Unlocking the potential: m6A-RNA methylation in severe epidermolysis bullosa simplex.

ABSTRACT: Epidermolysis bullosa simplex (EBS) is a rare genetic disorder, resulting from mutations in keratin 5 and keratin 14 (KRT14), and is characterised by skin fragility, herpetiform blistering, and the development of confluent palmoplantar keratoderma and nail dystrophy. Inflammation, pain and itch are the most common complications of severe EBS. However, pathophysiological mechanisms remain poorly characterised at a molecular level. Recently, RNA N6-methyladenosine (m6A) nucleotide modification has been implicated in several cutaneous physiological processes, including epidermal differentiation, inflammation, adaptive immune responses, host-pathogen interactions, wound healing and tissue repair. Nevertheless, the role of m6A in EBS has yet to be defined. In this pilot study, we investigated t

SUBMITTER: Balacco DL 

PROVIDER: S-EPMC12411834 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature