As a preliminary step in the search for chromosomal location of a susceptibility gene predisposing to schizophrenia, cytogenetic screening of patients might be useful. Search for chromosomal aberrations has successfully directed and accelerated the identification of several disease genes, such as the Duchenne muscular dystrophy gene, retinoblastoma, Burkitt's lymphoma and chronic myeloïd leukemia. Although karyotypes abnormalities do not account for a large portion of cases of Schizophrenia, the two candidate regions predisposing to this disease resulted from observation of chromosomal abnormalities. First, the identification of a partial trisomy of the 5q11-q13 region (Basset et al., 1988) led Sherrington et al. (1988) to report a positive linkage with markers localized on the long arm of chromosome 5, which has not yet been replicated (Kauffman et al., 1989; Kennedy et al., 1988; St Clair et al., 1989). Second, on the basis of frequent cytogenetic abnormalities of the sex chromosome (DeLisi, 1985) in addition to epidemiological observations, Crow (1988) suggested that there could be a locus for psychosis within the pseudoautosomal region, a data which has been recently confirmed (Collinge et al., 1991). With the hypothesis that such aberrations could be more frequent among schizophrenics who have at least one affected first-degree relative, we undertook cytogenetic screening on a sample recruited from consecutive psychiatric admissions to a Psychiatric facility (Hôpital Saint Paul) involving patients living in a limited geographical area on the island of La Réunion, a French Department in the Indian Ocean.(ABSTRACT TRUNCATED AT 250 WORDS)
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Int J Mol Sci
January 2025
Research Laboratory LR12ES04, Faculty of Medicine of Sousse, University of Sousse, Sousse 4002, Tunisia.
The interplay between the cytokine network and antipsychotic treatment in schizophrenia remains poorly understood. This study aimed to investigate the impact of psychotropic medications on serum levels of IFN-γ, IL-4, TGF-β1, IL-17, and BAFF, and to explore their relationship with psychopathological features. We recruited 63 patients diagnosed with schizophrenia in the acute phase, all of whom were either drug-naïve or had been drug-free for at least three months.
View Article and Find Full Text PDFMol Genet Genomic Med
January 2025
Laboratory of Ontogenetics, Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.
Background: Chromosome 3q29 duplication syndrome is a rare chromosomal disorder with a frequency of 1:5000 in patients with a neurodevelopmental phenotype. The syndrome is characterized by phenotypic polymorphism and reduced penetrance.
Methods: Patients were investigated by performing a cytogenetic analysis of GTG-banded metaphases, aCGH with the SurePrint G3 Human CGH Microarray 8×60K, qPCR, FISH, and WES.
Neurologia (Engl Ed)
May 2024
Human Cytogenetics and Genomics Laboratory, Faculty of Allied Health Sciences, Chettinad Hospital and Research Institute, Chettinad Academy of Research and Education, Kelambakkam 603103, Tamilnadu, India. Electronic address:
Introduction: Genetic polymorphism in the BDNF gene has been found to cause neuronal alterations and has been identified as a causal factor for many neuropsychiatric disorders. Therefore, various neurological case-control studies and meta-analyses have been conducted to find the possible link between BDNF and susceptibility to schizophrenia.
Method: This meta-analysis gathered data from 25 case-control studies including a total of 8384 patients with schizophrenia and 8821 controls in order to identify the relationship between the rs6265 single nucleotide polymorphism and the disease, evaluating the combined odds ratio and 95% confidence intervals under 5 different genetic models.
Transl Psychiatry
December 2023
Genetic Basis of Mood & Anxiety Disorders Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, 35 Convent Drive, Bethesda, MD, 20892, USA.
Genome-wide (GWAS) and copy number variant (CNV) association studies have reproducibly identified numerous risk alleles associated with bipolar disorder (BD), major depressive disorder (MDD), and schizophrenia (SCZ), but biological characterization of these alleles lags gene discovery, owing to the inaccessibility of live human brain cells and inadequate animal models for human psychiatric conditions. Human-derived induced pluripotent stem cells (iPSCs) provide a renewable cellular reagent that can be differentiated into living, disease-relevant cells and 3D brain organoids carrying the full complement of genetic variants present in the donor germline. Experimental studies of iPSC-derived cells allow functional characterization of risk alleles, establishment of causal relationships between genes and neurobiology, and screening for novel therapeutics.
View Article and Find Full Text PDFJ Genet
June 2023
Department of Anthropology and Human Genetics, Faculty of Science, Charles University, Vinicna 7, 128 00 Prague,Czech Republic.
Schizophrenia (SZ) is a highly inherited disease that affects ~0.5% of the population. The genetic and environmental factors are involved in its aetiology and they interact with each other.
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