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Rıfat Bircan1, Hülya Ilıksu Gözü2, Esra Ulu1
1Faculty of Arts and Sciences, Department of Molecular Biology & Genetics, Tekirdağ Namık Kemal University, Tekirdağ, Turkey.
Summary
Mitochondrial DNA (mtDNA) variations influence thyroid tumor risk and progression. Specific mtDNA haplogroups and control region instabilities may serve as biomarkers for thyroid nodule diagnosis and prognosis.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- Mitochondrial DNA (mtDNA) defects are linked to various diseases, including cancers.
- The specific role of mtDNA variations in thyroid cancer development remains controversial.
- Investigating mtDNA control region (CR) variations can elucidate their impact on thyroid tumor progression and susceptibility.
Purpose of the Study:
- To examine the role of mtDNA control region (CR) variations in thyroid tumor progression.
- To assess the influence of mtDNA haplogroups on susceptibility to thyroid tumors.
- To identify potential diagnostic and prognostic biomarkers for thyroid nodules.
Main Methods:
- Screening of mtDNA CR variations using Sanger sequencing in 108 hot thyroid nodules (HTNs), 95 cold thyroid nodules (CTNs), 48 papillary thyroid carcinoma (PTC) samples, and 104 healthy controls.
- Analysis of single nucleotide polymorphisms (SNPs) and repeat sequences within the mtDNA CR.
- Comparison of mutation frequencies between benign nodules, malignant tumors, and healthy controls.
Main Results:
- mtDNA haplogroup U was significantly associated with susceptibility to benign thyroid entities.
- Eight specific SNPs in the mtDNA CR correlated with benign and malignant thyroid nodules in the Turkish population.
- Increased frequency of C7 repeats in D310 and somatic mutations in D514 CA dinucleotide repeats were observed in CTNs and PTC samples.
- Higher frequency of somatic mutations in mtMSI regions (T16189C, D514 CA repeats) in PTC compared to benign nodules.
- D310 somatic mutations were more frequent in HTNs than in CTNs and PTCs.
Conclusions:
- mtDNA D310 instability is not implicated in papillary thyroid carcinoma tumorigenesis but may serve as a diagnostic biomarker for premalignant thyroid tumor cells.
- D514 CA instability could be a prognostic biomarker for benign to malignant transformation in thyroid tumors.
- mtDNA variations play a role in thyroid nodule development and progression, offering potential diagnostic and prognostic markers.