Genetic defects of hydrogen peroxide generation in the thyroid gland

Journal of Endocrinological Investigation

Volumn 36, Issue 4, 2013, Pages 261-266

  Weber, G ^a   Rabbiosi, S ^a   Zamproni, I ^a   Fugazzola, L ^b  

^a SAN RAFFAELE HOSPITAL   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

Author keywords

Congenital hypothyroidism; Dual oxidase (DUOX); Dual oxidase maturation factor (DUOXA); Genetics; Hydrogen peroxide.

Indexed keywords

DUAL OXIDASE 2; DUAL OXIDASE MATURATION FACTOR 2; HYDROGEN PEROXIDE; OXIDOREDUCTASE; PEPTIDES AND PROTEINS; THYROID HORMONE; THYROTROPIN; UNCLASSIFIED DRUG;

CONGENITAL HYPOTHYROIDISM; DUOX2 GENE; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC DISORDER; GOITER; HUMAN; HYPOTHYROIDISM; PHENOTYPE; REVIEW; THYROID GLAND; THYROID HORMONE SYNTHESIS; THYROTROPIN RELEASE;

ANIMALS; CONGENITAL HYPOTHYROIDISM; DNA MUTATIONAL ANALYSIS; GENETIC DISEASES, INBORN; HUMANS; HYDROGEN PEROXIDE; MEMBRANE PROTEINS; METABOLIC DISEASES; METABOLIC NETWORKS AND PATHWAYS; NADPH OXIDASE; THYROID GLAND; THYROID HORMONES;

EID: 84878978667     PISSN: 03914097     EISSN: 17208386     Source Type: Journal    
DOI: 10.3275/8847     Document Type: Review

References (44)

