Scientists confirm genetic variations cause eczema, allows for polishing of genetic tests, therapies

August 26, 2020

Atopic dermatitis, commonly known as eczema, is an inflammatory skin condition caused by an impaired skin barrier. It allows increased water loss from the skin – people with eczema tend to have thick, dry,and intensely itchy skin and easily develop skin infections and allergies. Scientists backed by the National Institutes of Health (NIH) have recently shown how two relatively common variations in a gene called KIF3A are responsible for this condition.

In the new study, the scientists found that skin and nasal-lining cells from people with the KIF3A single nucleotide polymorphism (SNP) variants had more changed parts of the gene and contained fewer blueprints for the KIF3A protein, compared to cells in which KIF3A lacked the SNPs. People with the SNP-created regulating sites also had higher levels of water loss from the skin.

The scientists studied mice lacking the mouse version of KIF3A in skin cells to determine whether lower levels of KIF3A caused atopic dermatitis. They found that these mice had increased water loss from the skin due to a dysfunctional skin barrier and were similarly likely to develop features of atopic dermatitis.

The scientists believe that the presence of either or both of the two SNPs in human KIF3A indeed leads to lower production of the KIF3A protein and promotes dysfunction of the barrier that normally keeps skin well hydrated. It increases the likelihood that a person will develop atopic dermatitis.

The findings can guide therapies directed specifically at water loss from the skin, such as intensive topical hydration regimens, to prevent atopic dermatitis in children with SNPs and acascade of additional allergic diseases later in life, or the “atopic march.”

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Category: Education, Features

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