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Spanish researchers have managed to improve the condition of a patient with a variant of epidermolysis bullosa (also known as butterfly skin disease), further characterized by muscular dystrophy. The results are published in JAMA Dermatology.
Thanks to the administration gentamicinan antibiotic, plectin protein (absent in this patient) has been detected on her skin, and her quality of life has improved with decreased pain and slight improvement in respiratory and skeletal muscle weakness observed.
This compound has shown the ability to modulate the consequences of the inherited genetic defect that causes the disease.
Simple epidermolysis bullosa with muscular dystrophy (EBS-MD) is a rare disorder caused by mutations in the plectin gene.
Patients, in addition to presenting skin fragility, develop progressive skeletal and respiratory muscle weakness that drastically reduces their quality of life and increases morbidity and mortality.
This disease, incurable and for which there are no specific and effective treatments, is caused by a mutation.
María José Escámez, a researcher at the Research Chair of the Carlos III University of Madrid (UC3M), has coordinated a group made up of basic and clinical researchers who have made possible the treatment of this patient with an urgent need to improve her condition.
The work reports, first, the efficacy of gentamicin in achieving a significant production of plectin in the patient’s skin cells.
Second, that with the Intravenous treatment of the patient with gentamicin increased plectin levels in her foot.ly a slight improvement in respiratory and skeletal muscle weakness.
“All of this, as a whole, had a positive impact on the patient’s quality of life,” says Marcela del Río, from the Jiménez Díaz Foundation and head of the CIBERER group.
“This study reveals the potential value of gentamicin as a therapy for EBS-MD, which could be extended to other hereditary plectinopathies caused by nonsense mutations”, adds Escámez, also a researcher at the IIS-FJD and the CIBERER.
To carry out this study, the work of the Reference Center for Epidermolysis Bullosa led by Raúl de Lucas at the La Paz University Hospital, the support of the DEBRA-Spain patient association and the collaboration of the patient and her family have been essential. .
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