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News & Events August 9, 2023

Discovery changes the way geneticists analyse debilitating muscle diseases

When several people in an extended family suffer from similar muscle weakening symptoms, the cause is typically a genetic disease such as a muscular dystrophy. However, the challenge for geneticists lies in identifying the exact genetic mutation causing the problem.

An international collaboration, including geneticists from Perth’s Harry Perkins Institute of Medical Research (the Perkins) and researchers in Spain, has found that the cause of a new, previously unrecognised, muscular dystrophy is a protein never before recognised as a possible cause of muscle weakening diseases.

“Until this point, we didn’t know this protein was important in muscle function. This discovery is significant – it opens up a whole new area of biology in the hunt for the causes of muscle weakening diseases,” said Associate Professor Gina Ravenscroft, who heads up the Rare Disease Genetics and Functional Genomics Group at the Harry Perkins Institute.

The discovery came after DNA from seventeen affected people from two large families in Spain was sent to Perth for analysis.

“We wouldn’t have thought of looking at this protein in relation to muscle disease if not for these families.”

“We found that just a tiny missing portion of the end of the protein can cause a muscular dystrophy.

“Most of what was known about this protein was that it affected other body parts and was said to be involved in cancer aggression, but nothing about muscle function,” A/Prof Ravenscroft said.

Internationally regarded geneticist Emeritus Professor Nigel Laing AO who has worked for 10 years with Spanish neurologist and geneticist, Dr Macarena Cabrera-Serrano, who collected the DNA from the two large families, said this publication will open up new ways to analyse the DNA of families suffering muscle weakening diseases.

“There will be labs all over the world with patients with these protein variants without knowing what to do with them. This opens the way for new analysis and will likely lead to increased diagnosis of a range of muscular dystrophies”, Professor Laing said.

Identifying the causes of diseases is a critical step in the process of developing new treatments for patients.

‘Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy’ published by Oxford University Press in neurology journal ‘Brain’