Local Control of Aldosterone Production and Primary Aldosteronism

Trends in Endocrinology and Metabolism

Volumn 27, Issue 3, 2016, Pages 123-131

  Lalli, Enzo ^a,b,c   Barhanin, Jacques ^d,e   Zennaro, Maria Christina ^f,g,h   Warth, Richard ⁱ  

^a INSTITUT DE PHARMACOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^b NEOGENEX CANCER CNRS International Associated Laboratory   (France)

^c UNIVERSITÉ CÔTE D'AZUR   (France)

^d Nice Sophia Antipolis University   (France)

^e Laboratory of Excellence Ion Channel Science and Therapeutics   (France)

^f PARIS CARDIOVASCULAR RESEARCH CENTER   (France)

^g UNIVERSITÉ PARIS DESCARTES   (France)

^h HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

ⁱ UNIVERSITY OF REGENSBURG   (Germany)

Author keywords

Adrenal cortex; Aldosterone; Calcium; Potassium channels

Indexed keywords

ALDOSTERONE; BETA CATENIN; POTASSIUM CHANNEL; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR; WNT PROTEIN;

ADRENAL CORTEX; ALDOSTERONE RELEASE; CALCIUM CELL LEVEL; HORMONE SYNTHESIS; HUMAN; MAST CELL; MEMBRANE POTENTIAL; NONHUMAN; PATHOGENESIS; PATHOPHYSIOLOGY; PRIMARY HYPERALDOSTERONISM; PRIORITY JOURNAL; REGULATORY MECHANISM; RENIN ANGIOTENSIN ALDOSTERONE SYSTEM; REVIEW; SIGNAL TRANSDUCTION; SOMATIC MUTATION; ADRENAL CORTEX ADENOMA; ADRENAL CORTEX TUMOR; ANIMAL; BIOLOGICAL MODEL; GENE EXPRESSION REGULATION; HYPERALDOSTERONISM; METABOLISM; PHYSIOLOGY; SECRETION (PROCESS);

ADRENAL CORTEX; ADRENAL CORTEX NEOPLASMS; ADRENOCORTICAL ADENOMA; ALDOSTERONE; ANIMALS; GENE EXPRESSION REGULATION; GENE EXPRESSION REGULATION, NEOPLASTIC; HUMANS; HYPERALDOSTERONISM; MODELS, BIOLOGICAL;

EID: 84958106608     PISSN: 10432760     EISSN: 18793061     Source Type: Journal    
DOI: 10.1016/j.tem.2016.01.003     Document Type: Review

References (73)

