Molecular genetics of hyperparathyroid disease

Current Opinion in Nephrology and Hypertension

Volumn 5, Issue 4, 1996, Pages 336-341

  Tominaga, Yoshihiro ^a,b   Takagi, Hiroshi ^a  

^a NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NAGOYA DAINI RED CROSS HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; CYCLINE; DNA; PARATHYROID HORMONE;

CARCINOGENESIS; CELL CYCLE; CHRONIC KIDNEY FAILURE; HUMAN; HYPERCALCEMIA; HYPERPARATHYROIDISM; HYPOCALCIURIA; MOLECULAR GENETICS; MULTIPLE ENDOCRINE NEOPLASIA; PARATHYROID ADENOMA; PARATHYROID CARCINOMA; PARATHYROID HYPERPLASIA; POINT MUTATION; PRIMARY HYPERPARATHYROIDISM; PRIORITY JOURNAL; RECEPTOR GENE; REVIEW; SECONDARY HYPERPARATHYROIDISM;

ADENOMA; ANIMALS; CARCINOMA; CELL CYCLE; CHROMOSOME MAPPING; HUMANS; HYPERCALCEMIA; HYPERPARATHYROIDISM; INFANT, NEWBORN; KIDNEY FAILURE, CHRONIC; MULTIPLE ENDOCRINE NEOPLASIA TYPE 1; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; PARATHYROID GLANDS; PARATHYROID NEOPLASMS; POINT MUTATION;

EID: 0029950035     PISSN: 10624821     EISSN: None     Source Type: Journal    
DOI: 10.1097/00041552-199607000-00008     Document Type: Review

References (55)

