Formation of gelsolin amyloid fibrils in the rough endoplasmic reticulum of skeletal muscle in the gelsolin mouse model of inclusion body myositis: comparative analysis to human sporadic inclusion body myositis.

[inclusion body myositis]

Sporadic inclusion body myositis has a significant impact on the life of the elderly . Despite some similarities to other myopathies with established genetic defects , little is known about mechanisms of its development and no effective treatment is available . Therefore , there is a need for animal models that can faithfully reconstitute important aspects of this human disease . The authors recently expressed a mutant form of human gelsolin in mice under the control of a muscle -specific promoter . This induced myopathic changes reminiscent of human inclusion body myositis . In this study , immunogold labeling is used to further characterize this model . The study demonstrates a presence of gelsolin amyloid deposits within the rough endoplasmic reticulum . It further compares this mouse model to human sporadic inclusion body myositis .

Diseases
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Diseases presenting "little is known about mechanisms of its development and no effective treatment is available" symptom

inclusion body myositis

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