Loading...
A spontaneous reversion to the normal phenotype in a patient with genetic disease is a paradigm shift. Examples in patients with severe genetically induced skin disease offer an opportunity to examine the mechanism of reversion and what it may presage for gene therapy. Researchers in the Netherlands assiduously investigated examples of reversion in patients with severe and debilitating forms of epidermolysis bullosa (EB).
Patients from two separate families with non-Herlitz junctional EB had mutations in the LAMB3 gene, leading to deficient β-3 laminin expression in the basement membrane. After years of erosive disease, regions of skin that were previously blistered returned to normal — not just improved, but normal-appearing, nonblistering …