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6, e1616

Incidence of JEB in England and Wales (8.9 per million live births) was similar to those from the Netherlands and the U.S., but a study from Germany reported a higher incidence of JEB (14.23 per million live births).[130,131] JEB results in considerable mortality, with approximately 50% of cases dying within the first year of life.[152] Pathogenic variants in COL17A1 or in any of the genes encoding laminin 332 and its three subunits, previously known as laminin 5 ( LAMA3 , LAMB3 , LAMC2 ) can result in JEB.[153-155] Individuals with a severe form of JEB, called the Herlitz type, have an 18% cumulative risk of developing SCC by age 25 years.[156] A study of COL17A1 in individuals with a milder subtype of JEB, called JEB-other, identified 85 pathogenic variants in 86 alleles from 43 individuals.[157] In this study, total loss of COL17A1 protein staining was associated with a severe JEB phenotype

However, it is currently unknown if lipophilic persulfides are produced inside mammalian cells

The study, published online Feb

Overall, the relationship between Se status and GPx activity has been inconsistent, with some studies concluding that Se supplementation has no effect on GPx activity in healthy individuals [162,163,164] or in those with mucopolysaccharidosis [165], while others found beneficial effects [166,167,168]

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