1. Gomez-Sanchez C.E., et al. Somatic mutations of the ATP1A1 gene and aldosterone-producing adenomas. Mol. Cell. Endocrinol. 2015, 408:213-219.
2. Stowasser M. Aldosterone excess and resistant hypertension: investigation and treatment. Curr. Hypertens. Rep. 2014, 16:439.
3. Viola A., et al. Diagnosis and treatment of unilateral forms of primary aldosteronism. Curr. Hypertens. Rev. 2013, 9:156-165.
4. Mulatero P., et al. Long-term cardio- and cerebrovascular events in patients with primary aldosteronism. J. Clin. Endocrinol. Metab. 2013, 98:4826-4833.
5. Savard S., et al. Cardiovascular complications associated with primary aldosteronism: a controlled cross-sectional study. Hypertension 2013, 62:331-336.
6. Letavernier E., et al. Blood pressure outcome of adrenalectomy in patients with primary hyperaldosteronism with or without unilateral adenoma. J. Hypertens. 2008, 26:1816-1823.
7. Funder J.W., et al. Case detection, diagnosis, and treatment of patients with primary aldosteronism: an Endocrine Society clinical practice guideline. J. Clin. Endocrinol. Metab. 2008, 93:3266-3281.
8. Spät A., Hunyady L. Control of aldosterone secretion: a model for convergence in cellular signaling pathways. Physiol. Rev. 2004, 84:489-539.
9. Lefebvre H., et al. Autocrine/paracrine regulatory mechanisms in adrenocortical neoplasms responsible for primary adrenal hypercorticism. Eur. J. Endocrinol. 2013, 169:R115-R138.
10. Doi Y., et al. Effect of changes in sodium or potassium balance, and nephrectomy, on adrenal renin and aldosterone concentrations. Hypertension 1984, 6:I124-I129.
11. Peters J., et al. Losartan and angiotensin II inhibit aldosterone production in anephric rats via different actions on the intraadrenal renin-angiotensin system. Endocrinology 1999, 140:675-682.
12. +-induced aldosterone secretion from human adrenocortical NCI-H295 cells. Hypertension 1999, 33:1025-1030.
13. Kon Y., et al. Renin immunohistochemistry in the adrenal gland of the mouse fetus and neonate. Anat. Rec. 1990, 227:124-131.
14. Lee G., et al. Homeostatic responses in the adrenal cortex to the absence of aldosterone in mice. Endocrinology 2005, 146:2650-2656.
15. Bandulik S., et al. Severe hyperaldosteronism in neonatal Task3 potassium channel knockout mice is associated with activation of the intra-adrenal renin-angiotensin system. Endocrinology 2013, 154:2712-2722.
16. Lefebvre H., et al. Production and metabolism of serotonin (5-HT) by the human adrenal cortex: paracrine stimulation of aldosterone secretion by 5-HT. J. Clin. Endocrinol. Metab. 2001, 86:5001-5007.
17. Lefebvre H., et al. Characterization of serotonin(4) receptors in adrenocortical aldosterone-producing adenomas: in vivo and in vitro studies. J. Clin. Endocrinol. Metab. 2002, 87:1211-1216.
18. Lampron A., et al. Regulation of aldosterone secretion by several aberrant receptors including for glucose-dependent insulinotropic peptide in a patient with an aldosteronoma. J. Clin. Endocrinol. Metab. 2009, 94:750-756.
19. Duparc C., et al. Mast cell hyperplasia is associated with aldosterone hypersecretion in a subset of aldosterone-producing adenomas. J. Clin. Endocrinol. Metab. 2015, 100:E550-E560.
20. Mazzuco T.L., et al. Aberrant hormone receptors in primary aldosteronism. Horm. Metab. Res. 2010, 42:416-423.
21. Bassett M.H., et al. The orphan nuclear receptors NURR1 and NGFIB regulate adrenal aldosterone production. Mol. Endocrinol. 2004, 18:279-290.
22. Lalli E. Adrenocortical development and cancer: focus on SF-1. J. Mol. Endocrinol. 2010, 44:301-307.
23. Ye P., et al. Differential effects of high and low Steroidogenic Factor-1 expression on CYP11B2 expression and aldosterone production in adrenocortical cells. Endocrinology 2009, 150:1303-1309.
24. El Wakil A., Lalli E. The Wnt/beta-catenin pathway in adrenocortical development and cancer. Mol. Cell. Endocrinol. 2011, 332:32-37.
25. Kim A., et al. Targeted disruption of β-catenin in Sf1-expressing cells impairs development and maintenance of the adrenal cortex. Development 2008, 135:2593-2602.
26. Boulkroun S., et al. Aldosterone producing adenoma formation in the adrenal cortex involves expression of stem/progenitor cell markers. Endocrinology 2011, 152:4753-4763.
27. Scholl U.I., et al. Novel somatic mutations in primary hyperaldosteronism are related to the clinical, radiological and pathological phenotype. Clin. Endocrinol. 2015, Published online August 7, 2015. 10.1111/cen.12873.
28. Teo A.E., et al. Pregnancy, primary aldosteronism, adrenal CTNNB1 mutations. N. Engl. J. Med. 2015, 373:1429-1436.
29. Berthon A., et al. Constitutive beta-catenin activation induces adrenal hyperplasia and promotes adrenal cancer development. Hum. Mol. Genet. 2010, 19:1561-1576.
30. Berthon A., et al. WNT/β-catenin signalling is activated in aldosterone-producing adenomas and controls aldosterone production. Hum. Mol. Genet. 2014, 23:889-905.
31. Bonnet S., et al. Wnt/β-catenin pathway activation in adrenocortical adenomas is frequently due to somatic CTNNB1-activating mutations, which are associated with larger and nonsecreting tumors: a study in cortisol-secreting and -nonsecreting tumors. J. Clin. Endocrinol. Metab. 2011, 96:E419-E426.
32. Gaujoux S., et al. β-Catenin activation is associated with specific clinical and pathologic characteristics and a poor outcome in adrenocortical carcinoma. Clin. Cancer Res. 2011, 17:328-336.
33. Thiel A., et al. PRKACA mutations in cortisol-producing adenomas and adrenal hyperplasia: a single-center study of 60 cases. Eur. J. Endocrinol. 2015, 172:677-685.
34. Laufer E., et al. Sonic hedgehog signaling during adrenal development. Mol. Cell. Endocrinol. 2012, 351:19-27.
