Understanding a newly discovered cause of limb girdle muscular dystrophy (LGMD)

Limb girdle muscular dystrophies (LGMDs) are a group of rare inherited conditions that cause muscles to become weaker over time. They mainly affect the muscles around the hips, thighs, shoulders, and upper arms, making everyday activities such as climbing stairs, getting up from a chair and walking increasingly difficult. Some, but not all, types of LGMD can cause breathing and heart problems.  

While researchers have discovered many of the genes that cause these conditions, people often still do not receive a genetic diagnosis because the cause of their muscle condition remains unknown. 

Recently, changes in a gene called LPCAT3 not previously linked to muscular dystrophy has been discovered. This suggests it may be a completely new form of LGMD. 

This newly identified gene now needs to be investigated to see if it’s responsible for the condition and to understand how it causes muscle damage. This could provide answers for families who have spent years searching for a diagnosis and improve our understanding of why muscles become weaker in muscle wasting conditions. 

Professor Volker Straub and his PhD student will search large collections of genetic data from people with undiagnosed muscle wasting conditions to identify people with changes in the same gene The researchers will then compare the symptoms, muscle scans and other clinical information of these people to see if they share the same condition. 

They will also study muscle cells in the laboratory to find out how these genetic changes affect muscle health. By understanding what goes wrong inside the cells, the team hopes to identify the processes that lead to muscle damage. 

This work will help confirm whether the LPCAT3 gene does cause limb girdle muscular dystrophy and will provide the foundation for future research into new treatments. 

For many families, receiving a genetic diagnosis is the first step towards understanding their condition and accessing appropriate care and support. This research could help provide answers for people whose muscle wasting condition has remained unexplained for many years. 

It will also improve our understanding of how muscle wasting conditions develop, which is essential for designing better treatments. Although this research is at an early stage, discovering a new cause of limb girdle muscular dystrophy could open up new opportunities for diagnosis, future therapies and improved care for people living with these conditions.