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Published on: September 1, 2015
Differential Expression of PKD2-Associated Genes in Autosomal Dominant Polycystic Kidney Disease
Yeon Joo Yook1, Yu Mi Woo, Moon Hee Yang
1Department of Biological Science, Sookmyung Women's University, Seoul 140-742, Korea.
Abstract:
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by formation of multiple fluid-filled cysts that expand over time and destroy renal architecture. The proteins encoded by the PKD1 and PKD2 genes, mutations in which account for nearly all cases of ADPKD, may help guard against cystogenesis. Previously developed mouse models of PKD1 and PKD2 demonstrated an embryonic lethal phenotype and massive cyst formation in the kidney, indicating that PKD1 and PKD2 probably play important roles during normal renal tubular development. However, their precise role in development and the cellular mechanisms of cyst formation induced by PKD1 and PKD2 mutations are not fully understood. To address this question, we presently created Pkd2 knockout and PKD2 transgenic mouse embryo fibroblasts. We used a mouse oligonucleotide microarray to identify messenger RNAs whose expression was altered by the overexpression of the PKD2 or knockout of the Pkd2. The majority of identified mutations was involved in critical biological processes, such as metabolism, transcription, cell adhesion, cell cycle, and signal transduction. Herein, we confirmed differential expressions of several genes including aquaporin-1, according to different PKD2 expression levels in ADPKD mouse models, through microarray analysis. These data may be helpful in PKD2-related mechanisms of ADPKD pathogenesis.
Insights
Mutations in PKD genes cause autosomal dominant polycystic kidney disease (ADPKD), leading to kidney cyst formation. This study investigates PKD2
Area of Science:
- Nephrology and Molecular Biology
- Genetics and Developmental Biology
Background:
- Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by kidney cyst development, often caused by mutations in PKD1 or PKD2 genes.
- The precise roles of PKD1 and PKD2 proteins in renal tubular development and the cellular mechanisms underlying ADPKD cystogenesis remain incompletely understood.
- Previous mouse models highlighted the critical importance of PKD1 and PKD2 during kidney development, but detailed molecular pathways are yet to be elucidated.
Purpose of the Study:
- To investigate the cellular mechanisms and molecular pathways involved in cyst formation in ADPKD by examining the role of PKD2.
- To identify genes and biological processes affected by altered PKD2 expression levels in the context of ADPKD.
- To provide insights into PKD2-related pathogenesis for potential therapeutic targets in ADPKD.
Main Methods:
- Generation of Pkd2 knockout and PKD2 transgenic mouse embryo fibroblasts.
- Utilized mouse oligonucleotide microarrays to analyze messenger RNA (mRNA) expression profiles.
- Compared gene expression patterns in cells with altered Pkd2 status to identify differentially expressed genes.
Main Results:
- Microarray analysis identified numerous differentially expressed genes in response to Pkd2 knockout or overexpression.
- Affected genes were predominantly involved in critical cellular processes including metabolism, transcription, cell adhesion, cell cycle, and signal transduction.
- Confirmed differential expression of specific genes, such as aquaporin-1, correlating with varying PKD2 expression levels in ADPKD mouse models.
Conclusions:
- Altered PKD2 expression significantly impacts a wide range of cellular functions, contributing to ADPKD pathogenesis.
- The identified differentially expressed genes provide potential molecular targets for understanding and treating ADPKD.
- These findings offer valuable data for elucidating PKD2-mediated mechanisms in the development of autosomal dominant polycystic kidney disease.
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