Identification of Molecular and Genetic Variation Underlying Skin Diseases

    January 2025 in “ Repository of Digital Objects for Teaching Research and Culture (University of Valencia) ”
    Andrea Roso-Mares
    TLDR Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
    This doctoral thesis investigates the molecular and genetic variations underlying rare dermatological disorders, focusing on the role of non-coding RNAs (ncRNAs) and a unique case of glomuvenous malformation (GVM) with polydactyly. The study highlights ncRNAs as potential biomarkers and therapeutic targets in dermatology, despite challenges in specificity and delivery. A novel genetic analysis of a patient with GVM revealed a germline mutation in GLMN and a rare somatic mutation in CCM2L, suggesting CCM2L as a genetic modifier influencing disease severity. Functional studies confirmed that these mutations affect the MAPK/ERK pathway, enhancing proliferation and indicating a functional interaction between GLMN and CCM2L. These findings expand the understanding of GVM pathogenesis and lay the groundwork for future diagnostic and therapeutic advancements.
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