Transcriptome Analysis of Monocytes and Fibroblasts Provides Insights Into the Molecular Features of Periodontal Ehlers-Danlos Syndrome.

ABSTRACT: Periodontal Ehlers-Danlos syndrome (pEDS) is a rare hereditary disorder characterized by severe early-onset periodontitis with premature tooth loss, pretibial hyperpigmentation, and skin fragility. It is caused by mutant variants in the C1R and C1S genes that result in C4 cleavage and local complement cascade activation, as well as other possible consequences. However, the exact functional consequences of this activation remain unclear. To shed light on molecular mechanisms underlying pEDS and to identify novel molecular targets that may expand treatment strategies, we performed transcriptome profiling by RNA sequencing of monocytes and gingival fibroblasts from two patients with pEDS. Compared to normal controls, differential expression of genes was found only in monocytes b

SUBMITTER: Liao Z 

PROVIDER: S-EPMC9095904 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature