Recent reports have highlighted the possibility that gene copy number variations play a role in the development of complex disorders and have suggested that some variations are very common in schizophrenic patients. We have carried out a comparative genomic hybridization screen using oligonucleotide probes of 891 candidate genes to look for very common copy number variance in schizophrenic patients. In addition we have developed a new approach for the detection and validation of putative copy number variation based upon established methods of allele quantification by DNA pooling and have used it to study 15 major candidates including dysbindin (DTNBP1), neuregulin (NRG1), RGS4 and DISC1. With the exception of positive control sequences, no copy number variations were found for any of the genes in any samples by the use of either technique. Our data for the genes studied are in line with the known existence and frequency of CNVs as reported by recent large scale studies and suggest that gene copy number variations are not more common in schizophrenics than controls, although large ethnic differences cannot be excluded.
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http://dx.doi.org/10.1002/ajmg.b.30645 | DOI Listing |
JCO Precis Oncol
January 2025
Sarcoma Translational Research Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.
Purpose: Less than 5% of GI stromal tumors (GISTs) are driven by the loss of the succinate dehydrogenase (SDH) complex, resulting in a pervasive DNA hypermethylation pattern that leads to unique clinical features. Advanced SDH-deficient GISTs are usually treated with the same therapies targeting KIT and PDGFRA receptors as those used in metastatic GIST. However, these treatments display less activity in the absence of alternative therapeutic options.
View Article and Find Full Text PDFIntern Emerg Med
January 2025
Department of Gastroenterology, Hepatology and Transplant Medicine, Medical Faculty, University of Duisburg-Essen, Hufelandstraße 55, 45147, Essen, Germany.
Gallstones are among the most frequent hepatobiliary conditions. Although in most cases, they remain asymptomatic, they can cause complications and, in such cases, invasive treatments like endoscopic retrograde cholangiography (ERC) or cholecystectomy are required. Here, we present the results of genetic testing of a single family with a high incidence of symptomatic gallstones and cholestatic liver phenotypes.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Translational Gerontology Branch, National Institute on Aging, NIH, Baltimore, MD, USA.
Background: The mitochondrial cascade hypothesis suggests that mitochondrial dysfunction plays an important role in the pathogenesis of Alzheimer's disease dementia. Recent data have shown that mitochondrial DNA copy number (mtDNAcn) in human blood is associated with dementia risk and cognitive function, but which specific cognitive measures or domains are associated with mitochondrial dysfunction and whether this relationship is affected by health deterioration such as physical frailty or mitochondrial somatic mutations is not clear.
Methods: We measured mtDNAcn and heteroplasmies using fastMitoCalc and MitoCaller, respectively, from UK Biobank Whole Genome Sequencing (WGS) data at study entry (2006-2010).
Alzheimers Dement
December 2024
University of California, Los Angeles Integrative Biology and Physiology (IBP), Los Angeles, CA, USA.
Background: APOE is in linkage disequilibrium with the length of poly-T repeats at the rs10524523 ('523) locus of the TOMM40 gene. APOE-ε3 is associated with short (S) and (VL) variants of '523 in white and Black individuals. In white individuals, APOE-ε4 is associated with the long (L) '523 variant, but is associated with '523-S, '523-L, and '523-VL variants in Black individuals.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Sistema Nacional de Investigación (SNI), Panamá, Panamá, Panama.
Background: We are conducting a biomarker-based study to describe the demographic and biomarker profiles of Panamanians. The objective of this report is to present the main findings on CSF, genetic and serological biomarkers' distribution and their association with cognition in a cohort of elderly people in Panama.
Method: Informed consent was applied to all participants, demographic data, medical history, and neuropsychological and functional status were collected, and non-fasting blood samples were obtained.
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