Skin Cell Defect May Trigger Food and Skin Allergies

First Posted: Aug 26, 2013 11:52 AM EDT

Are you allergic to certain types of food? You may have a certain structural defect in your skin cells. Scientists have discovered that this defect can contribute to allergy development, including both skin and food allergies, that was typically thought to be a dysfunction of the immune system.

The scientists were actually looking at a new rare genetic disease, called "severe dermatitis, multiple allergies and metabolic wasting" (SAM). This disease is caused by mutation in the molecule desmoglein 1. Yet as they examined the disease, they found a little bit more about allergy development.

"Desmoglein 1 is best understood as the 'glue' that holds the outer layer of human skin together," said Kathleen Green, one of the researchers, in a news release. "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."

In order to analyze desmoglein 1 a bit more closely, the scientists analyzed clinical data from two families. They then combined this data with genetic analysis including next-generation DNA sequencing and light and electron microscopy, among other techniques. In the end, they found that when desmoglein 1 does not properly function or does not exist, the resulting barrier disruption can affect the immune response.

"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," Green said.

The findings might help researchers better understand allergies. This, in turn, could allow them to develop better treatments for those that suffer from allergies.

The findings are published in the journal Nature Genetics.

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