Prevalence of THRB Gene Mutations in Misan Province Thyroidism Patients
Prevalensi Mutasi Gen THRB pada Pasien Tiroid di Provinsi Misan
DOI:
https://doi.org/10.21070/ijhsm.v2i1.205Keywords:
Thyroid disorders, Thyroid hormone, TRHB gene, Novel mutation, HyperthyroidismAbstract
General Background: Thyroid disorders such as hypothyroidism and hyperthyroidism are common endocrine abnormalities characterized by disrupted levels of triiodothyronine (T3), thyroxine (T4), and thyroid-stimulating hormone (TSH). Specific Background: Mutations in the thyroid hormone receptor beta (THRB) gene are implicated in thyroid hormone resistance syndromes and potentially in other thyroid dysfunctions. Knowledge Gap: However, there is limited data regarding the prevalence of THRB gene mutations among thyroid disorder patients in Misan Province, Iraq. Aims: This study aimed to evaluate the presence of THRB gene mutations among women diagnosed with thyroid disorders and assess corresponding hormonal variations across age groups. Results: Hormonal analysis revealed significant deviations in FT3, FT4, and TSH levels in both hypothyroid and hyperthyroid patients across multiple age groups. Molecular analysis, however, did not detect any pathogenic mutations in the THRB gene. Novelty: Despite the identification of several unique haplotypes among patients, none corresponded to known pathogenic mutations, suggesting possible population-specific genetic profiles without direct impact on receptor function. Implications: These findings underscore the need for broader genetic screening beyond THRB in diagnosing thyroid disorders and highlight the limited role of THRB mutations in the pathogenesis of thyroid dysfunction in this regional cohort.
Highlight :
- No mutations were found in the THRB gene in patients with hypothyroidism and hyperthyroidism.
- Hormone analysis showed significant differences in FT3, FT4, and TSH levels between age groups.
- There were ten varying THRB gene haplotypes, but no mutations were detected.
Keywords : Thyroid disorders, Thyroid hormone, TRHB gene, Novel mutation, Hyperthyroidism
References
1. K. T. Patton dan G. A. Thibodeau, The Human Body in Health & Disease, 7th ed., Elsevier Health Sciences, 2017.
2. R. Senese, F. Cioffi, P. De Lange, F. Goglia, dan A. Lanni, “Thyroid: Biological Actions of ‘Nonclassical’ Thyroid Hormones,” Journal of Endocrinology, vol. 221, no. 2, pp. R1–R12, 2014.
3. W. Ahmad, A. Ahmad, C. Lu, B. A. Khoso, dan L. Huang, “A Novel Hybrid Decision Support System for Thyroid Disease Forecasting,” Soft Computing, vol. 22, no. 16, pp. 5377–5383, 2018.
4. E. N. Pearce, “Iodine Deficiency in Children,” Paediatric Thyroidology, vol. 26, pp. 130–138, 2014.
5. A. Garg dan M. P. Vanderpump, “Subclinical Thyroid Disease,” British Medical Bulletin, vol. 107, no. 1, pp. 101–116, 2013.
6. Y. Nagayama, “Radiation-Related Thyroid Autoimmunity and Dysfunction,” Journal of Radiation Research, vol. 59, suppl_2, pp. ii98–ii107, 2018.
7. A. C. Guyton dan J. E. Hall, “The Thyroid Metabolic Hormones,” dalam Textbook of Medical Physiology, 10th ed., New York: Saunders Company, 2006, ch. 10, pp. 858–868.
8. S. Salman, A. Riaz, dan A. Waheed, “The Mobile Apps and Literature Review on the Major Causes of Deaths According to WHO (World Health Organization),” Journal of Applied Environmental and Biological Sciences, vol. 6, no. 4, pp. 16–24, 2016.
9. W. M. Van der Deure, M. Medici, R. P. Peeters, dan T. J. Visser, “Genetic Influences on Thyroid Function Tests,” dalam Thyroid Function Testing, 1st ed., Springer, 2010, pp. 21–43.
10. A. Hebrant, W. C. G. Van Staveren, C. Maenhaut, J. E. Dumont, dan J. Leclère, “Genetic Hyperthyroidism: Hyperthyroidism Due to Activating TSHR Mutations,” European Journal of Endocrinology, vol. 164, no. 1, pp. 1–9, 2011.
11. W. Yang dan J. Yan, “Resistance to Thyroid Hormone Caused by a G344R Mutation of Thyroid Hormone Receptor Beta Gene: A Case Report Study,” Endocrinology & Metabolic Syndrome, vol. 5, no. 2, pp. 2–5, 2016.
12. X. Zhu dan S. Cheng, “Thyroid Hormone Nuclear Receptors and Molecular Actions,” dalam Principles of Endocrinology and Hormone Action, A. Belfiore dan D. LeRoith, Eds., 1st ed., Springer, 2018, pp. 233–257.
13. J. Y. Kim et al., “Resistance to Thyroid Hormone With Missense Mutation (V349M) in the Thyroid Hormone Receptor Beta Gene,” The Korean Journal of Internal Medicine, vol. 23, no. 1, pp. 45–48, 2008.
14. T. Kimura, Y. Hayashi, Y. Tsukamoto, dan Y. Okamoto, “The Mutant Thyroid Hormone Receptor Beta R320P Causes Syndrome of Resistance to Thyroid Hormone,” Case Reports in Endocrinology, vol. 2018, pp. 1–3, 2018.
15. E. Işık et al., “Thyroid Hormone Resistance: A Novel Mutation in Thyroid Hormone Receptor Beta (THRB) Gene—Case Report,” Turkish Journal of Pediatrics, vol. 55, no. 3, pp. 322–327, 2013.
16. P. A. Masters dan R. J. Simons, “Clinical Use of Sensitive Assays for Thyroid-Stimulating Hormone,” Journal of General Internal Medicine, vol. 11, no. 2, pp. 115–127, 1996.
17. J. D. Safer et al., “Isoform Variable Action Among Thyroid Hormone Receptor Mutants Provides Insight Into Pituitary Resistance to Thyroid Hormone,” Molecular Endocrinology, vol. 11, no. 1, pp. 16–26, 1997.
18. S. Y. Wu, P. M. Sadow, S. Refetoff, dan R. E. Weiss, “Tissue Responses to Thyroid Hormone in a Kindred With Resistance to Thyroid Hormone Harboring a Commonly Occurring Mutation in the Thyroid Hormone Receptor β Gene (P453T),” Journal of Laboratory and Clinical Medicine, vol. 146, no. 2, pp. 85–94, 2005.
19. S. Refetoff, “Resistance to Thyroid Hormone: One of Several Defects Causing Reduced Sensitivity to Thyroid Hormone,” Nature Clinical Practice Endocrinology & Metabolism, vol. 4, no. 1, p. 1, 2008.
20. J. Sambrook, E. F. Fritsch, dan T. Maniatis, Molecular Cloning: A Laboratory Manual, 2nd ed., Cold Spring Harbor Laboratory Press, 1989.
21. H. Rahi, Z. M. Al-Hejaj, D. T. Al-Taie, dan Z. A. Almusawi, “The Relationship Between T3, T4, TSH, and Vitamin D3 in Obese Women From a Small Population in Basrah City,” Journal of Bioscience and Applied Research, vol. 10, no. 5, pp. 120–126, Dec. 2024.
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2024 Duha T. Al-Taie, Zahr'aa Kateb Jumaa, Rehal Jehad Husain, Eman H. Rahi
This work is licensed under a Creative Commons Attribution 4.0 International License.
