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Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
Published on: June 23, 2015
Defective metabolism in polycystic kidney disease: potential for therapy and open questions
Isaline Rowe1, Alessandra Boletta1
1Division of Genetics and Cell Biology, Dibit San Raffaele Scientific Institute, Milan, Italy.
Abstract:
Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder characterized by bilateral renal cyst formation. The disease is caused by mutations in either the PKD1 or the PKD2 gene. Progress has been made in understanding the molecular basis of the disease leading to the general agreement on ADPKD being a loss-of-function disease. Identification of signalling cascades dysfunctional in the cystic epithelia has led to several pre-clinical studies of animal models using a variety of inhibitors to slow disease progression. These were followed by clinical trials, some of which generated promising results, although an approved therapy is still lacking. Here, we summarize and discuss recent work providing evidence that metabolic alterations can be observed in ADPKD. In particular, we will focus our discussion on the potential role of glucose metabolism in the pathogenesis of ADPKD. These recent findings provide a new perspective for the understanding of the pathobiology of ADPKD and open potential new avenues for therapeutical approaches. At the same time, these studies also raise important and intriguing biological and medical questions that will need to be addressed experimentally prior to embracing a more enthusiastic view of the applicability of the results.
Insights
Autosomal dominant polycystic kidney disease (ADPKD) involves kidney cyst formation due to gene mutations. Recent research highlights metabolic changes, particularly in glucose metabolism, offering new therapeutic insights for this common genetic disorder.
Area of Science:
- Nephrology
- Genetics
- Metabolic Disorders
Background:
- Autosomal dominant polycystic kidney disease (ADPKD) is a prevalent genetic kidney disorder.
- Characterized by bilateral renal cyst formation, ADPKD stems from mutations in PKD1 or PKD2 genes.
- ADPKD is understood as a loss-of-function disease, with identified dysfunctional signaling cascades in cystic epithelia.
Purpose of the Study:
- To review recent evidence on metabolic alterations in ADPKD.
- To focus on the specific role of glucose metabolism in ADPKD pathogenesis.
- To explore novel therapeutic avenues suggested by these findings.
Main Methods:
- Review of recent scientific literature and pre-clinical studies.
- Analysis of animal models investigating ADPKD progression.
- Discussion of clinical trial outcomes and ongoing research.
Main Results:
- Evidence suggests significant metabolic alterations occur in ADPKD.
- Glucose metabolism appears to play a crucial role in the disease's development.
- While promising, therapeutic strategies require further investigation.
Conclusions:
- Metabolic alterations, especially in glucose metabolism, offer a new perspective on ADPKD pathobiology.
- These findings open potential new therapeutic approaches for ADPKD.
- Further experimental research is needed to validate these findings and their clinical applicability.
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