Researchers Discover Topical Therapy for a Rare Genetic Skin Disease

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In what may seem to pave way for effective treatment and management of a family of rare genetic skin diseases, researchers have recently hit upon a topical therapy based on cellular and metabolic processes. A team of researchers led by a pathologist at Elizabeth Mauldin of Penn’s School of Veterinary Medicine used pathogenesis-based approach to find a potential therapy for treating conditions manifested by ichthyosis, a severe skin barrier condition. The team of researchers in collaboration with a Korea-based multinational pharmaceutical company Neopharm Ltd. and cyberDERM conducted mutation studies on a litter of dogs infected with ichthyosis the condition of which are similar in humans.

Lotion could counter key Gene Mutation causing Skin Barrier Condition in Dogs and Humans

The investigators found that using a topical lotion they created they could reinstate and recreate the structure of corneocyte lipid envelope (CLE), the components of which are absent in diseases canines. The researchers confirmed that though the lotion didn’t show any noticeable clinical improvement in the condition, it was effective in correcting a key gene mutation prominent in most variants of ichthyosis. Further research were needed to exploit the clinical potential of the therapy.

The findings of the study was published in a monthly peer-reviewed medical journal the American Journal of Pathology.

Further Research based on Pathogenesis-Based Approaches required to bring Clinical Improvements in Diseased Canines

The researchers conducted tests on affected canines and found that they lacked the NIPAL4 protein caused by a mutation in the ichthyic gene or NIPAL4 gene. The gene plays a crucial role in in lipid metabolism in dogs as well as humans. They found that the gene is responsible for disrupting the barrier condition of the skin rendering the surface to leak out water more than what is normal, causing the skin condition. The diseased canine also lacked a lipid called omega-hydroxy ceramide. The lipid-containing lotion topical lotion they developed could make up for the deficiency in the protein by recreating the CLE. They could confirm the result by analyzing skin biopsy using high-powered microscopy.

The next line of therapy will focus on hindering the accumulation of non-esterified free fatty acids that are responsible for stripping the cell membrane and dehydrating the skin in human and canine patients.

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