KIF3A gene variations key in developing eczema:StudyAugust 17, 2020 0 By FM
Variations in kinesin-like protein KIF3A gene could increase the risk for atopic dermatitis, found a recent study published in the Nature Communications. The research supported by the National Institutes of Health suggested that the findings could lead to genetic tests that identify infants at risk for the disease.
Atopic dermatitis (eczema) is an inflammatory skin condition characterised by dry, thickened and intensely itchy skin, particularly in skin folds. People with eczema are more susceptible to bacterial, viral and fungal skin infections and frequently develop additional allergic diseases such as asthma.
KIF3A is a gene that codes for a protein involved in generating signals from the outside to the inside of a cell, part of a complex sensory apparatus. The team found that two relatively common variations or single nucleotide polymorphisms (SNPs), changed parts of the KIF3A gene to a form that can regulate, through a process called methylation, the rate at which a gene is transcribed into the blueprint for protein production.
KIF3A SNP variants caused the formation of an impaired skin barrier that allowed for increased water loss from the skin promoting the development of eczema.
The investigators confirmed that skin and nasal-lining cells from people with the KIF3A SNP variants had more methylation and contained fewer blueprints for the KIF3A protein than cells in which KIF3A lacked the SNPs. In addition, the researchers demonstrated that people with the SNP-created regulating sites had higher levels of water loss from the skin.
To determine whether lower levels of KIF3A caused atopic dermatitis, the scientists studied mice lacking the mouse version of KIF3A in skin cells. They found that the mice had increased water loss from the skin due to a dysfunctional skin barrier and were more likely to develop features of atopic dermatitis.
The investigators concluded that the presence of either or both of the two SNPs in human KIF3A leads to lower production of the KIF3A protein, promoting dysfunction of the barrier that normally keeps the skin well hydrated, thereby increasing the likelihood that a person will develop atopic dermatitis.
This finding could lead to genetic tests that empower parents and physicians to take steps to potentially protect vulnerable infants from developing atopic dermatitis and additional allergic diseases, suggest the researchers.