Researchers Identify Gene Mutation Responsible For Skin Infection


Researchers from University of Pennsylvania identify gene mutation to develop a lipid-containing lotion to cure ichthyosis.

Skin is composed of densely packed layers of cells and lipids to keep foreign substances out and prevent from dehydration. However, the barrier breaks down in certain skin disorders. One such disorder in which layers of scales build up is called ichthyosis and is caused when the lipid-synthesis process in the skin goes awry.  The disorder that has no effective cure yet causes discomfort and a scaly appearance and even lead to several secondary infections. Now, a research led by pathologist Elizabeth Mauldin of Penn’s School of Veterinary Medicine created a compound to address the lipid deficits seen in the disease. Mauldin began investigating ichthyosis in a bulldog in 2007 and discovered that the puppies had a mutation in the NIPAL4 gene, also called ichthyin. The research was published in the American Journal of Pathology on March 13, 2018.

Moreover, similar mutation of NIPAL4 genes was found in a human case, which in turn made evident that the mutation caused both humans and dogs to lack the NIPAL4 protein gene. According to Mauldin around 17 percent of cases involve a mutation in the ichthyin gene as ichthyin protein plays a role in lipid metabolism. In collaboration with CyberDERM, the team found that the skin condition in the dogs was similar to human patients. The skin barrier in the infected dogs was leaky so it lost water at higher rates than normal. Moreover, the absence of primary component of the CLE, a lipid called omega-hydroxy ceramide restricted the formation of the lipid envelope that acts as the skin’s water barrier. The team discovered that body produced non-esterified free fatty acids to compensate for the defects in lipid production.  However, these non-esterified free fatty acids stripped even more water from the cells on the outer layer of skin. The Korean company Neopharm is aiding the researchers to produce a lipid-containing lotion aimed at restoring the CLE. The lotion hardly showed clinical improvements. However, skin biopsy revealed that it did reform the CLE.


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