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The molecular biology of polycystic kidney disease
N S Murcia1, R P Woychik, E D Avner
1Department of Pediatrics, Rainbow Babies and Children's Hospital and Case Western Reserve University, Cleveland, Ohio 44106, USA.
Abstract:
In recent years there have been a number of developments in polycystic kidney disease (PKD) research. The genes associated with the predominant forms of autosomal dominant PKD have been cloned, and the gene associated with a mouse model for autosomal recessive PKD has been identified and characterized. Other studies have yielded new information regarding the role of the epidermal growth factor receptor gene in promoting renal cyst formation. In this review article we summarize recent published data on the molecular genetics of autosomal dominant and autosomal recessive PKD and provide a working model of how multiple genes participate in the PKD disease pathway.
Insights
Recent polycystic kidney disease (PKD) research has identified genes for autosomal dominant PKD and characterized the gene for autosomal recessive PKD. A model for how multiple genes contribute to PKD pathways is presented.
Area of Science:
- Genetics
- Molecular Biology
- Nephrology
Background:
- Polycystic kidney disease (PKD) is a group of genetic disorders.
- Autosomal dominant PKD (ADPKD) and autosomal recessive PKD (ARPKD) are the main forms.
- Recent advancements have shed light on the genetic underpinnings of PKD.
Purpose of the Study:
- To review recent molecular genetics findings in ADPKD and ARPKD.
- To present a working model of gene involvement in PKD.
- To highlight the role of specific genes in renal cyst formation.
Main Methods:
- Literature review of recent publications on PKD genetics.
- Analysis of gene cloning and characterization data.
- Synthesis of information to propose a molecular pathway model.
Main Results:
- Genes for the major forms of ADPKD have been successfully cloned.
- The gene responsible for a mouse model of ARPKD has been identified and characterized.
- The epidermal growth factor receptor gene's role in promoting renal cyst formation has been elucidated.
Conclusions:
- Significant progress has been made in understanding the genetic basis of PKD.
- Multiple genes are implicated in the complex PKD disease pathway.
- Further research into these genetic factors may lead to novel therapeutic strategies.