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Demonstration of Genetic Variation as a Cause for Eczema

Anirudh Venkatesh

August 19, 2020          

 

Abstract:


          Research regarding two relatively common variations of the gene KIF3A is believed to
be responsible for an impaired skin barrier that enables a larger water loss from the skin, which
then helps to promote atopic dermatitis, which is more commonly known as eczema.


Research:


          Atopic Dermatitis is a huge issue seen very predominantly in developing countries. It is
believed to affect nearly 20% of children in those countries, making it a huge public health
problem. It’s symptoms include dry, thickened skin, which prompts itchiness and skin folds. It
makes the skin more susceptible to bacterial, viral and fungal skin infections.
KIF3A is a specific gene that codes for a protein whose role is to generate signals from
the outside of a cell into the inside. This gene and its variations were seen in correlation with
asthma in children, but has now been recently related with eczema as well.
          In the study, researchers found a single nucleotide polymorphism(SNP), associated with
this gene, and modified the sequence through a process known as methylation. Researchers
confirmed that people with this KIF3A SNP had nasal and skin lining and had more methylation,
relating to the creation of eczema. Through this method, it was determined that people who had
this mutation have more water loss from their skin, directly related to the elevated methylation.
To confirm their findings, researchers studied the SNP of the KIF3A gene in mice as well
to determine the effects in other mammalian species. As expected, a greater loss of water was
seen in mice as well who possessed this mutation.


Conclusion:


          Now that researchers have found this important indicator of the formation of eczema,
they are able to run screenings to not only try to limit its effects, but be able to present a much
better treatment early on in it’s diagnosis. Additionally, water retaining treatments can be
presented to individuals with this mutation, rather than treatments which target dryness in other
methods which are not as effective in this case.

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