professor matt brown - arthritis presentation€¦ · osteogenesis imperfecta – generally rare...
TRANSCRIPT
Arthritis What is it and what causes it?
Matt Brown Professor and Director of Genomics
Queensland University of Technology [email protected]
What is Arthritis?
• Any disease of joints • Divided into:
– Immune-mediated arthritis eg rheumatoid arthritis, psoriatic arthritis, lupus, ankylosing spondylitis
– Metabolic arthritis eg. Gout – ‘Wear and tear’ arthritis e.g. osteoarthritis – Infectious arthritis e.g Ross River Fever, septic arthritis And over 100 other forms of arthritis
How Common Is Arthritis?
• Affects 3.5 million Australians – By 2050 will affect 7 million Australians
• Is the major cause of both disability and chronic pain in Australia
• Costs Australia $23.9 billion in medical costs and lost income
Bates, et al. Arthritis and disability: Social Policy Research Centre, UNSW, Australia, 2014
What Makes You at Risk for Arthritis?
• Genes – Either single genes or multiple genes operating in
combination
• Environment – Diet – Smoking – Occupation – Infections – …
Human Genetic Diseases
• Single gene ‘monogenic’ diseases – e.g. cystic fibrosis,
haemochromatosis, osteogenesis imperfecta
– Generally rare – Each family usually has a
different mutation, usually in the same gene
– Evident inheritance from generation to generation
Monogenic forms of arthritis
• Very rare (<0.5% of population) • Includes
– Some types of • Metabolic arthritis
– Gout – Chondrocalcinosis
• Disorders of joint and cartilage formation • Blood disorders
– Haemophilia – Sickle cell disease
Common ‘polygenic’ diseases •e.g. osteoarthritis, rheumatoid arthritis, psoriatic arthritis, ankylosing spondylitis
•Different individuals have different genetic variants in different, but overlapping, sets of genes
•Condition ‘runs in the family’ but transmission from generation to generation not so obvious
The Environment and Arthritis • Smoking
– Increases risk of RA, AS – May reduce risk of OA
• Alcohol – Increases risk of gout, OA
• Weight – Increases risk of OA and psoriatic arthritis
• Occupation – Farmers at higher risk of hip and knee OA
Do Gut Bacteria Cause Arthritis?
• Compared gut bacteria in cases with ankylosing spondylitis with healthy controls
• Cases have different gut bacteria to health controls
• Consistent with either disease affecting the bacteria, or the bacteria causing the disease.
Costello et al., Arthritis Rheumatol, 2015
Rehaume LM et al. Arthritis Rheumatol. 2014 Oct;66(10):2780-92.
Summary
• Mostly the cause of arthritis is in your genes. • Environmental factors are also important, so
you can do things to help prevent arthritis. • Most inflammatory arthritis is thought
ultimately to be caused by infections triggering the immune system to attack joints – ?Can we use this to prevent or treat arthritis?