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Unraveling MLL1-fusion leukemia: Epigenetic revelations from an iPS cell point mutation.
J Biol Chem
November 2024
Department of Biochemistry and Molecular Biology, SUNY Upstate Medical University, Syracuse, New York, United States. Electronic address:
Our understanding of acute leukemia pathology is heavily dependent on 11q23 chromosomal translocations involving the mixed lineage leukemia-1 (MLL1) gene, a key player in histone H3 lysine 4 (H3K4) methylation. These translocations result in MLL1-fusion (MLL1) proteins that are thought to drive leukemogenesis. However, the mechanism behind increased H3K4 trimethylation in MLL1-leukemic stem cells (MLL1-LSCs), following loss of the catalytic SET domain of MLL1 (known for H3K4 monomethylation and dimethylation) remains unclear.
View Article and Find Full Text PDFIncreased SNAI2 expression and defective collagen adhesion in cells with pediatric dementia, juvenile ceroid lipofuscinosis.
Biochem Biophys Res Commun
December 2024
Department of Biotechnology, College of Life and Health Sciences, Hoseo University, Baebang, Asan, Chungnam, 31499, South Korea. Electronic address:
Article Synopsis
- This study investigates the impact of mutations in the CLN3 gene on cell adhesion in juvenile neuronal ceroid lipofuscinosis (JNCL), a type of pediatric dementia linked to neurodegenerative diseases like Alzheimer's.
- Researchers found that affected cells showed increased expression of genes related to the epithelial-mesenchymal transition (EMT), specifically the SNAI2 gene, which may disrupt neuronal development.
- Treating JNCL lymphoblasts with all-trans retinoic acid (ATRA) improved their adhesion to certain surfaces, suggesting that targeting EMT could potentially mitigate some effects of neurodegeneration caused by CLN3 mutations.
P4HA2 involved in SLUG-associated EMT predicts poor prognosis of patients with KRAS-positive colorectal cancer.
Med Mol Morphol
September 2024
Department of Pathology, Faculty of Medicine, Assiut University, Assiut, Egypt.
This study aimed to examine the immunohistochemical expression of epithelial-mesenchymal transition biomarkers: P4HA2 and SLUG in colorectal carcinoma (CRC) specimens, then to assess their relation to clinicopathological features including KRAS mutations and patients' survival, and finally to study the correlation between them in CRC. The result of this study showed that SLUG and P4HA2 were significantly higher in association with adverse prognostic factors: presence of lympho-vascular invasion, perineural invasion, higher tumor budding, tumor stage, presence of lymph node metastasis, and presence of distant metastasis. CRC specimens with KRAS mutation were associated with significant higher SLUG and P4HA2 expression.
View Article and Find Full Text PDFIntegrative analysis of chromatin accessibility and transcriptome landscapes in the induction of peritoneal fibrosis by high glucose.
J Transl Med
March 2024
Department of Nephrology, The First Hospital of Lanzhou University, Lanzhou, Gansu, People's Republic of China.
Background: Peritoneal fibrosis is the prevailing complication induced by prolonged exposure to high glucose in patients undergoing peritoneal dialysis.
Methods: To elucidate the molecular mechanisms underlying this process, we conducted an integrated analysis of the transcriptome and chromatin accessibility profiles of human peritoneal mesothelial cells (HMrSV5) during high-glucose treatment.
Results: Our study identified 2775 differentially expressed genes (DEGs) related to high glucose-triggered pathological changes, including 1164 upregulated and 1611 downregulated genes.
Loss of p53 epigenetically modulates epithelial to mesenchymal transition in colorectal cancer.
Transl Oncol
May 2024
Institute of Bioinformatics and Applied Biotechnology (IBAB), Bangalore, India. Electronic address:
Epithelial to Mesenchymal transition (EMT) drives cancer metastasis and is governed by genetic and epigenetic alterations at multiple levels of regulation. It is well established that loss/mutation of p53 confers oncogenic function to cancer cells and promotes metastasis. Though transcription factors like ZEB1, SLUG, SNAIL and TWIST have been implied in EMT signalling, p53 mediated alterations in the epigenetic machinery accompanying EMT are not clearly understood.
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