Northwestern Medicine and Tel Aviv University scientists' finding is linked to the team's identification of a new rare genetic disease, called 'severe dermatitis, multiple allergies, and metabolic wasting,' or SAM, caused by mutations in the molecule desmoglein 1.
Kathleen Green, Joseph L. Mayberry, Sr., Professor of Pathology and Toxicology at Northwestern University Feinberg School of Medicine, said that Desmoglein 1 is best understood as the 'glue' that holds the outer layer of human skin together.
She said that 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.
Green asserted that there are a large number of molecules that form this barrier, distributed in a highly-patterned manner, prompting their team to hypothesize that they do more than just mediate adhesion.
Green's group at Northwestern worked with an international team that analyzed clinical data from two families, combined with genetic analysis including next-generation DNA sequencing and light and electron microscopy, among other techniques.
They found that when desmoglein 1 does not properly function or does not exist, the resulting barrier disruption can affect the immune response, and consequences can be severe.
The new study has been published in Nature Genetics.
--ANI (Posted on 27-08-2013)