Natural gene therapy may occur in all patients with generalized non-Herlitz junctional epidermolysis bullosa with COL17A1 mutations.

[junctional epidermolysis bullosa]

Mutations in the type XVII collagen gene (COL 17 A 1 ) result in the blistering disorder non-Herlitz junctional epidermolysis bullosa (JEB -nH ). The incidence of revertant mosaicism , also called "natural gene therapy ", was identified in a cohort of 14 patients with JEB -nH caused by COL 17 A 1 mutations in the Netherlands . Five different in vivo reversions , all correcting the germ-line COL 17 A 1 mutation c .2237 delG in exon 30 , were found in four mosaic JEB -nH patients . The correcting DNA changes involved a wide variety of somatic mutations , from which an indel mutation (c .2228 -101 _2263 +70 delins 15 ) and a large deletion of 2 ,165 base pairs (c .2227 +153 _2336 -318 del ) have not been previously observed in patients with revertant mosaicism . Our results show that there is no preference for a repair mechanism . Moreover , revertant mosaicism was confirmed on a DNA level in 6 out of 10 generalized JEB -nH patients . Further , photo-material and clinical history of the other four generalized JEB -nH patients demonstrated that each patient has revertant skin patches . In contrast , revertant mosaicism was not detected in the four localized JEB -nH patients . The fact that so many , if not all , generalized JEB -nH COL 17 A 1 patients have revertant patches offers opportunities for cell therapies in which the patient 's own naturally corrected cells are used as a source .

Diseases
Validation

Diseases presenting "wide variety" symptom

alexander disease

allergic bronchopulmonary aspergillosis

cadasil

erythropoietic protoporphyria

esophageal carcinoma

familial hypocalciuric hypercalcemia

gm1 gangliosidosis

junctional epidermolysis bullosa

lamellar ichthyosis

lymphangioleiomyomatosis

oral submucous fibrosis

pleomorphic liposarcoma

proteus syndrome

severe combined immunodeficiency

x-linked adrenoleukodystrophy

zellweger syndrome

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