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Unraveling the mystery of clinical variations in “Skellefteå-sjukan”
In our group we work with systemic amyloidoses. This is a class of amyloid diseases where the proteins involved are deposited in large amounts throughout the body causing destruction of different organs, which eventually leads to death. I work with an inherited form that is caused by a mutation in the gene coding for transthyretin (TTR), a transporter protein circulating in the blood. The main feature of the disease is a slow degeneration of peripheral nerves, leading to severe disturbances of the sensory motor and autonomic systems, but inner organs are also commonly affected. Death occurs after 10-15 years. The specific clinical manifestations differ considerably between patients with different mutations but interestingly also between patients having the same mutation. The disease onset varies greatly as well; from 20 years of age up to any age. Our group is trying to figure out the reason behind such large differences in phenotype between patients.
Methods used are:
Common protein techniques like gel electrophoresis, western blotting,
mass spectrometry, protein purification methods and immunohistochemistry .
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