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IV gentamicin shows promise for genetic blistering skin disorder


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Journal
JAMA Dermatology
Reuters Health - 07/03/2022 - A course of intravenous (IV) gentamicin led to wound improvement with no detectable toxicities in five patients with junctional epidermolysis bullosa (JEB) in an open-label nonrandomized, pilot trial. JEB is an incurable blistering skin disorder with high infant mortality, often caused by nonsense variants in the genes that encode laminin 332, which holds the epidermis and dermis together, Dr. Mei Chen and Dr. David Woodley of the Keck School of Medicine at the University of Southern California, Los Angeles explained in an email to Reuters Health. The nonsense mutations "cause the cellular machinery to prematurely stop translating the gene into the protein. This creates either no laminin 332 or a smaller truncated version of laminin 332 that is not functional," leading to blisters and open wounds, they said. "An old class of antibiotics called aminoglycosides...have the property of 'reading through' nonsense mutations and allowing the g...


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