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Single-cell transcriptomics identifies the common perturbations of monocyte/macrophage lineage cells in inflammaging of bone marrow.
J Orthop Translat
January 2025
Department of Orthopaedics, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200233, China.
Background: Bone marrow inflammaging is a low-grade chronic inflammation that induces bone marrow aging. Multiple age-related and inflammatory diseases involve bone marrow inflammaging. Whether common pathological pathways exist in bone marrow inflammaging remains unclear.
View Article and Find Full Text PDFTelomerase in cancer- ongoing quest and future discoveries.
Mol Biol Rep
January 2025
Department of Integrative Biology, School of Bio-Sciences and Technology, Vellore Institute of Technology, Vellore, Tamil Nadu, 632014, India.
Telomerase, constituted by the dynamic duo of telomerase reverse transcriptase (TERT), the catalytic entity, and an integral RNA component (TERC), is predominantly suppressed in differentiated human cells due to postnatal transcriptional repression of the TERT gene. Dysregulation of telomerase significantly contributes to cancer development via telomere-dependent and independent mechanisms. Telomerase activity is often elevated in advanced cancers, with TERT reactivation and upregulation of TERC observed in early tumorigenesis.
View Article and Find Full Text PDFHemophagocytic lymphohistiocytosis as the initial manifestation of bone marrow failure in a child with a TERC variant telomere biology disorder.
Ther Adv Rare Dis
January 2025
Department of Pediatrics, Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru.
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening systemic hyperinflammatory syndrome, rarely associated with bone marrow failure (BMF). Telomere biology disorders (TBD) are caused by inherited defects in telomerase processes and can have heterogeneous presentations including idiopathic pulmonary fibrosis, cirrhosis, and BMF. We report a case of a 10-year-old male from Lima, Peru, who presented with HLH as the initial manifestation of a TBD.
View Article and Find Full Text PDFIntegration of eQTL and multi-omics comprehensive analysis of triacylglycerol synthase 1 (TGS1) as a prognostic and immunotherapeutic biomarker across pan-cancer.
Int J Biol Macromol
January 2025
The Second Clinical Medical College, Cheeloo College of Medicine, Shandong University, Jinan 250033, Shandong, PR China; Children's Medical Center, The Second Hospital of Shandong University, Jinan 250033, PR China. Electronic address:
An increasing number of expression quantitative trait loci (eQTLs) have been linked to tumorigenesis. In this study, we used Mendelian randomization (MR) to identify a novel cancer susceptibility gene, Trimethylguanosine Synthase 1 (TGS1). TGS1-induced hypermethylation at the 5' end of human telomerase RNA (hTR) impedes hTR accumulation, decreasing telomerase assembly factor levels and thus limiting telomere elongation, a crucial factor in tumor progression.
View Article and Find Full Text PDFElevated Telomeric Repeat-Containing RNA (TERRA) Levels Linked to Telomere Dysfunction and Telomerase Inactivity in Blood Cells of Children With Aplastic Anemia.
Cureus
October 2024
Department of Biochemistry and Biophysics, University of Kalyani, Kalyani, IND.
Article Synopsis
- Aplastic anemia (AA) is a condition that leads to low blood cell counts and is linked to issues with telomeres, which are protective caps on chromosomes.
- A study of eleven AA patients between ages one and twelve revealed clinical symptoms like upper limb anomalies and short stature, alongside significantly shorter telomere lengths compared to healthy peers.
- The research indicates that the telomere maintenance pathway is compromised in these patients, with treatments involving androgen and prednisolone reducing the levels of TERRA, suggesting a connection between telomere dysfunction and AA in younger patients.
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