AI Article Synopsis
- DGCR8 is identified as a key protein in the miRNA biogenesis pathway with a significant connection to thyroid diseases.
- The study focused on the p.(E518K) mutation of DGCR8 and its expression levels in different thyroid lesions, analyzing genetic material and mRNA from tissue samples.
- Findings reveal the first instance of the p.(E518K) mutation in poorly differentiated thyroid carcinoma and show that DGCR8 expression is altered in follicular-patterned thyroid tumors, highlighting its role in thyroid tumor development.
Article Abstract
DGCR8 emerged recently as miRNAs biogenesis pathway protein with a highlighted role in thyroid disease. This study aimed to characterize this miRNA biogenesis component, in particular the p.(E518K) mutation and DGCR8 expression in a series of thyroid lesions. The series of thyroid lesions was genotyped for the c.1552G>A p.(E518K) mutation. When frozen tissue was available, DGCR8 mRNA expression was analysed by qPCR. Formalin-fixed paraffin-embedded tissues were studied for DGCR8 immunoexpression. We present for the first time the p.(E518K) mutation in a case of poorly differentiated thyroid carcinoma and present the deregulation of DGCR8 expression at mRNA level in follicular-patterned tumours. The obtained data solidify DGCR8 as another important player of miRNA-related gene mutations in thyroid tumorigenesis, particularly in follicular-patterned thyroid tumours.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9740158 | PMC |
| http://dx.doi.org/10.3390/ijms232314812 | DOI Listing |
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