Nicastrin/miR-30a-3p/RAB31 axis regulates keratinocyte differentiation by impairing EGFR signaling in familial acne inversa

Nicastrin (NCSTN) mutations are associated with familial acne inversa (AI), and emerging evidences suggest that microRNAs (miRNAs) are involved in various skin diseases. However, whether NCSTN mutations affect miRNA levels and their subsequent signaling pathways in familial AI patients has not been studied. We aimed to elucidate the relationship between NCSTN mutations and familial AI pathogenesis by investigating differential miRNA expression and their related pathways. Combined with miRNA microarray data from familial AI patients, Ncstn keratinocyte-specific-knockout (Ncstn ΔKC) mice and bioinformatics predictions demonstrated that NCSTN mutations led to decreased miR-30a-3p levels, which negatively regulated RAB31 expression.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Original Article Source Type: research
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