In K5 and K14 mutant (EBS) keratinocytes we found many genes associated with the cytoskeleton having altered expression levels; in particular cell junction components are down-regulated. That this is due to the expression of the mutant keratins, and not to other genetic variables, is supported by experiments on isogenic cells we generated from wild type keratinocytes transfected with the same K5 and 14 mutations. These findings help explain other aspects of EBS-associated pathology. The weakened cell junctions may be also contributing to the reported increased risk of BCC in EBS patients.
COBISS.SI-ID: 25777881
A novel missense mutation (p.Thr198Ser) in the 1A helix of keratin 5 (K5) has been identified in a four-generation family with a history of the localized variant of epidermolysis bullosa simplex (EBS-loc), a genetic skin fragility disorder caused by K5 or K14 mutations. K5 p.Thr198Ser lies at the C-terminal end of the 1A helical domain and is considered to be outside of the main mutation hotspot region. This is the first reported mutation to affect position 30 of the 1A helix (1A:T30S) in any of the 54 known keratins.
COBISS.SI-ID: 4058138