Public Release:  Joining the dots: mutation-mechanism-disease

Journal of Clinical Investigation

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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TITLE: A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans

AUTHOR CONTACT:

Koji Yasutomo
University of Tokushima Graduate School, Tokushima, Japan.
Phone: 81.88.633.7048; Fax: 81.88.633.7114; E-mail: yasutomo@basic.med.tokushima-u.ac.jp.

View this article at: http://www.jci.org/articles/view/58414?key=e68484f2b2319cbd8a87

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