Researchers are ramping up their investigation into a mysterious muscle wasting disease.

Professor Merrilee Needham and Dr Jerome Coudert are leading a two pronged investigation to reduce the impact of the rare but devastating condition, Inclusion Body Myositis (IBM).

This inflammatory muscle disease causes chronic muscle inflammation and damage leading to progressive weakness of limbs and swallowing muscles.

“Sufferers lose their mobility and fine motor control, ultimately losing their independence and quality of life,” Professor Needham said.

“Currently sufferers are often diagnosed at an advanced stage when treatment is ineffective, so we will be looking for more accurate, non-invasive ways to diagnose the condition earlier.”

Professor Needham and Dr Coudert are examining a particular combination of human leukocyte antigen (HLA) genes commonly found in IBM sufferers. They believe these HLA genes are associated with antibodies that trigger IBM-like symptoms.

“About one third of patients produce antibodies that recognise an enzyme which is abundant in muscles,” Dr Coudert said.

“Previous studies have shown these antibodies trigger IBM-like symptoms, suggesting that they may contribute to the muscle damage.”

New diagnostic tools

During this investigation, the researchers aim to develop new tools to predict and diagnose the disease in its early stages through characterising this HLA gene combination more completely.

Once the HLA gene is fully understood, the researchers aim to produce a small DNA molecule that blocks the antibody activity to investigate whether these neutralising molecules can alleviate or prevent the disease.

“If successful, this research method could be used against other antibodies associated with IBM and so potentially have application in other antibody-mediated autoimmune disorders such as myasthenia gravis,” Professor Needham said.

The project has been funded by the Spinnaker Health Research Foundation.