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DGCR8 Microprocessor Subunit Mutation and Expression Deregulation in Thyroid Lesions.

Lia Rodrigues1,2,3, Sule Canberk2,3,4, Sofia Macedo2,3,4

  • 1Escola Superior de Saúde do Instituto Politécnico do Porto, Rua Dr. António Bernardino de Almeida, 4200-072 Porto, Portugal.

International Journal of Molecular Sciences
|December 11, 2022
PubMed
Summary

The DiGeorge syndrome critical region gene 8 (DGCR8) protein is implicated in thyroid cancer. This study found the p.(E518K) mutation and altered DGCR8 expression in thyroid tumors, highlighting its role in tumorigenesis.

Keywords:
DGCR8miRNAmicroprocessor complexthyroid cancer

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Area of Science:

  • Molecular Biology
  • Oncology
  • Genetics

Background:

  • DiGeorge syndrome critical region gene 8 (DGCR8) is a key protein in microRNA (miRNA) biogenesis.
  • DGCR8 has been recently recognized for its role in thyroid disease pathogenesis.

Purpose of the Study:

  • To characterize the p.(E518K) mutation and DGCR8 expression in various thyroid lesions.
  • To investigate the role of DGCR8 in thyroid tumorigenesis.

Main Methods:

  • Genotyping for the c.1552G>A p.(E518K) mutation in thyroid lesions.
  • Quantitative PCR (qPCR) to analyze DGCR8 mRNA expression.
  • Immunohistochemistry to assess DGCR8 protein expression in formalin-fixed paraffin-embedded tissues.

Main Results:

  • The p.(E518K) mutation was identified in a poorly differentiated thyroid carcinoma case.
  • Deregulation of DGCR8 mRNA expression was observed in follicular-patterned tumors.
  • DGCR8 immunoexpression patterns were analyzed in thyroid tissues.

Conclusions:

  • DGCR8 is implicated in thyroid tumorigenesis, particularly in follicular-patterned tumors.
  • The study solidifies DGCR8's role as a significant factor in miRNA-related gene mutations contributing to thyroid cancer development.