Joining the dots: Mutation-mechanism-disease
Thursday, September 1, 2011 - 17:31
in Health & Medicine
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.