Nat Commun: Genetic mutations lead to eczema.

August 17, 2020 /--- A recent new study by the National Institutes of Health reveals how two relatively common variants of the KIF3A gene cause skin damage, leading to increased skin moisture loss and promoting eczema.
eczema is an inflammatory skin disease that affects up to 20 per cent of children in developed countries.
chronic disease is characterized by dry skin, thickening and intense itching.
eczema are more susceptible to bacterial, viral and fungal skin infections and often develop other allergic diseases, such as asthma.
(Photo: www.pixabay.com) KIF3A-coded proteins are involved in generating signals from the outside of the cell to the inside.
, scientists have identified a link between two genetic variants of KIF3A and asthma in children with eczema.
the new study, researchers found that these mutations, or single nucleotide polymorphisms (SNPs), alter the rate at which the KIF3A gene methylation regulates gene transcription.
researchers confirmed that people with KIF3A SNP variants had higher levels of methylation of skin and nasal cells, fewer transcripts of KIF3A proteins, and higher levels of skin moisture loss.
to determine whether low levels of KIF3A cause eczema, the scientists studied mouse models of skin cells that lacked KIF3A.
found that the mice increased skin moisture loss due to dysfunctional skin barriers and were more likely to develop eczema traits.
researchers concluded that mutations associated with the human KIF3A gene can lead to lower levels of synthesis of the KIF3A protein, which promotes barrier dysfunction that normally keeps the skin hydrated, increasing the likelihood of eczema.
based on this result, the researchers suggest that babies could be genetically screened to assess the risk of skin moisture loss, leading to timely treatments, such as strengthening local moisturizing therapy, to reduce the risk of eczema in children.
(bioon.com) Source: Scientists show how genetic variations cause eczema Original source: Stevens, M.L., Zhang, Z., Johansson, E. et al. Disease-associated KIF3A variants alter gene methylation and expression impacting skin barrier and atopic dermatitis risk. Nat Commun 11, 4092 (2020).