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Investigating TMEM260, a new protein linked to childhood kidney disease

22 February 2023

Dr Jessica Kepples’s work is supported by a Kidney Research UK fellowship grant of £40,000.

The problem

Structural heart defects and renal anomalies syndrome (SHDRA) is a very rare disease caused by loss of a protein called TMEM260. SHDRA causes serious developmental problems in the heart, brain, and kidneys, sadly often resulting in death in early childhood. Currently, our knowledge of how loss of TMEM260 causes this disease is very limited, particularly in relation to the kidneys.

Dr Jessica Kepple
Dr Jessica Kepple

The solution

Dr Kepple and her team will use laboratory models of the kidney (known as ‘kidney organoids’) to find out more about the role of TMEM260, where in the kidney it is required, and what its role is in normal development and function.

What this might mean for patients

This is an important first step towards identifying new targets for improved diagnosis and future treatments for SHDRA and possibly other more common kidney problems like cysts. As children with SHDRA sometimes also suffer from brain and heart problems, this study may provide valuable new information on the role of TMEM260 in other parts of the body. Finally, Dr Kepple’s work will support the use of kidney organoids as a tool to investigate other genetic diseases which affect the kidneys. 

"This research is so important to try and stop SHDRA causing so many early deaths in childhood. The fact that it could also have a knock on effect to help other cystic kidney conditions like mine, is a bonus and I am excited to see where this research goes."
Stephanie Smith

Renal Organoid
Renal organoid

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