Genetic Mutations Open Doors to Atopic Dermatitis


Eczema’s underlying cause may be as simple as a single gene mutation. Recent research in Nature Genetics has found that the gene CARD11 could be singularly responsible for atopic dermatitis.

The CARD11 gene is integral in lymphocyte receptor signaling and encodes instructions for the production of the CARD11 protein. The study showed that supplementation of glutamine, an amino acid, can partially correct the damage of CARD11 mutations.

The Study

Researchers studied the genetic sequences of eight people from four unrelated families with CARD11 mutations. Cell cultures were then studied as part of several experiments in order to examine the mutations’ effect on the CARD11 protein and how the process may lead to atopic dermatitis.

Some of the individuals studied had existing health issues, such as infections. Since the entire group did not show the same symptoms, scientists believe that the CARD11 mutations that may cause atopic dermatitis do not lead to other immune system syndromes.

The team found that T cell signaling was affected similarly in the subjects, despite the mutation affecting the protein in various areas. Two-cell signaling pathways were disrupted because of the mutations but were partially corrected after the team supplemented glutamine levels—activating mTORC1, an important part of signaling pathways.

Future research will concentrate on the effects of glutamine and leucine (an amino acid which activates mTORC1) supplements on atopic dermatitis patients with and without the CARD11 mutation.

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