Interim report of ARPKD PhD research programme

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PKD Charity-funded research at the University of Wolverhampton is exploring how a newly identified gene called ATMIN is involved in autosomal recessive polycystic kidney disease (ARPKD).

ARPKD is a rare disease that affects the kidneys and liver. It is usually diagnosed in babies and young children and occurs in roughly one in every 20,000 live births. ARPKD causes cysts to develop in the small tubes of the kidneys and causes problems with the liver, including the formation of scar tissue (called fibrosis), and a swollen bile duct. Sadly, 1 in every 3 babies with ARPKD dies during the first few weeks of life. However, a good number of children with milder forms of the disease survive to adulthood.

ARPKD symptoms, the severity of disease and the age that problems occur vary between different people. For example, some babies have serious lung and kidney problems, but others do not; and some children and adults have mainly kidney symptoms, while others have mainly liver problems. Children and adults with kidney failure will need either dialysis or a kidney transplant. Some may also need a liver transplant. There are no drugs to treat or slow down ARPKD.

ATMIN gene may be the key to slow down kidney damage in ARPKD

Research by Dr Evi Goggoldidou’s research group into the ATMIN gene could be key to finding ways to slow down kidney damage caused by the disease. This gene plays a role in the development of our kidneys when we are in the womb.

Arran Brown Rainbow FoundationPhD student Taylor Richards has recently discovered that changes in the gene may affect the age at which young children with ARPKD get kidney failure. He is now looking at how ATMIN interacts with other proteins found in kidney cells, including a protein called fibrocystin. This knowledge could help researchers to design new treatments for ARPKD. This is important because no treatments are currently available to slow down the kidney damage caused by the disease.

The research has been funded by a £48,000 joint research grant from the PKD Charity and the Arran Brown Rainbow Foundation.