Gene mutations lead to cause Atopic Dermatitis skin disorder



Atopic dermatitis, also known as eczema, affect millions of people in the United States. There is no cure for the condition, and its causes are not fully understood.

Eczema is a chronic, non-contagious inflammatory skin disorder. People who have eczema may also suffer other viral or bacterial skin conditions. People with eczema do not have the proteins that normally protect healthy skin against infections.

According to National Institute of Allergy and Infectious Diseases (NIAID), 30% of U.S. individuals are affected by eczema. The condition strikes children and teenagers in particular.

The condition occurs in conjunction with other allergies such as asthma, hay fever, and food allergies.

Together with other scientists, researchers from the NIAID set out to analyze the genetic sequences in people with severe eczema. Researchers found a single-gene cause for common allergic diseases.

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CARD11 mutations

Researchers said, the gene encodes the instructions for producing the CARD11 protein. CARD11 mutations can lead to cause eczema.

To understand the mechanism of CARD11 mutations lead to atopic dermatitis, the researchers conducted a series of experiments and studied cell cultures to examine the effect of the mutations on the CARD11 protein.

The researchers found a different mutation that affected a separate area of the CARD11 protein. However, all of the mutations affected T cell signaling in a similar way.

Specifically, the researchers detect two cell-signaling pathways that are disrupted by the mutations. These signaling pathways are no longer activated properly as a result of the mutations.

One of the signalling pathways is activated by glutamine, an amino acid that is a building block of protein. The key roles of glutamine is immunity, brain function, and digestion.

The researchers were able to boost glutamine levels and thus cell-signaling defects caused by the genetic mutations that underpin eczema.

Now researchers planning a study to assess the effect of supplemental glutamine and leucine, another amino acid that activates the same cell-signaling pathways as glutamine supplements, in people with atopic dermatitis with and without CARD11 mutations.

More information: [nature genetics]