Understanding liver disease in X-linked myotubular myopathy

X-linked myotubular myopathy (XLMTM) affects nearly all muscles that help the body to move (skeletal muscles) in people with the condition.  The condition also affects other parts of the body, including the liver. However, researchers are not sure why or how the liver is damaged and whether this is the same for everyone with XLMTM. This can make it difficult to identify treatments that could target and potentially treat the damage to the liver.

To learn more about what happens in a condition, researchers use models, such as mice. Previously, for XLMTM, these models have not shown any signs of liver disease. While they have helped researchers learn more about the condition, these models do not accurately show what happens in people with the condition. Professor James Dowling and team have recently created new mice models, which include liver damage and more accurately mirror the condition.

Professor Dowling and team will use the new XLMTM models to investigate the biological processes that lead to liver damage. The team will also try to understand why some people may have more severe liver damage compared to others. They will investigate if environmental factors, such as diet, could play a role in how severe the damage is.

Once they have identified the processes that could cause liver damage, the team will use models to test potential treatments already being developed for XLMTM. These potential treatments have already shown they may be able to help treat the damage to muscles. Testing them in these new models will help determine if they could also treat liver damage. This could help identify the best candidates to take forward for further testing.

Ultimately, understanding more about the causes of liver disease in XLMTM could help researchers identify and develop potential treatments.

Developing treatments can take a long time. Identifying potential factors which increase the severity of the condition, such as a certain diet or environmental exposures, could help develop advice for people living with the condition. This may reduce the severity of the liver damage.

This project is funded in collaboration with the Myotubular Trust.