Electrolyte Blood Press.  2016 Dec;14(2):21-26. 10.5049/EBP.2016.14.2.21.

Genetic Variations of Tyrosine Hydroxylase in the Pathogenesis of Hypertension

Affiliations
  • 1Division of Nephrology, Department of Internal Medicine, Kyung Hee University School of Medicine, Seoul, Korea. lshkidney@khu.ac.kr

Abstract

One of the major pathophysiological features of primary hypertension is an inappropriate activation of the sympathetic nervous system, which is mediated by excessive synthesis and secretion of catecholamine into the blood. Tyrosine hydroxylase (TH), a rate-limiting enzyme in the synthesis of catecholamine, has been highlighted because genetic variations of TH could alter the activity of the sympathetic nervous system activity and subsequently contribute to the pathogenesis of hypertension. Here, we discuss the role of TH as a regulator of sympathetic activity and review several studies that investigated the relationship between genetic variations of TH and hypertension.

Keyword

Tyrosine hydroxylase; Hypertension; Single nucleotide polymorphism

MeSH Terms

Genetic Variation*
Hypertension*
Polymorphism, Single Nucleotide
Sympathetic Nervous System
Tyrosine 3-Monooxygenase*
Tyrosine*
Tyrosine
Tyrosine 3-Monooxygenase

