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Published on: October 14, 2013
Remote Skin and Blood Sampling for Translational Connective Tissue Disorder Research: A Proof-of-Concept Pilot Study
Dany Alkurdi1,2, Saeed Shakiba1, Isabel Okinedo1
1Department of Dermatology, UMass Chan Medical School, Worcester, Massachusetts, USA.
Abstract:
Remote, noninvasive biospecimen collection methods can address geographic and mobility-related barriers to participation in translational research for connective tissue disorders. We evaluated the feasibility of combining noninvasive skin tape stripping and Tasso capillary blood collection to molecularly profile lupus and morphea in remote settings using mailed kits. RNA extraction was optimized from 20 serial tape strips per site, with overnight shipping and scraping samples in buffer without sonication, yielding the highest concentration and quality. We enrolled 8 patients with lupus, 3 patients with morphea, and 8 healthy controls. Microarray analysis identified upregulation of CXCL9, CCR6, and PDGFRA in lupus and morphea skin. Proteomic analysis revealed elevated IFN-γ, TNFRSF4, and ANGPT2 in lupus serum, with lower IL-13 than in controls. Morphea samples showed increased expression of markers, including PDGFRA, P2RX1, and KALRN. Distinct gene expression signatures of CTGF, TNFRSF4, and MAFB in lupus skin and ALOX15, KALRN, and P2RX1 in morphea skin enabled differentiation between morphea and lupus. CXCL9 and IFN-γ biomarkers were confirmed in other publicly available datasets at both the protein and RNA levels. These findings provide proof of concept that remote RNA and protein profiling is feasible and reproducibly identifies canonical and, to our knowledge, previously unreported disease markers; however, the small number of patients and the lack of more complete characterization of the participants studied require that further studies are needed to establish the role of these findings in the pathogenesis of lupus and morphea. This approach enables broader inclusion of underserved patients and offers a scalable model for remote biomarker studies in dermatologic and autoimmune research.

