A recent study led by a group of scientists, published in Nature Genetics, Northwestern Medicine and Tel Aviv University has found that a structural defect in skin cells can surely contribute to allergy development, that include skin and food allergies, that are traditionally thought primarily to be a dysfunction of the working of immune system.

The study is basically related to the team’s identification of a new and very rare genetic disease, called “severe dermatitis, multiple allergies, and metabolic wasting,” or SAM, that is caused by mutations in the molecule desmoglein 1.

“Desmoglein 1 is best understood as the ‘glue’ that holds the outer layer of human skin together,” stated Kathleen Green, Joseph L. Mayberry, Sr., Professor of Pathology and Toxicology at Northwestern University Feinberg School of Medicine.

She further added, “Historically, the molecule was mainly believed to have a structural role: this adhesion between cells contributes to the physical barrier that regulates water loss and also acts as the body’s major defense against environmental elements. But there are a large number of molecules that form this barrier, distributed in a highly-patterned manner, prompting our team to hypothesize that they do more than just mediate adhesion.”

Kathleen Green’s group at Northwestern has worked with an international team that judged clinical data that came from two families, which was combined with genetic analysis consisting of next-generation DNA sequencing and light and electron microscopy, among other techniques. Hence, they found that when desmoglein 1 does not function properly or does not exist at all, the resulting barrier disruption can probably affect the immune response, and results can be serious.

“This work is also significant because it suggests that in addition to impairing the physical barrier, loss of desmoglein 1 may more directly regulate expression of genes that control the immune response and contribute to allergy,” states Green. “Conceptually, it allows us to build on previous studies and make conclusions about the importance of other structural proteins in the skin barrier.”

Green quoted that the finding, combined with recent published data, could surely lead investigators to umcover more connections between defects in structural molecules and less severe allergies such as atopic dermatitis, eczema and very common food allergies.

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