1. Corbetta C, Weber G, Cortinovis F, et al. A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH). Clin Endocrinol (Oxf) 2009, 71: 739-45.
2. Harris KB, Pass KA. Increase in congenital hypothyroidism in New York State and in the United States. Mol Genet Metab 2007, 91: 268-77. (Pubitemid 46819123)
3. Mengreli C, Kanaka-Gantenbein C, Girginoudis P, et al. Screening for congenital hypothyroidism: the significance of threshold limit in false-negative results. J Clin Endocrinol Metab 2010, 95: 4283-90.
4. Pearce MS, Korada M, Day J, et al. Increasing Incidence, but Lack of Seasonality, of Elevated TSH Levels, on Newborn Screening, in the North of England. J Thyroid Res 2010, 2010: 101948.
5. Park SM, Chatterjee VK. Genetics of congenital hypothyroidism. J Med Genet 2005, 42: 379-89. (Pubitemid 40685678)
6. Grasberger H, Refetoff S. Genetic causes of congenital hypothyroidism due to dyshormonogenesis. Curr Opin Pediatr 2011, 23: 421-8.
7. Persani L, Calebiro D, Cordella D, et al. Genetics and phenomics of hypothyroidism due to TSH resistance. Mol Cell Endocrinol 2010, 322: 72-82.
8. Moreno JC, Bikker H, Kempers MJ, et al. Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. N Engl J Med 2002, 347: 95-102. (Pubitemid 34753479)
9. Zamproni I, Grasberger H, Cortinovis F, et al. Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. J Clin Endocrinol Metab 2008, 93: 605-10. (Pubitemid 351240837)
10. Moreno JC. Identification of novel genes involved in congenital hypothyroidism using serial analysis of gene expression. Horm Res 2003, 60 (Suppl 3): 96-102. (Pubitemid 37548211)
11. Gillam MP, Kopp P. Genetic defects in thyroid hormone synthesis. Curr Opin Pediatr 2001, 13: 364-72. (Pubitemid 32701868)
12. Bedard K, Krause KH. The NOX family of ROS-generating NADPH oxidases: physiology and pathophysiology. Physiol Rev 2007, 87: 245-313. (Pubitemid 46209993)
13. Quinn MT, Ammons MC, Deleo FR. The expanding role of NADPH oxidases in health and disease: no longer just agents of death and destruction. Clin Sci (Lond) 2006, 111: 1-20. (Pubitemid 44023407)
14. Riou C, Remy C, Rabilloud R, Rousset B, Fonlupt P. H2O2 induces apoptosis of pig thyrocytes in culture. J Endocrinol 1998, 156: 315-22. (Pubitemid 28105821)
15. Maier J, van Steeg H, van Oostrom C, Karger S, Paschke R, Krohn K. Deoxyribonucleic acid damage and spontaneous mutagenesis in the thyroid gland of rats and mice. Endocrinology 2006, 147: 3391-7. (Pubitemid 43901130)
16. Song Y, Driessens N, Costa M, et al. Roles of hydrogen peroxide in thyroid physiology and disease. J Clin Endocrinol Metab 2007, 92: 3764-73. (Pubitemid 47607620)
17. Köhrle J, Jakob F, Contempré B, Dumont JE. Selenium, the thyroid, and the endocrine system. Endocr Rev 2005, 26: 944-84. (Pubitemid 41770159)
18. Björkman U, Ekholm R. Generation of H2O2 in isolated porcine thyroid follicles. Endocrinology 1984, 115: 392-8. (Pubitemid 14086839)
19. Dupuy C, Ohayon R, Valent A, Noël-Hudson MS, Dème D, Virion A. Purification of a novel flavoprotein involved in the thyroid NADPH oxidase. Cloning of the porcine and human cdnas. J Biol Chem 1999, 274: 37265-9.
20. De Deken X, Wang D, Many MC, et al. Cloning of two human thyroid cDNAs encoding new members of the NADPH oxidase family. J Biol Chem 2000, 275: 23227-33. (Pubitemid 30646220)
21. Pachucki J, Wang D, Christophe D, Miot F. Structural and functional characterization of the two human ThOX/Duox genes and their 5′-flanking regions. Mol Cell Endocrinol 2004, 214: 53-62. (Pubitemid 38210115)
22. Ameziane-El-Hassani R, Morand S, Boucher JL, et al. Dual oxidase-2 has an intrinsic Ca2+-dependent H2O2-generating activity. J Biol Chem 2005, 280: 30046-54. (Pubitemid 41216180)
23. Rigutto S, Hoste C, Grasberger H, et al. Activation of dual oxidases Duox1 and Duox2: differential regulation mediated by camp-dependent protein kinase and protein kinase C-dependent phosphorylation. J Biol Chem 2009, 284: 6725-34.
24. Grasberger H, Refetoff S. Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent. J Biol Chem 2006, 281: 18269-72. (Pubitemid 44035482)
25. Grasberger H, De Deken X, Miot F, Pohlenz J, Refetoff S. Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor. Mol Endocrinol 2007, 21: 1408-21. (Pubitemid 46984746)
26. Edens WA, Sharling L, Cheng G, et al. Tyrosine cross-linking of extracellular matrix is catalyzed by Duox, a multidomain oxidase/peroxidase with homology to the phagocyte oxidase subunit gp91phox. J Cell Biol 2001, 154: 879-91. (Pubitemid 34292967)
27. El Hassani RA, Benfares N, Caillou B, et al. Dual oxidase2 is expressed all along the digestive tract. Am J Physiol Gastrointest Liver Physiol 2005, 288: G933-42. (Pubitemid 40563134)
28. Geiszt M, Witta J, Baffi J, Lekstrom K, Leto TL. Dual oxidases represent novel hydrogen peroxide sources supporting mucosal surface host defense. FASEB J 2003, 17: 1502-4.
29. Forteza R, Salathe M, Miot F, Forteza R, Conner GE. Regulated hydrogen peroxide production by Duox in human airway epithelial cells. Am J Respir Cell Mol Biol 2005, 32: 462-9. (Pubitemid 40629332)
30. Schwarzer C, Machen TE, Illek B, Fischer H. NADPH oxidase-dependent acid production in airway epithelial cells. J Biol Chem 2004, 279: 36454-61. (Pubitemid 39128986)
31. Ha EM, Oh CT, Bae YS, Lee WJ. A direct role for dual oxidase in Drosophila gut immunity. Science 2005, 310: 847-50. (Pubitemid 41567342)
32. Luxen S, Belinsky SA, Knaus UG. Silencing of DUOX NADPH oxidases by promoter hypermethylation in lung cancer. Cancer Res 2008, 68: 1037-45. (Pubitemid 351272221)
33. Grasberger H, De Deken X, Barca Mayo O, et al. Mice deficient in dual oxidase maturation factors are severely hypothyroid. Mol Endocrinol 2012, 26: 481-92.
34. Vigone MC, Fugazzola L, Zamproni I, et al. Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings. Hum Mutat 2005, 26: 395.
35. Varela V, Rivolta CM, Esperante SA, Gruñeiro-Papendieck L, Chiesa A, Targovnik HM. Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A>C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect. Clin Chem 2006, 52: 182-91. (Pubitemid 43185478)
36. Pfarr N, Korsch E, Kaspers S, et al. Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene. Clin Endocrinol (Oxf) 2006, 65: 810-5. (Pubitemid 44772363)
37. Maruo Y, Takahashi H, Soeda I, et al. Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program. J Clin Endocrinol Metab 2008, 93: 4261-7. (Pubitemid 352789520)
38. Ohye H, Fukata S, Hishinuma A, et al. A novel homozygous missense mutation of the dual oxidase 2 (DUOX2) gene in an adult patient with large goiter. Thyroid 2008, 18: 561-6. (Pubitemid 351667827)
39. Tonacchera M, De Marco G, Agretti P, et al. Identification and functional studies of two new dual-oxidase 2 (DUOX2) mutations in a child with congenital hypothyroidism and a eutopic normal-size thyroid gland. J Clin Endocrinol Metab 2009, 94: 4309-14.
40. Hoste C, Rigutto S, Van Vliet G, Miot F, De Deken X. Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidism. Hum Mutat 2010, 31: E1304-19.
41. De Marco G, Agretti P, Montanelli L, et al. Identification and functional analysis of novel dual oxidase 2 (DUOX2) mutations in children with congenital or subclinical hypothyroidism. J Clin Endocrinol Metab 2011, 96: E1335-9.
42. Narumi S, Muroya K, Asakura Y, Aachi M, Hasegawa T. Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients. J Clin Endocrinol Metab 2011, 96: E1838-42.
43. Cortinovis, Zamproni, Pesani, et al. Prevalence of DUOX2 mutations among children affected by congenital hypothyroidism adn dyshormonogenesis. Horm Res 2008, 70: 40.
44. Hulur I, Hermanns P, Nestoris C, et al. A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion. J Clin Endocrinol Metab 2011, 96: E841-5.