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Studying how communication between cells can lead to cyst development in autosomal recessive polycystic kidney disease (ARPKD).

12 June 2024

Dr Rebecca Walker from the University of Sheffield has received a Paediatric Award Grant of £240,000 to study how cell signalling can lead to the growth of kidney cysts in ARPKD and how to prevent it  

Since little is known about the function of PKHD1, the research will provide some important information about the function and interactions of the gene product, opening up potential future pathways for research and avenues for treatment. Dr Rebecca Walker 

Female research standing in front of her lab bench
Dr Rebecca Walker

The problem 

Polycystic kidney disease (PKD) is an inherited disorder where fluid filled sacs, called cysts, form in the kidneys. Over time, this can affect function and lead to kidney failure.  

Autosomal recessive polycystic kidney disease (ARPKD) is a form of the disorder that is mainly caused by a fault in a specific gene called PKHD1. The condition occurs when both parents have a copy of this faulty gene (but do not have the condition themselves) and pass it on to their child.

ARPKD causes rapid cyst growth in the kidneys and can cause kidney failure soon after birth in affected children. The growth of cysts makes the kidneys much larger than normal and may impact the development of other organs such as the liver, leading to significant complications. Although ARPKD is relatively rare, the disease has a big impact on children and their families and often means a lifetime of care. It is important for families to understand the causes and impact of the disorder, and for researchers to understand how these genetic alterations occur so that they can work on preventative treatments.  

The solution  

Rebecca has found that the PKHD1 gene interacts with another gene, related to PKD. Each of these genes makes a protein which work together to convert messages from cilia and tell the cell how to react. Rebecca will investigate what goes wrong when these proteins are faulty, and their messages cannot be interpreted correctly by the cell. She hopes to understand how this affects messaging from the cilia.    

Cilia

Cilia are tiny, antennae-like structures on the surface of cells that act as sensors. The cell uses the information from cilia to change and adapt to its surroundings. When cilia are not working properly, cells grow incorrectly causing the kidney to develop cysts.  

What this might mean for kidney patients  

This study may help researchers to better understand the development of cysts in ARPKD, providing a foundation for future targeted treatments in PKD.   

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