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

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

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 hypothesi...

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Tác giả chính: Nguyễn, Thị Huỳnh Nga
Định dạng: Research article
Ngôn ngữ:English
Được phát hành: 2024
Truy cập trực tuyến:https://scholar.dlu.edu.vn/handle/123456789/3435
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description 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 molec‐ ular properties of CI and should provide critical information for improving therapeutic management of CI patients. Keywords Cytokine signaling, Genetic mutation, Immune system activation and profiling, Stem cell inflammatory memory, Sepsis, Microbial infection and dysbiosis, Wound healing, Dermatologic diseases, Scaling and erythema, Physiologic protein mutations
format Research article
author Nguyễn, Thị Huỳnh Nga
spellingShingle Nguyễn, Thị Huỳnh Nga
"Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients”
author_facet Nguyễn, Thị Huỳnh Nga
author_sort Nguyễn, Thị Huỳnh Nga
title "Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients”
title_short "Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients”
title_full "Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients”
title_fullStr "Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients”
title_full_unstemmed "Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients”
title_sort "altered skin microbiome, inflammation, and jak/stat signaling in southeast asian ichthyosis patients”
publishDate 2024
url https://scholar.dlu.edu.vn/handle/123456789/3435
_version_ 1798257036161449984
spelling oai:scholar.dlu.edu.vn:123456789-34352024-04-19T23:47:42Z "Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients” Nguyễn, Thị Huỳnh Nga 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 molec‐ ular properties of CI and should provide critical information for improving therapeutic management of CI patients. Keywords Cytokine signaling, Genetic mutation, Immune system activation and profiling, Stem cell inflammatory memory, Sepsis, Microbial infection and dysbiosis, Wound healing, Dermatologic diseases, Scaling and erythema, Physiologic protein mutations 18 2024-04-18T13:52:48Z 2024-04-18T13:52:48Z 2024-04-02 Research article Bài báo đăng trên tạp chí thuộc ISI, bao gồm book chapter https://scholar.dlu.edu.vn/handle/123456789/3435 10.1186/s40246-024-00603-x en Human Genomics 1473-9542 filaggrin gene mutations in adult atopic dermatitis. JAMA Dermatol. 2018;154(3):293–300. 6. Scharschmidt TC, List K, Grice EA, Szabo R, Program NCS, Renaud G, et al. Matriptase‐deficient mice exhibit ichthyotic skin with a selective shift in skin microbiota. J Invest Dermatol. 2009;129(10):2435–42. 7. Byrd AL, Deming C, Cassidy SKB, Harrison OJ, Ng WI, Conlan S, et al. Staph- ylococcus aureus and Staphylococcus epidermidis strain diversity underly‐ ing pediatric atopic dermatitis. 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