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The antibiotic gentamicin shows therapeutic potential in laboratory experiments with Herlitz-JEB cells

New scientific publication with EB House participation

Scientists from the US, with support of colleagues from Italy and the EB House Austria, investigated the effect of the antibiotic gentamicin on skin cells from patients with the Herlitz type of junctional EB (H-JEB). The results were recently published in the journal PNAS.

H-JEB is a particularly severe form of JEB caused by laminin mutations, of which about 95 % are STOP mutations that lead to a premature termination in the production of the laminin protein. Therefore, no functional protein is produced.

The results of a previous study in a small group of recessive dystrophic EB patients have shown that locally applied gentamicin causes the skin cell to overlook the STOP mutation (Woodley et al, 2017). Thus, the previously missing protein can be produced and consequently improve the cohesion of the skin layers.

Therefore, the scientists have investigated whether this form of therapy could also be successful in H-JEB cells. For this purpose, isolated H-JEB skin cells, all of which had a different STOP mutation, were treated with gentamicin. As a result, laminin protein was produced and could be detected in the cells for up to 6 weeks after treatment, although the amount varied depending on the type of the existing STOP mutation.

In order to prove that the effect was specifically due to gentamicin, the cells were treated with four other substances that can also attenuate STOP mutations. None of the substances achieved a similar effect on the laminin production. In further experiments, the cells bearing the mutations were grown into artificial skin in the laboratory. Laminin was detected between the upper and lower layer of these skin equivalents only after gentamicin treatment, similar to healthy skin.

These results appear promising and show the potential of gentamicin for local treatment of H-JEB patients' skin with particular STOP mutations. However, H-JEB symptoms are not limited to the skin but also affect internal organs. In order to achieve permanent relief of the symptoms by means of gentamicin, patients would require lifelong treatment with oral drugs or infusions. However, special care will have to be taken because gentamicin may cause serious side effects such as irreversible hearing loss and kidney failure if used over a long period of time.

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