Reference

1. Luft FC. Hypertension as a complex genetic trait. Semin Nephrol. 2002; 22:115–126. PMID: 11891505.
Article
2. Croft JB, Foster TA, Parker FC, Cresanta JL, Hunter SM, Webber LS, Srinivasan SR, Berenson GS. Transitions of cardiovascular risk from adolescence to young adulthood--the Bogalusa Heart Study: I. Effects of alterations in lifestyle. J Chronic Dis. 1986; 39:81–90. PMID: 3944230.
Article
3. Hunt SC, Hasstedt SJ, Kuida H, Stults BM, Hopkins PN, Williams RR. Genetic heritability and common environmental components of resting and stressed blood pressures, lipids, and body mass index in Utah pedigrees and twins. Am J Epidemiol. 1989; 129:625–638. PMID: 2916556.
Article
4. Williams RR, Hasstedt SJ, Hunt SC, Wu LL, Hopkins PN, Berry TD, Stults BM, Barlow GK, Kuida H. Genetic traits related to hypertension and electrolyte metabolism. Hypertension. 1991; 17:I69–I73. PMID: 1987014.
Article
5. Harrap SB. Hypertension: genes versus environment. Lancet. 1994; 344:169–171. PMID: 7912770.
Article
6. Goldstein DS. Plasma catecholamines and essential hypertension. An analytical review. Hypertension. 1983; 5:86–99. PMID: 6336721.
Article
7. Mancia G, Grassi G. The autonomic nervous system and hypertension. Circ Res. 2014; 114:1804–1814. PMID: 24855203.
Article
8. Mancia G. Bjorn Folkow Award Lecture. The sympathetic nervous system in hypertension. J Hypertens. 1997; 15:1553–1565. PMID: 9488206.
9. Grassi G. Role of the sympathetic nervous system in human hypertension. J Hypertens. 1998; 16:1979–1987. PMID: 9886886.
Article
10. Esler M, Lambert G, Jennings G. Regional norepinephrine turnover in human hypertension. Clin Exp Hypertens A. 1989; 11(Suppl 1):75–89.
Article
11. Julius S, Krause L, Schork NJ, Mejia AD, Jones KA, van de Ven C, Johnson EH, Sekkarie MA, Kjeldsen SE, Petrin J, et al. Hyperkinetic borderline hypertension in Tecumseh, Michigan. J Hypertens. 1991; 9:77–84. PMID: 1848264.
Article
12. Converse RL Jr, Jacobsen TN, Toto RD, Jost CM, Cosentino F, Fouad-Tarazi F, Victor RG. Sympathetic overactivity in patients with chronic renal failure. N Engl J Med. 1992; 327:1912–1918. PMID: 1454086.
Article
13. Schobel HP, Fischer T, Heuszer K, Geiger H, Schmieder RE. Preeclampsia -- a state of sympathetic overactivity. N Engl J Med. 1996; 335:1480–1485. PMID: 8890098.
Article
14. Grassi G, Seravalle G, Bertinieri G, Turri C, Dell'Oro R, Stella ML, Mancia G. Sympathetic and reflex alterations in systo-diastolic and systolic hypertension of the elderly. J Hypertens. 2000; 18:587–593. PMID: 10826562.
Article
15. Grassi G, Seravalle G, Dell'Oro R, Turri C, Bolla GB, Mancia G. Adrenergic and reflex abnormalities in obesity-related hypertension. Hypertension. 2000; 36:538–542. PMID: 11040232.
Article
16. Grassi G, Quarti-Trevano F, Dell'oro R, Mancia G. Essential hypertension and the sympathetic nervous system. Neurol Sci. 2008; 29(Suppl 1):S33–S36. PMID: 18545892.
Article
17. Grassi G, Quarti-Trevano F, Seravalle G, Arenare F, Volpe M, Furiani S, Dell'Oro R, Mancia G. Early sympathetic activation in the initial clinical stages of chronic renal failure. Hypertension. 2011; 57:846–851. PMID: 21300663.
Article
18. Grima B, Lamouroux A, Boni C, Julien JF, Javoy-Agid F, Mallet J. A single human gene encoding multiple tyrosine hydroxylases with different predicted functional characteristics. Nature. 1987; 326:707–711. PMID: 2882428.
Article
19. Nagatsu T. Tyrosine hydroxylase: human isoforms, structure and regulation in physiology and pathology. Essays Biochem. 1995; 30:15–35. PMID: 8822146.
20. Tank AW, Xu L, Chen X, Radcliffe P, Sterling CR. Post-transcriptional regulation of tyrosine hydroxylase expression in adrenal medulla and brain. Ann N Y Acad Sci. 2008; 1148:238–248. PMID: 19120116.
Article
21. Kunugi H, Kawada Y, Hattori M, Ueki A, Otsuka M, Nanko S. Association study of structural mutations of the tyrosine hydroxylase gene with schizophrenia and Parkinson's disease. Am J Med Genet. 1998; 81:131–133. PMID: 9613851.
Article
22. Souery D, Lipp O, Rivelli SK, Massat I, Serretti A, Cavallini C, Ackenheil M, Adolfsson R, Aschauer H, Blackwood D, Dam H, Dikeos D, Fuchshuber S, Heiden M, Jakovljevic M, Kaneva R, Kessing L, Lerer B, Lonnqvist J, Mellerup T, Milanova V, Muir W, Nylander PO, Oruc L, Mendlewicz J, et al. Tyrosine hydroxylase polymorphism and phenotypic heterogeneity in bipolar affective disorder: a multicenter association study. Am J Med Genet. 1999; 88:527–532. PMID: 10490711.
Article
23. Chao HM, Richardson MA. Aromatic amino acid hydroxylase genes and schizophrenia. Am J Med Genet. 2002; 114:626–630. PMID: 12210276.
Article
24. Bianchetti MG, Beretta-Piccoli C, Weidmann P, Ferrier C. Blood pressure control in normotensive members of hypertensive families. Kidney Int. 1986; 29:882–888. PMID: 3520094.
Article
25. Sharma P, Hingorani A, Jia H, Ashby M, Hopper R, Clayton D, Brown MJ. Positive association of tyrosine hydroxylase microsatellite marker to essential hypertension. Hypertension. 1998; 32:676–682. PMID: 9774362.
Article
26. Jindra A, Jachymova M, Horky K, Peleska J, Umnerova V, Bultas J, Savlikova J. Association analysis of two tyrosine hydroxylase gene polymorphisms in normotensive offspring from hypertensive families. Blood Press. 2000; 9:250–254. PMID: 11193127.
Article
27. Barbeau P, Litaker MS, Jackson RW, Treiber FA. A tyrosine hydroxylase microsatellite and hemodynamic response to stress in a multi-ethnic sample of youth. Ethn Dis. 2003; 13:186–192. PMID: 12785414.
28. Zhang L, Rao F, Wessel J, Kennedy BP, Rana BK, Taupenot L, Lillie EO, Cockburn M, Schork NJ, Ziegler MG, O'Connor DT. Functional allelic heterogeneity and pleiotropy of a repeat polymorphism in tyrosine hydroxylase: prediction of catecholamines and response to stress in twins. Physiol Genomics. 2004; 19:277–291. PMID: 15367723.
Article
29. Kumer SC, Vrana KE. Intricate regulation of tyrosine hydroxylase activity and gene expression. J Neurochem. 1996; 67:443–462. PMID: 8764568.
Article
30. Rao F, Zhang L, Wessel J, Zhang K, Wen G, Kennedy BP, Rana BK, Das M, Rodriguez-Flores JL, Smith DW, Cadman PE, Salem RM, Mahata SK, Schork NJ, Taupenot L, Ziegler MG, O'Connor DT. Tyrosine hydroxylase, the rate-limiting enzyme in catecholamine biosynthesis: discovery of common human genetic variants governing transcription, autonomic activity, and blood pressure in vivo. Circulation. 2007; 116:993–1006. PMID: 17698732.
31. Wang L, Li B, Lu X, Zhao Q, Li Y, Ge D, Li H, Zhang P, Chen S, Chen R, Qiang B, Gu D. A functional intronic variant in the tyrosine hydroxylase (TH) gene confers risk of essential hypertension in the Northern Chinese Han population. Clin Sci (Lond). 2008; 115:151–158. PMID: 18208403.
Article
32. Zhang K, Zhang L, Rao F, Brar B, Rodriguez-Flores JL, Taupenot L, O'Connor DT. Human tyrosine hydroxylase natural genetic variation: delineation of functional transcriptional control motifs disrupted in the proximal promoter. Circ Cardiovasc Genet. 2010; 3:187–198. PMID: 20124442.
33. Nielsen SJ, Jeppesen J, Torp-Pedersen C, Hansen TW, Linneberg A, Fenger M. Tyrosine hydroxylase polymorphism (C-824T) and hypertension: a population-based study. Am J Hypertens. 2010; 23:1306–1311. PMID: 20706199.
Article
34. Chen L, Chen X, Shi R, Guo Y, Chen A, Bai Y, Chen J, Yang T, Zhang G. [Genetic polymorphism in tyrosine hydroxylase gene and essential hypertension in Hunan Han population]. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2010; 35:826–832. PMID: 20818075.
35. van Deventer CA, Louw R, van der Westhuizen FH, Vorster CB, Malan L. The contribution of the C-824T tyrosine hydroxylase polymorphism to the prevalence of hypertension in a South African cohort: the SABPA study. Clin Exp Hypertens. 2013; 35:614–619. PMID: 23489065.
Article
36. Wachtel H, Kennedy EH, Zaheer S, Bartlett EK, Fishbein L, Roses RE, Fraker DL, Cohen DL. Preoperative metyrosine improves cardiovascular outcomes for patients undergoing surgery for oheochromocytoma and paraganglioma. Ann Surg Oncol. 2015; 22(Suppl 3):S646–S654. PMID: 26374407.
Full Text Links
  • EBP
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr