Medical Research Council - London Institute of Medical Sciences

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Simulating Symptoms
05 July 2012

Simulating Symptoms

Sufferers of von Recklinghausen’s disease – a genetic disorder affecting 1 in 4,000 people – may experience blindness, epilepsy and learning difficulties, as well as increased cancer risk. The disease can cause gross physical disfigurement that leads to its frequent confusion with the ‘Elephant Man’ or Proteus Syndrome. By manipulating genes in a fruit fly, researchers have been able to mimic elements of the disease. When production of certain glycolipid molecules is suppressed, the fly’s peripheral nerves become dramatically overgrown. This also triggers an immune response attracting large numbers of white blood cells to the overgrown nerve (pictured right in cross-section). For comparison a healthy fly nerve is pictured (left); staining highlights different cell types. Generating disease models in flies has great medical potential, since insects have many genes with parallel human versions. These kinds of experiments provide new insight into the mechanisms underlying this disease.

Written by Andrew Purcell

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