Inclusion Body Myositis (IBM) is the most frequently diagnosed disabling late-onset muscle disease in humans, resulting in difficulty in swallowing, progressive loss of ambulation and quality of life. Globally, IBM affects approximately 46 individuals per million, increasing to 139 individuals per million in those over the age of 50. The highest estimated prevalence in Australia is approximately 50.5 per million individuals.

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An IBM diagnosis involves a thorough clinical and muscle pathology assessment. Hallmark features of IBM include inflammation resulting from endomysial lymphocytes surrounding non-necrotic myofibres (with or without invasion), characteristic MHC class I and class II upregulation, autophagic rimmed vacuoles or cytoplasmic protein aggregates consisting of p62 (SQSTM1) and TDP-43 (TARDBP) accumulations, and mitochondrial abnormalities with COX negative and SDH positive myofibres. Currently, no treatments improve muscle strength or alter the disease progression, leaving patients with symptomatic treatment at best.

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Dr Johari is working to better understand IBM and has identified three key aims

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AIM 1: To provide novel insights into the molecular mechanisms of IBM by identifying and characterising the roles of non-coding and cryptic RNAs in uncontrolled inflammatory response, autophagy failure and protein accumulation.

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AIM 2: To visualise and understand the spatial and molecular complexity of IBM pathology, linking RNA and protein data to clinical features and disease progression

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AIM 3: To integrate multiple ‘omics’ datasets generated during his research and through different international collaborations for characterising the molecular landscape of IBM

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We are grateful to clinical colleagues in WA and overseas for their collaboration on this project.

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We also wish to acknowledge the WA Branch of Myositis Australia for their engagement with our research project, and all patients who have contributed samples.