Asthma in children: new insights into the role of genes

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Written By Kampretz Bianca

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Asthma in children is not uncommon. Around one in three children suffers from an early form of respiratory disease in the first few years of life. Researchers have known for some time that about 80% of these children have a genetic defect on chromosome 17. However, it was still unclear why exactly this defect increases the risk of developing asthma.

A team of researchers, in which Munich scientists played a key role, has now discovered this. Constanze Jakwerth, first author of the study and an expert in molecular medicine at the Helmholtz Center Munich, Carsten Schmidt-Weber, head of the study and director of the Institute for Allergy Research at the Helmholtz Center Munich, and Nicole Maison, an expert in pediatric and adolescent medicine in Dr. from the Haunerschen Children’s Hospital in Munich, how they achieved this – according to Schmidt-Weber, a “milestone”. There is also mention of a “milestone in childhood asthma research”. Press release on the research work (external link) on the Helmholtz Center Munich homepage.

Asthma in children: researchers examined 261 children with a genetic defect

As previous studies already suspected a link between genetic defects and viral infections in the development of childhood asthma, the scientists led by Jakwerth and Schmidt-Weber decided for themselves study now published (external link) examined the nasal mucosa tissue of 261 children with a genetic defect. 78 of them were healthy, 79 suffered from wheezing at preschool age and 104 were asthmatic, according to the work.

“Faulty immune system” in children leads to increased risk of asthma

To be able to accurately analyze the genetic makeup of the children, the researchers removed some cells from their nasal cavities with small brushes. This allowed them to research the mechanism in the cells of children with the specific genetic defect with little effort and because it was not very invasive. They discovered that the children’s genetic defect causes increased expression of the protein Gasdermin B (GSDMB). This increased production of the protein means, among other things, that children are more susceptible to viral infections. This also increases your risk of developing asthma.

Constanze Jakwerth from Helmholtz Zentrum München speaks of a “defense defect” in children due to increased expression of the GSDMB protein. “These children lack very specific defense molecules in the local respiratory tract and are therefore less able to defend themselves against viral infections than healthy children”, explains the researcher.

Viral infections are not always positive for the child’s immune system

What’s special about the study isn’t just that the research team discovered why the genetic defect leads to an increased risk of asthma. The work also shows that – contrary to assumptions from previous research – it is not positive to overwhelm a child’s immune system with numerous viral infections. On the contrary. Under certain conditions, viral infections can increase your risk of asthma. Particularly when the immune system is weakened by the genetic defect described above, as was the case with 12-year-old Anton.

Doctors led by Nicole Maison at Haunerschen Children’s Hospital have been caring for him since he was ten months old. Bronchitis and lung infections repeatedly sent the boy to the hospital. “[…] “We have been following him for a few years, but now he has unfortunately developed asthma and severe shortness of breath can occur even without infections,” says the pediatrician. A fate that affects many children with the genetic defect.

Asthma in children: study provides basis for new medicines

The study, carried out by researchers at the Technical University of Munich, the Center for Allergy and the Environment (ZAUM) and the Helmholtz Center Munich in collaboration with the German Center for Lung Research, provides the basis for new treatment options for asthma in children . The researchers’ goal is to develop drugs that better control or even completely prevent infections in children with a specific genetic defect.

Based on the new discoveries, the researchers hope to find “more specific targets for a therapeutic agent”, as Constanze Jakwerth states in an interview with BR. A more specific medication than cortisone, a medication with which children with asthma are currently routinely and permanently treated, but which, as a broad immunosuppressant, has many side effects.

It may take several years for a new, more specific medication for children with asthma to reach the market. What is certain from the study is that the development and function of the child’s immune system must be reconsidered, as said by Erika von Mutius, long-time head of the Dr. Department of Asthma and Allergy at Haunerschen Children’s Hospital. She has been researching the topic for a long time and also worked on the study that has now been published.

Asthma in children: Individuals under six years of age sought for studies

To continue researching asthma in children, the Helmholtz Center in Munich, among others, is looking for children to participate in the so-called ALLIANCE Study (external link).

We are looking for children aged between six months and less than six years who have had whistling or wheezing noises two or more times in the last 12 months. Parents or legal guardians can find out about the requirements for participation at

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