Discovery of a genetic mutation that causes a very serious food allergy

It is the first time such a mutation has been found to cause this form of allergy

Erasmus MC researchers have discovered a genetic mutation responsible for a serious form of food allergy. It is the first time such a mutation has been found to cause this form of allergy.

It is a mutation in the gene that codes for the Stat6 protein. This protein transmits signals into the cell that are involved in the production of substances that play a role in allergies. The genetic mutation was discovered in a family in Thailand whose father and both children suffer from severe allergies. It was discovered in the family that a defect in the Stat6 gene had developed spontaneously, as a result of which the protein became overly active and the patients became hypersensitive to many nutritional components.

The discovery was made by scientist Dr. May Narissara Suratannon – PhD student at Erasmus MC – and its promoter Prof. Martin van Hagen. The research was conducted in close collaboration with Chulalongkorn University in Bangkok. Van Hagen is Head of Allergology-Immunology at Erasmus MC and is also a visiting professor at Chulalongkorn University.

Skin and intestines
The children of the Thai family studied in particular have a very serious food allergy. This mainly causes disturbances on the skin and in the intestines. Exposure to almost any type of food causes inflammation in the intestinal tract.

The researchers suspect that the excessive amount of Stat6 protein in the father caused severe kidney damage. He lost both kidneys to renal fibrosis. “We already knew that an overactive Stat6 gene can cause severe kidney damage in mice, and this has now been suggested for the first time in a patient with overactive Stat6,” say Suratannon and Van. Hagen.

Deviation
Although the mutated gene has only been found in one family, it is likely that other patients with severe allergies may also have such a genetic mutation. “Then there may be a deviation in the same ‘lane’ that the Stat6 gene runs in.”

Now that the genetic mutation has been discovered, the way is open for developing better diagnostics in children with very severe food allergies. “Pediatricians, immunologists and allergists could screen children and adults with very severe food allergies for mutations in the gene line involving the Stat6 gene. Now that we know where it is, it’s a little easier to find it with sequencing (by mapping the DNA),’ van Hagen and Suratannon say. “But this discovery will certainly not solve all cases of allergy.”

Drugs to directly inhibit the production or activity of the mutated Stat6 protein are not yet available. But this can be done indirectly with currently available drugs.

The discoveries of Van Hagen and Suratannon have been published in the scientific journal Journal of Allergy and Clinical Immunology.

What is Food Allergy?
dr. Paul van Daele, internist-allergist/immunologist of the same department at Erasmus MC: ‘With a food allergy, the complaints are caused by a reaction of the immune system to a specific food. The body produces anti-allergic antibodies against certain proteins in food. Food allergies occur all over the world.’

In the Netherlands, food allergies occur in around 2% of adults and around 8% of all children. It is therefore more common in infants and young children than in adults.