35. + channel) is expressed in glomerulosa cells of rat adrenal cortex and inhibited by angiotensin II. Mol. Endocrinol. 2000, 14:863-874.
36. Heitzmann D., et al. Invalidation of TASK1 potassium channels disrupts adrenal gland zonation and mineralocorticoid homeostasis. EMBO J. 2008, 27:179-187.
37. Davies L.A., et al. TASK channel deletion in mice causes primary aldosteronism. Proc. Natl. Acad. Sci. U.S.A. 2008, 105:2203-2208.
38. Guagliardo N.A., et al. TASK-3 channel deletion in mice recapitulates low-renin essential hypertension. Hypertension 2012, 59:999-1005.
39. Penton D., et al. Task3 potassium channel gene invalidation causes low renin and salt-sensitive arterial hypertension. Endocrinology 2012, 153:4740-4748.
40. El Wakil A., et al. Dkk3 is a component of the genetic circuitry regulating aldosterone biosynthesis in the adrenal cortex. Hum. Mol. Genet. 2012, 21:4922-4929.
41. Ganesh S.K., et al. Effects of long-term averaging of quantitative blood pressure traits on the detection of genetic associations. Am. J. Hum. Genet. 2014, 95:49-65.
42. Jung J., et al. Variations in the potassium channel genes KCNK3 and KCNK9 in relation to blood pressure and aldosterone production: an exploratory study. J. Clin. Endocrinol. Metab. 2012, 97:E2160-E2167.
43. Kato N., et al. Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation. Nat. Genet. 2015, 47:1282-1293.
44. + channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Science 2011, 331:768-772.
45. Fernandes-Rosa F.L., et al. Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma. Hypertension 2014, 64:354-361.
46. Taguchi R., et al. Expression and mutations of KCNJ5 mRNA in Japanese patients with aldosterone-producing adenomas. J. Clin. Endocrinol. Metab. 2012, 97:1311-1319.
47. Zheng F.F., et al. Clinical characteristics of somatic mutations in Chinese patients with aldosterone-producing adenoma. Hypertension 2015, 65:622-628.
48. Beuschlein F., et al. Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. Nat. Genet. 2013, 45:440-444.
49. Scholl U.I., et al. Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. Nat. Genet. 2013, 45:1050-1054.
50. Azizan E.A., et al. Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension. Nat. Genet. 2013, 45:1055-1060.
51. Scholl U.I., et al. Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism. Elife 2015, 4:e06315.
52. Oki K., et al. Potassium channel mutant KCNJ5 T158A expression in HAC-15 cells increases aldosterone synthesis. Endocrinology 2012, 153:1774-1782.
53. Scholl U.I., et al. Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5. Proc. Natl. Acad. Sci. U.S.A. 2015, 109:2533-2538.
54. Boulkroun S., et al. Adrenal cortex remodeling and functional zona glomerulosa hyperplasia in primary aldosteronism. Hypertension 2010, 56:885-892.
55. Dekkers T., et al. Adrenal nodularity and somatic mutations in primary aldosteronism: one node is the culprit?. J. Clin. Endocrinol. Metab. 2014, 99:E1341-E1351.
56. Fernandes-Rosa F.L., et al. Different somatic mutations in multinodular adrenals with aldosterone-producing adenoma. Hypertension 2015, 66:1014-1022.
57. Beuschlein F., et al. Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome. N. Engl. J. Med. 2014, 370:1019-1028.
58. Goh G., et al. Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors. Nat. Genet. 2014, 46:613-617.
59. Cao Y., et al. Activating hotspot L205R mutation in PRKACA and adrenal Cushing's syndrome. Science 2014, 344:913-917.
60. Sato Y., et al. Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome. Science 2014, 344:917-920.
61. Assié G., et al. ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome. N. Engl. J. Med. 2013, 369:2105-2114.
62. Zilbermint M., et al. Primary adosteronism and ARMC5 variants. J. Clin. Endocrinol. Metab. 2015, 100:E900-E909.
63. Nishimoto K., et al. Adrenocortical zonation in humans under normal and pathological conditions. J. Clin. Endocrinol. Metab. 2010, 95:2296-2305.
64. Gomez-Sanchez C.E., et al. Development of monoclonal antibodies against human CYP11B1 and CYP11B2. Mol. Cell. Endocrinol. 2014, 383:111-117.
65. Nakamura Y., et al. Adrenal CYP11B1/2 expression in primary aldosteronism: immunohistochemical analysis using novel monoclonal antibodies. Mol. Cell. Endocrinol. 2014, 392:73-79.
66. Nishimoto K., et al. Aldosterone-stimulating somatic gene mutations are common in normal adrenal glands. Proc. Natl. Acad. Sci. U.S.A. 2015, 112:E4591-E4599.
67. Omata, K. et al. (2015) Aldosterone-stimulating somatic mutations are common in normal Japanese adrenal glands. Presented at the 5th International Adrenal Cancer Symposium, Ann Arbor (MI), 14-15 October, 2015, Global Science/Humanistic Solutions.
68. Lefèvre L., et al. Combined transcriptome studies identify AFF3 as a mediator of the oncogenic effects of β-catenin in adrenocortical carcinoma. Oncogenesis 2015, 4:e161.
69. Shaikh L.H., et al. LGR5 activates non-canonical Wnt-signaling and inhibits aldosterone production in the human adrenal. J. Clin. Endocrinol. Metab. 2015, 100:E836-E844.
70. Vaidya A., et al. Abnormal aldosterone physiology and cardiometabolic risk factors. Hypertension 2013, 61:886-893.
71. Brown J.M., et al. Aldosterone dysregulation with aging predicts renal vascular function and cardiovascular risk. Hypertension 2014, 63:1205-1211.
72. Bandulik S., et al. Two-pore domain potassium channels in the adrenal cortex. Pflügers Arch. 2015, 467:1027-1042.
73. Tauber P., et al. Pharmacology and pathophysiology of mutated KCNJ5 found in adrenal aldosterone-producing adenomas. Endocrinology 2014, 155:353-362.