Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients.

Autor: Ho M; Department of Dermatology and Program in Translational Biomedicine, Yale University, New Haven, CT, USA., Nguyen HN; Microbial Genomics DNA Medical Technology, Ho Chi Minh, Vietnam.; Department of Biology, Dalat University, Da Lat, Lam Dong, Vietnam., Van Hoang M; Vietnam Vascular Anomalies Center, University Medical Center 3, Ho Chi Minh, Vietnam., Bui TTT; Hung Vuong Maternal's Hospital, Ho Chi Minh, Vietnam., Vu BQ; Microbial Genomics DNA Medical Technology, Ho Chi Minh, Vietnam.; Department of Biology, Dalat University, Da Lat, Lam Dong, Vietnam., Dinh THT; Department of Pathophysiology and Immunology, Can Tho University of Medicine and Pharmacy, Can Tho, Vietnam., Vo HTM; Oxford University Clinical Research Unit, Ho Chi Minh, Vietnam., Blaydon DC; Centre for Cell Biology and Cutaneous Research, Blizard Institute, Queen Mary University of London, London, UK., Eldirany SA; Department of Dermatology and Program in Translational Biomedicine, Yale University, New Haven, CT, USA., Bunick CG; Department of Dermatology and Program in Translational Biomedicine, Yale University, New Haven, CT, USA. Christopher.bunick@yale.edu., Bui CB; Microbial Genomics DNA Medical Technology, Ho Chi Minh, Vietnam. bcbao@medvnu.edu.vn.; Department of Microbiology, City Children's Hospital, Ho Chi Minh, Vietnam. bcbao@medvnu.edu.vn.; School of Medicine, Vietnam National University, Ho Chi Minh, Vietnam. bcbao@medvnu.edu.vn.
Jazyk: angličtina
Zdroj: Human genomics [Hum Genomics] 2024 Apr 16; Vol. 18 (1), pp. 38. Date of Electronic Publication: 2024 Apr 16.
DOI: 10.1186/s40246-024-00603-x
Abstrakt: Background: Congenital ichthyosis (CI) is a collective group of rare hereditary skin disorders. Patients present with epidermal scaling, fissuring, chronic inflammation, and increased susceptibility to infections. Recently, there is increased interest in the skin microbiome; therefore, we hypothesized that CI patients likely exhibit an abnormal profile of epidermal microbes because of their various underlying skin barrier defects. Among recruited individuals of Southeast Asian ethnicity, we performed skin meta-genomics (i.e., whole-exome sequencing to capture the entire multi-kingdom profile, including fungi, protists, archaea, bacteria, and viruses), comparing 36 CI patients (representing seven subtypes) with that of 15 CI age-and gender-matched controls who had no family history of CI.
Results: This case-control study revealed 20 novel and 31 recurrent pathogenic variants. Microbiome meta-analysis showed distinct microbial populations, decreases in commensal microbiota, and higher colonization by pathogenic species associated with CI; these were correlated with increased production of inflammatory cytokines and Th17- and JAK/STAT-signaling pathways in peripheral blood mononuclear cells. In the wounds of CI patients, we identified specific changes in microbiota and alterations in inflammatory pathways, which are likely responsible for impaired wound healing.
Conclusions: Together, this research enhances our understanding of the microbiological, immunological, and molecular properties of CI and should provide critical information for improving therapeutic management of CI patients.
(© 2024. The Author(s).)
Databáze: MEDLINE
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