Article
Biochemistry & Molecular Biology
Dongyan Ren, Bin Luo, Peng Chen, Lulu Yu, Mingtao Xiong, Zhiqiang Fu, Tian Zhou, Wen-Bing Chen, Erkang Fei
Summary: DGCR2 gene is upregulated during neurodevelopment and enriched in postsynaptic densities. Deficiency of DGCR2 leads to decreased spine formation, glutamatergic transmission, and synaptic plasticity in the hippocampus, resulting in abnormal behaviors. This study provides insight into the pathophysiological mechanism of DGCR2 in 22q11DS and related mental disorders, highlighting DGCR2 as a novel cell adhesion molecule required for spine development and synaptic plasticity.
CELL AND BIOSCIENCE
(2023)
Article
Genetics & Heredity
Lisa D. Palmer, Zoe McManus, Tracy Heung, Grace McAlpine, Christina Blagojevic, Maria Corral, Anne S. Bassett
Summary: This study investigated reproductive outcomes in individuals with 22q11.2 deletions and found a higher rate of miscarriages. Additionally, the presence or absence of major congenital heart disease was identified as an important factor influencing reproductive outcomes. Furthermore, there were concerns regarding diagnostic delay and limited prenatal genetic testing.
Article
Clinical Neurology
Zongxiang Xiong, Heting Wang, Yutian Qu, Sihan Peng, Yuchi He, Qingyan Yang, Xinyue Xu, De Lv, Ya Liu, Chunguang Xie, Xiyu Zhang
Summary: Schizophrenia is a complex neurological disorder with severe consequences for individuals and society. Traditional drugs have limitations in treating negative symptoms and often have side effects and drug resistance. This paper reviews the mechanism of schizophrenia based on mitochondrial dysfunction, focusing on natural drugs that enhance mitochondrial function as potential improvements to current treatment.
PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY
(2023)
Article
Neurosciences
Hiren Patel, Ramu Vadukapuram, Zeeshan Mansuri, Chintan Trivedi, Kanwarjeet Singh Brar, Uzma Beg, Jigar Patel, Aalamgeer Ibrahim, Muhammad Khalid Zafar
Summary: This study evaluated the psychiatric comorbidities and demographics of patients with DiGeorge Syndrome during inpatient hospitalizations. The findings showed a high prevalence of mood disorders and anxiety disorders among these patients, as well as a higher rate of discharge to other healthcare facilities and discharge against medical advice in patients with psychiatric comorbidities.
CLINICAL PSYCHOPHARMACOLOGY AND NEUROSCIENCE
(2022)
Article
Clinical Neurology
Emma Everaert, Jacob A. S. Vorstman, Iris S. Selten, Martijn G. Slieker, Frank Wijnen, Tessel D. Boerma, Michiel L. Houben
Summary: This study investigated executive functioning (EF) in preschool children with 22q11.2 deletion syndrome (22q11DS) and explored the effect of congenital heart defects (CHD) on EF abilities. The results showed that children with 22q11DS performed worse than typically developing children on selective attention and working memory tasks, and there was no effect of CHD on EF performance.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS
(2023)
Article
Immunology
Zhe Zhang, LiHua Shi, Li Song, Kelly Maurer, Xue Zhao, Elaine H. Zackai, Daniel E. McGinn, T. Blaine Crowley, Donna M. McDonald McGinn, Kathleen E. Sullivan
Summary: Chromosome 22q11.2 deletion syndrome is a common inborn error of immunity often characterized by low T cell numbers and later complications such as atopy and autoimmunity. This study found altered CD4 T cell chromatin in individuals with 22q11.2 deletion, reflecting qualitative changes that may contribute to the disease mechanism alongside the known quantitative defects.
JOURNAL OF CLINICAL IMMUNOLOGY
(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
Psychiatry
Maurice Pasternak, Zahra Shirzadi, Henk J. M. M. Mutsaerts, Erik Boot, Nancy J. Butcher, Bradley J. MacIntosh, Tracy Heung, Anne S. Bassett, Mario Masellis
Summary: This study used arterial spin labelling MRI to investigate differences in cerebral blood flow between individuals with 22q11DS and healthy controls. The results showed significantly elevated cerebral blood flow in specific brain regions of 22q11DS individuals, suggesting possible relevance to schizophrenia risk and highlighting the importance of further functional neuroimaging studies with larger sample sizes.
WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY
(2023)
Review
Genetics & Heredity
Wiktor Bilecki, Marzena Mackowiak
Summary: This paper focuses on genetic and epigenetic data to understand the etiological and clinical heterogeneity of schizophrenia, specifically the transcriptional abnormalities in the prefrontal cortex (PFC) and their relationship to functional outcomes in the disorder.
Article
Endocrinology & Metabolism
Walter Maria Sarli, Silvia Ricci, Lorenzo Lodi, Federica Cavone, Lucia Pacillo, Carmela Giancotta, Graziamaria Ubertini, Giampiero Baroncelli, Caterina Cancrini, Chiara Azzari, Stefano Stagi
Summary: The chromosome 22q11.2 deletion syndrome is a group of diseases characterized by abnormal development and various health issues. This study found a potential association between this syndrome and thyroid neoplasms.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Psychiatry
Angeles Tepper, Analia Cuiza, Luz Maria Alliende, Carlos Mena, Juan Pablo Ramirez-Mahaluf, Barbara Iruretagoyena, Claudia Ornstein, Rosemarie Fritsch, Ruben Nachar, Alfonso Gonzalez-Valderrama, Juan Undurraga, Juan Pablo Cruz, Cristian Tejos, Alex Fornito, Gabriela Repetto, Nicolas Crossley
Summary: This study used resting-state functional MRI to examine striatocortical functional connectivity in 22q11.2DS patients and found a dorsal to ventral gradient of hypo- to hyperstriatocortical connectivity related to psychosis across patient groups. The study also identified abnormal functional connectivity in the ventral striatocortical system in 22q11.2DS patients, suggesting it may be a marker of illness risk.
SCHIZOPHRENIA BULLETIN
(2022)
Article
Psychiatry
Roy Salomon, Oliver Alan Kannape, Henrique Galvan Debarba, Mariia Kaliuzhna, Maude Schneider, Nathan Faivre, Stephan Eliez, Olaf Blanke
Summary: This study investigated full body agency in individuals with 22q11 deletion syndrome, a genetic predisposition for schizophrenia. The results showed deficits in monitoring actions and a bias towards erroneous attribution of actions to oneself, suggesting that deficits in delineation of the self may be a precursor to psychosis.
SCHIZOPHRENIA BULLETIN
(2022)
Article
Multidisciplinary Sciences
Antonio J. Santinha, Esther Klingler, Maria Kuhn, Rick Farouni, Sandra Lagler, Georgios Kalamakis, Ulrike Lischetti, Denis Jabaudon, Randall J. Platt
Summary: A direct in vivo single-cell CRISPR screening method, AAV-Perturb-seq, was used to dissect the phenotypic landscape of 22q11.2 deletion syndrome associated genes in the adult mouse brain prefrontal cortex. The study identified three 22q11.2-linked genes involved in neuronal functions, explaining approximately 40% of the observed transcriptional changes in a 22q11.2-deletion mouse model.
Article
Genetics & Heredity
Shengjie Ying, Tracy Heung, Zhaolei Zhang, Ryan K. C. Yuen, Anne S. Bassett
Summary: This study investigates the role of miRNA target genes in the elevated risk for schizophrenia in 22q11.2 deletion syndrome (22q11.2DS). The findings suggest that miRNA dysregulation involving genes affected by rare genome-wide CNVs may contribute to the increased risk for schizophrenia in individuals with 22q11.2DS. Gene set analyses further identify FMRP targets and genes involved in nervous system development and postsynaptic density as enriched miRNA target genes in the schizophrenia group. The most implicated miRNAs include miR-17-5p, miR-34a-5p, and miR-124-3p.
FRONTIERS IN GENETICS
(2022)
Review
Cell Biology
Thabo Magwai, Khanyiso Bright Shangase, Fredrick Otieno Oginga, Bonginkosi Chiliza, Thabisile Mpofana, Khethelo Richman Xulu
Summary: Schizophrenia is a neuropsychiatric disorder characterized by dissociation of thoughts, ideas, identity, and emotions. It has no central pathophysiological mechanism and precise diagnostic markers. Despite its high heritability, there are also environmental factors implicated in the development of schizophrenia. Epigenetic factors, such as DNA methylation, are thought to mediate the effects of environmental factors in the development of the disorder.