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Aberrant mast cell signalling as a cause for anaphylaxis

Project Code: T07039

01/08/2011

Central Science Laboratory
Lawley, W

The aim of this study was to determine if the same genetic alteration found in mastocytosis patients could be identified in blood cells taken from severely allergic individuals who had previously experienced an anaphylactic reaction.

Forty-one volunteers were recruited, representing four clinical groups; 1) healthy normals, 2) subjects with minor allergic conditions such as hayfever and eczema, 3) subjects with a well documented history of anaphylaxis to a specific food type, and 4) individuals with a history of anaphylaxis caused by a non-food source such as wasp stings. The subjects’ suitability for this study was determined by a comprehensive evaluation of allergic status, including a review of medical records and appropriate diagnostic tests.

A blood sample was collected from each subject and white blood cells removed. Genetic material (RNA) was extracted from collected white blood cells. A test was developed to investigate the region of interest within the RNA. RNA from each subject was tested twice, firstly to see if the normal genetic code was present within this region and secondly to detect the alteration seen previously in mastocytosis patients.

Fourteen of the 41 subjects were found to carry this alteration; they were not restricted to one group of volunteers but were spread throughout the four groups. There was a slight trend towards increased occurrence of the mutation in anaphylactic subjects but this was not found to be statistically significant.

It was concluded that the alteration was not found with sufficient frequency in individuals with severe allergies to be a useful marker of the risk of developing allergies. It was, however, unexpected to find this alteration present in normal healthy individuals and this suggests that this genetic alteration may not be limited to those with mastocytosis but may occur more frequently than previously thought in normal individuals.

Final report

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