam J. Pawson, Christopher Southan, Michael Spedding
BRITISH JOURNAL OF PHARMACOLOGY
(2020)
Review
Medicine, General & Internal
M. -O. Krebs, F. Demars, A. Frajerman, O. Kebir, T. Jay
BULLETIN DE L ACADEMIE NATIONALE DE MEDECINE
(2020)
Editorial Material
Immunology
Simon Milling, Michael Spedding, Pasquale Maffia
Article
Pharmacology & Pharmacy
Alexandra Bouscary, Cyril Quessada, Frederique Rene, Michael Spedding, Alexandre Henriques, Shyuan Ngo, Jean-Philippe Loeffler
EUROPEAN JOURNAL OF PHARMACOLOGY
(2020)
Article
Pharmacology & Pharmacy
Mikael Hoffmann, Robert Vander Stichele, David W. Bates, Johanna Bjorklund, Steve Alexander, Marine L. Andersson, Ane Auraaen, Marion Bennie, Marja-Liisa Dahl, Birgit Eiermann, Werner Hackl, Tora Hammar, Paul Hjemdahl, Sabine Koch, Ilkka Kunnamo, Herve Le Louet, Papapetrou Panagiotis, Lembit Raego, Michael Spedding, Hanna M. Seidling, Dina Demner-Fushman, Lars L. Gustafsson
EXPERT REVIEW OF CLINICAL PHARMACOLOGY
(2020)
Article
Pharmacology & Pharmacy
Michael Spedding, Sumantra Chattarji, Charlotte Spedding, Therese M. Jay
Summary: This review focuses on key brain circuits and their role in health and disease, as well as the impact of upbringing, stress, genetics, and pharmacotherapy on psychiatric diseases.
Article
Clinical Neurology
Briana K. Chen, Gwenaelle Le Pen, Adam Eckmier, Gilles Rubinstenn, Therese M. Jay, Christine A. Denny
Summary: The study showed that compared to memantine, fluoroethylnormemtantine (FENM) did not produce nonspecific side effects in animal experiments, reduced immobility in the forced swim test, and significantly facilitated fear extinction learning.
INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY
(2021)
Review
Cell Biology
Alexandra Bouscary, Cyril Quessada, Frederique Rene, Michael Spedding, Bradley J. Turner, Alexandre Henriques, Shyuan T. Ngo, Jean-Philippe Loeffler
Summary: Sphingolipids play crucial roles in the development and maintenance of the nervous system, with dysregulated metabolism being linked to specific neurodegenerative diseases. Current research primarily focuses on ALS, seeking potential treatments that target sphingolipid metabolism in neurodegenerative diseases.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Simon D. Harding, Jane F. Armstrong, Elena Faccenda, Christopher Southan, Stephen P. H. Alexander, Anthony P. Davenport, Adam J. Pawson, Michael Spedding, Jamie A. Davies
Summary: The IUPHAR/BPS Guide to PHARMACOLOGY has expanded its content in the past two years, focusing on infection, malaria, and antibiotic resistance. It has included a new family of Coronavirus proteins and collaborated with Medicines for Malaria Venture and AntibioticDB to enhance coverage of malaria pharmacology and antibacterials.
NUCLEIC ACIDS RESEARCH
(2022)
Article
Cell Biology
Michael Spedding, Claude Sebban, Therese M. Jay, Cyril Rocher, Brigitte Tesolin-Decros, Paul Chazot, Esther Schenker, Gabor Szenasi, Gyorgy Levay, Katalin Megyeri, Jozsef Barkoczy, Laszlo G. Harsing, Ian Thomson, Mark O. Cunningham, Miles A. Whittington, Lori-An Etherington, Jeremy J. Lambert, Ferenc A. Antoni, Istvan Gacsalyi
Summary: Dysfunction in the H-PFC circuit is a critical factor in schizophrenia, and a new drug called EGIS 11150 has been found to induce theta rhythm, enhance H-PFC coherence, and restore long-term potentiation in this circuit. This suggests that phenotypical screening on H-PFC connectivity can uncover novel antipsychotics.
Review
Pharmacology & Pharmacy
Christopher N. Connolly, Stephen P. H. Alexander, Jamie A. Davies, Michael Spedding
Summary: The article proposes the application of standard pharmacological principles to assess the dosing of the environment and suggests the concept of an "environmental therapeutic window" for risk assessment of pesticides. To achieve this, a freely accessible database containing quantitative data on pesticide action is needed.
BRITISH JOURNAL OF PHARMACOLOGY
(2022)
Meeting Abstract
Toxicology
M. Spedding
TOXICOLOGY LETTERS
(2022)
Meeting Abstract
Biochemistry & Molecular Biology
M. Fazzari, A. Henriques, G. Lunghi, L. Mauri, M. G. Ciampa, G. Tedeschi, N. Mitro, S. Sonnino, M. Spedding, E. Chiricozzi