Background: We compared the T cell antigen receptor (TCR-BV) gene families of peripheral blood mononuclear cells (PMBC) between children with tuberculosis (TB) and those inoculated with the Bacille Calmette Guerin (BCG) vaccine.
Methods: The total RNA was extracted from PMBC of 15 TB children, 15 BCG-vaccinated children and 15 healthy controls. The RNAs were reverse-transcribed and amplified by polymerase chain reaction (PCR). PCR products were separated on 1.5% agarose gel and analyzed with the Genescan technique.
Results: Some TCR-BV gene families in TB children and BCG-vaccinated children exhibited a blur band in the predicted position on 1.5% agarose gel, some showed a distinct or fainted band. In general, many shared predominant clonal TCR-BV gene families (Vβ2, Vβ16, Vβ21, Vβ22) and the restricted-expression families (Vβ14 and Vβ17). All the gene families of the control children only exhibited blur bands and polyclonal.
Conclusions: The skewed profile of TCR-BV gene families in TB children and BCG-vaccinated children are similar, which may probably explain the protective effects of BCG-vaccine against TB in children.
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Pediatr Rheumatol Online J
December 2024
Translational Genetics Research Group, La Fe Health Research Institute (IIS La Fe), Avenida Fernando Abril Martorell nº 106 Tower A, 7th Floor, Valencia, Spain.
Background: Aicardi-Goutières Syndrome is a monogenic type 1 interferonopathy with infantile onset, characterized by a variable degree of neurological damage. Approximately 7% of Aicardi-Goutières Syndrome cases are caused by pathogenic variants in the ADAR gene and are classified as Aicardi-Goutières Syndrome type 6. Here, we present a new homozygous pathogenic variant in the ADAR gene.
View Article and Find Full Text PDFBMC Microbiol
December 2024
Winogradsky Institute of Microbiology Federal Research Center Fundamentals of Biotechnology Russian Academy of Sciences, 60 let Oktyabrya Prospect, 7 Build.2, Moscow, Russia.
The Kuril Islands are located in the Far-East of Russia and enriched with shallow and terrestrial hot springs. Prokaryotic diversity of Kuril geothermal environments has been studied fragmentarily and mainly by culture-dependent methods. We performed the first large-scale investigation of microbial communities, inhabited more than 30 terrestrial hot springs of Kunashir and Iturup Islands, analyzed by 16S rRNA gene fragment amplicon sequencing, together with chemical analysis of thermal waters and sediments.
View Article and Find Full Text PDFJoint Bone Spine
December 2024
Key Laboratory of Trace Elements and Endemic Diseases of National Health and Family Planning Commission, School of Public Health, Health Science Center, Xi'an Jiaotong University, No. 76 Yan Ta West Road, 710061 Xi'an, China. Electronic address:
Objective: This study aimed to investigate the associations of multi-omics polygenic risk score (PRS) and rheumatoid arthritis (RA) to identify potential genes/proteins and biological pathways.
Methods: Based on multi-omics data from 48,813 participants in the INTERVAL cohort, we calculated multi-omics PRS for 13,646 mRNAs (RNASeq), 308 proteins (Olink), 2,380 proteins (SomaScan), 726 metabolites (Metabolon), and 141 metabolites (Nightingale). Using the generalized linear model, we first evaluated the associations between multi-omics PRS and RA in 58,813 UK Biobank participants.
Gene
December 2024
Department of Medical Genetics/Experimental Education/Administration Center, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, China; Guangdong Provincial Key Laboratory of Single Cell Technology and Application, Guangzhou 510515, China; Department of Fetal Medicine and Prenatal Diagnosis, Zhujiang Hospital, Southern Medical University, Guangzhou 510280, China. Electronic address:
Background/aim: Autosomal-recessive carnitine-acylcarnitine translocase deficiency (CACTD) is a rare disorder of long-chain fatty acid oxidation caused by variants in the SLC25A20 gene. Under fasting conditions, most newborns with severe CACTD experience sudden cardiac arrest and hypotonia, often leading to premature death due to rapid disease progression. Understanding of genetic factors and pathogenic mechanisms in CACTD is essential for its diagnosis, treatment, and prevention.
View Article and Find Full Text PDFInt J Biol Macromol
December 2024
Department of Animal Genetics and Breeding, National Engineering Laboratory for Animal Breeding, College of Animal Science and Technology, China Agricultural University, Beijing 100193, China; Key Laboratory of Animal Genetics, Breeding and Reproduction of the Ministry of Agriculture and Rural Affairs, College of Animal Science and Technology, China Agricultural University, Beijing 100193, China; CAU-SC Advanced Agricultural & Industrial institute, CAU-SCCD Advanced Agricultural & Industrial institute, China Agricultural University, Chengdu 611430, China. Electronic address:
Litter size in pigs is affected by factors such as ovulation number, embryonic survival, and uterine environment conditions. Endometrial epithelial and stromal cells represent the first site of contact between the embryo and sows; therefore, dynamic changes in the growth and development of these cells are among the major factors affecting the intrauterine environment and implantation. Bone morphogenetic protein receptor type-1B (BMPR1B) is a receptor of the bone morphogenetic protein (BMP) family that has been identified as a candidate gene for reproductive traits in pigs.
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