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Pleiotropy01:33

Pleiotropy

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...
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Single-cell Gene Expression Using Multiplex RT-qPCR to Characterize Heterogeneity of Rare Lymphoid Populations
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Distinct Variations in Gene Expression and Cell Composition across Lichen Planus Subtypes.

Cadri Knoch1, Veronika Baghin1, Patrick Turko1

  • 1Department of Dermatology, University Hospital Zurich, 8091 Zurich, Switzerland.

International Journal of Molecular Sciences
|September 14, 2024
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Summary

This study reveals distinct inflammatory gene expression and immune cell profiles across lichen planus (LP) subtypes. Understanding these differences is crucial for developing targeted treatments for this common inflammatory skin condition.

Keywords:
NanoStringimmune cell infiltratelichen planuslichen planus subtypesmultiplex immunohistochemistry

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Area of Science:

  • Dermatology
  • Immunology
  • Molecular Biology

Background:

  • Lichen planus (LP) is a common inflammatory skin disease with diverse clinical presentations.
  • Existing research lacks detailed comparative analyses of gene expression and cellular makeup across LP subtypes.

Purpose of the Study:

  • To investigate and compare gene expression profiles and immune cell compositions in different subtypes of lichen planus.
  • To identify unique molecular and cellular signatures that differentiate classical, oral, genital, and lichen planopilaris LP variants.

Main Methods:

  • Analysis of lesional skin biopsies from 28 LP patients and 7 non-diseased controls.
  • Gene expression profiling of 730 inflammation-related genes using NanoString technology.
  • Assessment of immune cell populations via multiplex immunohistochemistry.

Main Results:

  • Each LP subtype displayed unique inflammatory gene signatures.
  • Lichen planopilaris showed significant divergence with downregulated genes and upregulated complement pathway genes (C5-7), alongside increased M2 macrophages.
  • Oral and genital LP shared profiles with upregulated TNF-related and Toll-like receptor genes; oral LP had elevated cytotoxicity genes and CD8+ IL-17A+ cells.
  • Interferon gene signatures were prominent in oral and classical LP.

Conclusions:

  • Distinct differences in inflammatory gene expression and immune cell infiltration exist among LP subtypes.
  • These findings underscore the necessity for personalized therapeutic strategies tailored to the specific LP variant.