Rearrangements of <i>ATP5L‐KMT2A</i> in acute lymphoblastic leukaemia

Ferrari, Anna; Rorà, Andrea Ghelli Luserna di; Domizio, Chiara; Papayannidis, Cristina; Simonetti, Giorgia; Hernández‐Rivas, Jesús María; Rondoni, Michela; Giglio, Fabio; Abruzzese, Elisabetta; Imovilli, Annalisa; Iacobucci, Ilaria; Calistri, Daniele; Martinelli, Giovanni

doi:10.1111/bjh.17265

Cited by 4 publications

(3 citation statements)

References 8 publications

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“…Whereas, current studies found that KMT2A was mainly associated with acute lymphoblastic leukemia and acute myeloid leukemia. [46,47] The reason for this has been uncovered, lymphoma relative pathways, such as HTLV-l infection, were abnormally activated because the number of lymphocytes, especially activated mononuclear cells, were rapidly increased during Mtb infection. [24] Extensive research has shown that miR-17-5p acts an immunomodulatory regulator of autophagy in mycobacteria-infected macrophages.…”

Section: Discussionmentioning

confidence: 99%

CeRNA network identified hsa-miR-17-5p, hsa-miR-106a-5p and hsa-miR-2355-5p as potential diagnostic biomarkers for tuberculosis

et al. 2023

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This study aims to analyze the regulatory non-coding RNAs in the pathological process of tuberculosis (TB), and identify novel diagnostic biomarkers. A longitudinal study was conducted in 5 newly diagnosed pulmonary tuberculosis patients, peripheral blood samples were collected before and after anti-TB treatment for 6 months, separately. After whole transcriptome sequencing, the differentially expressed RNAs (DE RNAs) were filtrated with |log2 (fold change) | > log2(1.5) and P value < .05 as screening criteria. Then functional annotation was actualized by gene ontology enrichment analysis, and enrichment pathway analysis was conducted by Kyoto Encyclopedia of Genes and Genomes database. And finally, the competitive endogenous RNA (ceRNA) regulatory network was established according to the interaction of ceRNA pairs and miRNA-mRNA pairs. Five young women were recruited and completed this study. Based on the differential expression analysis, a total of 1469 mRNAs, 996 long non-coding RNAs, 468 circular RNAs, and 86 miRNAs were filtrated as DE RNAs. Functional annotation demonstrated that those DE-mRNAs were strongly involved in the cellular process (n = 624), metabolic process (n = 513), single-organism process (n = 505), cell (n = 651), cell part (n = 650), organelle (n = 569), and binding (n = 629). Enrichment pathway analysis revealed that the differentially expressed genes were mainly enriched in HTLV-l infection, T cell receptor signaling pathway, glycosaminoglycan biosynthesis-heparan sulfate/heparin, and Hippo signaling pathway. CeRNA networks revealed that hsa-miR-17-5p, hsa-miR-106a-5p and hsa-miR-2355-5p might be regarded as potential diagnostic biomarkers for TB. Immunomodulation-related genes are differentially expressed in TB patients, and hsa-miR-106a-5p, hsa-miR-17-5p, hsa-miR-2355-5p might serve as potential diagnostic biomarkers.

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Section: Discussionmentioning

confidence: 99%

CeRNA network identified hsa-miR-17-5p, hsa-miR-106a-5p and hsa-miR-2355-5p as potential diagnostic biomarkers for tuberculosis

et al. 2023

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“…Similarly, the transcriptome-level fusion of the two neighboring genes ATP5L (also known as ATP5MG, official full name: ATP synthase, H+ transporting, mitochondrial Fo complex subunit G) with KMT2A (or MLL, official full name: lysine methyltransferase 2A), both of which map to chromosome band 11q23, could not be demonstrated to be the result of any detectable deletion between them. The ATP5L-KMT2A fusion transcript therefore most likely represents a read-through artefact (meaning that no DNA-level corollary exists to the transcriptome fusion transcript) of the two neighboring genes, which are both transcribed from centromere to telomere (103,104). In the Mitelman database, both SLC45A3-ELK4 and ATP5L-KMT2A are nevertheless listed as fusion genes caused by the inferred default translocations t(1;1)(q32;q32) and t(11;11)(q23;q23), respectively (2).…”

Section: Abstract Chromosomal Translocations In Cancer As Well As Ben...mentioning

confidence: 99%

Neoplasia-associated Chromosome Translocations Resulting in Gene Truncation

Panagopoulos

Heim

2022

Cancer Genomics Proteomics

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“…ATP5L may act as a marker of oncogenic cell transformation ( 14) and be upregulated using orchiectomy in the substantia nigra in aged males (15). Additionally, ATP5L-KMT2A gene fusion presents in leukemia (16,17). It can be seen from the above examinations that the association between ATP5MG and MetS-CVD development has not been shown.…”

Section: Introductionmentioning

confidence: 99%

Potential of ATP5MG to Treat Metabolic Syndrome-Associated Cardiovascular Diseases

Liu

Zhou

Chen

et al. 2022

Front. Cardiovasc. Med.

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IntroductionMetabolic syndrome-associated cardiovascular disease (MetS-CVD) is a cluster of metabolism-immunity highly integrated diseases. Emerging evidence hints that mitochondrial energy metabolism may be involved in MetS-CVD development. The physiopathological role of ATP5MG, a subunit of the F0 ATPase complex, has not been fully elucidated.MethodsIn this study, we selected ATP5MG to identify the immunity-mediated pathway and mine drugs targeting this pathway for treating MetS-CVD. Using big data from public databases, we dissected co-expressed RNA (coRNA), competing endogenous RNA (ceRNA), and interacting RNA (interRNA) genes for ATP5MG.ResultsIt was identified that ATP5MG may form ceRNA with COX5A through hsa-miR-142-5p and interplay with NDUFB8, SOD1, and MDH2 through RNA–RNA interaction under the immune pathway. We dug out 251 chemicals that may target this network and identified some of them as clinical drugs. We proposed five medicines for treating MetS-CVD. Interestingly, six drugs are being tested to treat COVID-19, which unexpectedly offers a new potential host-targeting antiviral strategy.ConclusionCollectively, we revealed the potential significance of the ATP5MG-centered network for developing drugs to treat MetS-CVD, which offers insights into the epigenetic regulation for metabolism-immunity highly integrated diseases.

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Rearrangements of ATP5L‐KMT2A in acute lymphoblastic leukaemia

Cited by 4 publications

References 8 publications

CeRNA network identified hsa-miR-17-5p, hsa-miR-106a-5p and hsa-miR-2355-5p as potential diagnostic biomarkers for tuberculosis

CeRNA network identified hsa-miR-17-5p, hsa-miR-106a-5p and hsa-miR-2355-5p as potential diagnostic biomarkers for tuberculosis

Neoplasia-associated Chromosome Translocations Resulting in Gene Truncation

Potential of ATP5MG to Treat Metabolic Syndrome-Associated Cardiovascular Diseases

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