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Joining the dots: Mutation-mechanism-disease

Date:
September 1, 2011
Source:
Journal of Clinical Investigation
Summary:
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. Researchers have now identified a mutation that causes Japanese autoinflammatory syndrome with lipodystrophy and determined the mechanisms by which it does so.
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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.

The research appears in the Journal of Clinical Investigation.


Story Source:

The above post is reprinted from materials provided by Journal of Clinical Investigation. Note: Materials may be edited for content and length.


Journal Reference:

  1. Akiko Kitamura, Yoichi Maekawa, Hisanori Uehara, Keisuke Izumi, Izumi Kawachi, Masatoyo Nishizawa, Yasuko Toyoshima, Hitoshi Takahashi, Daron M. Standley, Keiji Tanaka, Jun Hamazaki, Shigeo Murata, Koji Obara, Itaru Toyoshima, Koji Yasutomo. A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. Journal of Clinical Investigation, 2011; DOI: 10.1172/JCI58414

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Journal of Clinical Investigation. "Joining the dots: Mutation-mechanism-disease." ScienceDaily. ScienceDaily, 1 September 2011. <www.sciencedaily.com/releases/2011/09/110901134630.htm>.
Journal of Clinical Investigation. (2011, September 1). Joining the dots: Mutation-mechanism-disease. ScienceDaily. Retrieved August 5, 2015 from www.sciencedaily.com/releases/2011/09/110901134630.htm
Journal of Clinical Investigation. "Joining the dots: Mutation-mechanism-disease." ScienceDaily. www.sciencedaily.com/releases/2011/09/110901134630.htm (accessed August 5, 2015).

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