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Joining the dots: mutation-mechanism-disease

September 1st, 2011

Individuals with an autoinflammatory syndrome experience episodes of prolonged fever and inflammation in the absence of infection. There are several different autoinflammatory syndromes identified by distinct symptoms and underlying genetic mutations. A team of researchers, led by Koji Yasutomo, at the University of Tokushima Graduate School, Japan, has now determined that a mutation of the PSMB8 gene causes Japanese autoinflammatory syndrome with lipodystrophy (JASL), a recently identified condition. The team performed a detailed analysis of how the PSMB8 mutation causes disease, providing new insight into potential therapeutic targets for this rare condition.

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Provided by Journal of Clinical Investigation

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