c-Myc Signalling in the Genetic Mechanism of Polycystic Kidney Disease

The Myc family of transcription factors regulates major biological processes such as proliferation, stem/progenitor cell pluripotency, metabolism, apoptosis, cell growth and differentiation. The most-studied member c-Myc is essential in embryonic development and cellular homeostasis. Dysregulation o...

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collection Directory of Open Access Books
description The Myc family of transcription factors regulates major biological processes such as proliferation, stem/progenitor cell pluripotency, metabolism, apoptosis, cell growth and differentiation. The most-studied member c-Myc is essential in embryonic development and cellular homeostasis. Dysregulation of c-Myc protein function is not only associated with malignant transformation and human tumors but is also implicated in autosomal dominant polycystic kidney disease (ADPKD), a human genetic disorder, considered a neoplasia in disguise. Studies from human ADPKD kidneys, caused by mutation in the PKD1 or PKD2 genes, revealed high expression of c-Myc with strong signal detected over cystic tubular epithelium. Consistent with human ADPKD pathogenesis, mouse models produced by dysregulation of Pkd1 and Pkd2 gene dosage show stimulation of renal c-Myc expression. Induced renal c-Myc expression is also observed in several non-orthologous animal models of PKD. Significantly, c-Myc overexpression specifically targeted to renal epithelial cells in transgenic mice closely reproduces human ADPKD. The specific causal effect of c-Myc in PKD was demonstrated by targeting different oncogenes which could not mimic the PKD phenotype. In fact, c-Myc was shown to be a major mediator of renal cystogenesis through various mechanisms and signalling pathways. Most importantly, inhibition of c-Myc in vivo, directly by repressing translation or indirectly with a small-molecule inhibitor, significantly delayed cystogenesis in the mouse. In summary, c-Myc is a central node in the pathogenesis of Pkd1/Pkd2 mouse models and of human ADPKD development and progression.
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spelling doab-20.500.12854ir-1366562024-05-02T07:46:34Z c-Myc Signalling in the Genetic Mechanism of Polycystic Kidney Disease mouse models, Myc, polycystic kidney disease, renal development, signalling M The Myc family of transcription factors regulates major biological processes such as proliferation, stem/progenitor cell pluripotency, metabolism, apoptosis, cell growth and differentiation. The most-studied member c-Myc is essential in embryonic development and cellular homeostasis. Dysregulation of c-Myc protein function is not only associated with malignant transformation and human tumors but is also implicated in autosomal dominant polycystic kidney disease (ADPKD), a human genetic disorder, considered a neoplasia in disguise. Studies from human ADPKD kidneys, caused by mutation in the PKD1 or PKD2 genes, revealed high expression of c-Myc with strong signal detected over cystic tubular epithelium. Consistent with human ADPKD pathogenesis, mouse models produced by dysregulation of Pkd1 and Pkd2 gene dosage show stimulation of renal c-Myc expression. Induced renal c-Myc expression is also observed in several non-orthologous animal models of PKD. Significantly, c-Myc overexpression specifically targeted to renal epithelial cells in transgenic mice closely reproduces human ADPKD. The specific causal effect of c-Myc in PKD was demonstrated by targeting different oncogenes which could not mimic the PKD phenotype. In fact, c-Myc was shown to be a major mediator of renal cystogenesis through various mechanisms and signalling pathways. Most importantly, inhibition of c-Myc in vivo, directly by repressing translation or indirectly with a small-molecule inhibitor, significantly delayed cystogenesis in the mouse. In summary, c-Myc is a central node in the pathogenesis of Pkd1/Pkd2 mouse models and of human ADPKD development and progression. Published 2024-05-02T07:46:25Z 2024-05-02T07:46:25Z 2015-11-18 chapter 978-0-9944381-0-2 https://directory.doabooks.org/handle/20.500.12854/136656 eng image/jpeg Attribution-NonCommercial-NoDerivatives 4.0 International https://exonpublications.com/index.php/exon/article/view/78 Exon Publications 10.15586/codon.pkd.2015.ch10 10.15586/codon.pkd.2015.ch10 2d6001a3-9e06-4979-bf02-6974e313eb24 978-0-9944381-0-2 231-257 Brisbane(AU) open access
spellingShingle mouse models, Myc, polycystic kidney disease, renal development, signalling
M
c-Myc Signalling in the Genetic Mechanism of Polycystic Kidney Disease
title c-Myc Signalling in the Genetic Mechanism of Polycystic Kidney Disease
title_full c-Myc Signalling in the Genetic Mechanism of Polycystic Kidney Disease
title_fullStr c-Myc Signalling in the Genetic Mechanism of Polycystic Kidney Disease
title_full_unstemmed c-Myc Signalling in the Genetic Mechanism of Polycystic Kidney Disease
title_short c-Myc Signalling in the Genetic Mechanism of Polycystic Kidney Disease
title_sort c myc signalling in the genetic mechanism of polycystic kidney disease
topic mouse models, Myc, polycystic kidney disease, renal development, signalling
M
topic_facet mouse models, Myc, polycystic kidney disease, renal development, signalling
M
url https://directory.doabooks.org/handle/20.500.12854/136656