1. 2+-sensing receptor from bovine parathyroid. Nature 1993, 366:575-580.
2. Garrett JE, Capuano IV, Hammerland LG, Hung BCP, Brown EM, Hebert SC, Nemeth EF, Fuller F: Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs. J Biol Chem 1995, 270:12919-12925.
3. 2+-sensing receptor. Am J Kidney Dis 1995, 25:506-513. This review describes recent information about the mechanism through which parathyroid cells recognize and respond to changes in extracellular calcium concentration.
4. Pollak MR, Brown EM, Wu Chou YH, Hebert SC, Marx SJ, Steinmann B, Levi T, Seidman CE, Seidman JG: Mutations in the human Ca-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 1993, 75:1297-1303.
5. 2+-sensing-receptor gene that cause familial hypocalciuric hypercalcemia. Am J Hum Genet 1995, 58:1075-1079.
6. 2+-sensing receptor gene mutation. Nat Genet 1994, 8:303-307.
7. Morrison NA, Qi JC, Tokita A, Kelly P, Crofts L, Nguyen TV, Sambrook PN, Eisman JA: Prediction of bone density by vitamin D receptor allele. Nature 1994, 367:284-287.
8. 3 receptors in peripheral blood mononuclear cells from patients with primary and secondary hyperparathyroidism. Bone Miner 1994, 27:25-32.
9. Carling T, Kindmark A, Hellman P, Lundgren E, Ljunghall S, Rastad J, Akerstrom G, Melhus H: Vitamin D receptor genotypes in primary hyperparathyroidism. Nat Med 1995, 1:1309-1311. This paper reported that the VDR genotype bb was present with an abnormally high frequency in postmenopausal women with primary hyperparathyroidism.
10. Volgelstein B, Fearon ER, Hamilton SR, Feinberg AP: Use of restriction fragment length polymorphism to determine the clonal origin of human tumors. Science 1985, 227:642-645.
11. Gilliland DG, Blanchard KL, Levy J, Perrin S, Bunn HF: Clonality in myeloproliferative disorders: analysis by means of polymerase chain reaction. Proc Natl Acad Sci USA 1991, 88:6848-6852.
12. Arnold A, Staunton CE, Kim HG, Gaz RD, Kronenberg HM: Monoclonality and abnormal parathyroid hormone gene in parathyroid adenomas. N Engl J Med 1988, 318:658-662.
13. Noguchi S, Motomura K, Inaji H, Imaoka S, Koyama H: Clonal analysis of parathyroid adenomas by means of the polymerase chain reaction. Cancer Lett 1994, 78:93-97.
14. Muller H, Lukas J, Schneider A, Warthoe P, Bartek J, Eilers M, Strauss M: Cyclin D1 expression is regulated by the retinoblastoma protein. Proc Natl Acad Sci USA 1994, 91:2945-2949.
15. Hirama T, Koeffler P: Role of the cyclin-dependent kinase inhibitors in the development of cancer. Blood 1995, 86:841-854.
16. Nishida N, Fukuda Y, Komeda T, Kita R, Sando T, Furukawa M, Amenomori M, Shibagaki I, Nakao K, Ikenaga M, Ishizaki K: Amplification and overexpression of cyclin D1 gene in aggressive human hepatocellular carcinoma. Cancer Res 1994, 54:3107-3110.
17. Sutherland R, Watts CKW, Musgrove A: Cyclin gene expression and growth control in normal and neoplastic human breast epithelium. J Steroid Biochem Mol Biol 1993, 47:99-101.
18. Arnold A: Molecular mechanism of parathyroid neoplasia. Endocrinol Metab Clin North Am 1994, 23:93-107.
19. Bassett JHD, Thakker RV: Molecular genetics of disorders of calcium homeostasis. Baillieres Clin Endocrinol Metab 1995, 9:581-607. This review presents advances in molecular genetics of calcium homeostasis, including both hyperparathyroidsim and hypoparathyroidism.
20. Larsson C, Skogseid B, Oberg K, Nakamura Y, Norden-Skjold M: Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma. Nature 1988, 332:85-87.
21. Friedman E, Sakaguchi K, Bale AE, Falghetti A, Streeten E, Zimering MB, Weinstein LE, McBride WO, Nakamura Y, Brandi ML et al.: Clonality of parathyroid tumors in familial multiple endocrine neoplasia type 1. N Engl J Med 1989, 321:213-218.
22. Thakker RV, Bouloux P, Wooding C, Chotai K, Broad PM, Spurr NK, Besser GM, O'Riordan JLH: Association of parathyroid tumors in multiple endocrine neoplasia type 1 with loss of alleles on chromosome 11. N Engl J Med 1989, 321:218-224.
23. Knudson AG: Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 1971, 68:820-823.
24. Larsson C, Calender A, Grimmond S, Giraud S, Hayward NK, Teh B, Farnebo F: Molecular tools for presymptomatic testing in multiple endocrine neoplasia type 1. J Intern Med 1995, 238:239-244. This workshop session exhibited molecular tools for pre-clinical diagnosis in MEN 1-affected families
25. Gagel RF: Putting the bits and pieces of the RET proto-oncogene puzzle together. Bone 1995, 17(suppl):13S-16S.
26. Mulligan LM, Eng C, Healey C, Clayton D, Kwok JBJ, Gardener E, Ponder MA, Frilling A, Jackson CE, Lehnert H et al.: Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet 1994, 6:70-74.
27. Inoue H, Miki H, Oshima K, Tanaka K, Monden Y, Yamamoto A, Kagawa S, Sano N, Hayashi E, Nagayama M, Hayashi Y: Familial hyperparathyroidism associated with jaw fibroma: case report and literature review. Clin Endocrinol 1995, 43:225-229.
28. Szabo J, Heath B, Hill VM: Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-31. Am J Hum Genet 1995, 56:944-950.
29. Chou YHW, Brown EM, Levin T: The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families. Nat Genet 1992, 1:3-6.
30. Thompson DB, Samowitz WS, Oldelberg S, Davis RK, Szabo J, Heath H III: Genetic abnormalities in sporadic parathyroid adenomas: loss of heterozygosity for chromosome 3q markers flanking the calcium receptor locus. J Clin Endocrinol Metab 1995, 80:3377-3380. The authors found a loss of heterozygosity for the calcium-sensing receptor gene locus in 10% of sporadic parathyroid adenomas.
31. Hosokawa Y, Pollak MR, Brown EM, Arnold A: The extracellular calcium-sensing receptor gene in human parathyroid tumors. J Clin Endocrinol Metab 1995, 80:3107-3110. The authors reported that no somatic mutations of the calcium-sensing receptor gene were detected in sporadic parathyroid tumours, including secondary hyperparathyroidism.
32. Arnold A, Kim HG: Clonal loss of one chromosome 11 in a parathyroid adenoma. J Clin Endocrinol Metab 1989, 69:496-499.
33. Bystrom C, Larsson C, Blomberg C, Sandelin K, Falkmer U, Skogseid B, Oberg K, Werner S, Nordenskjold M: Localization of the MEN 1 gene to small region within chromosome 11q13 by deletion mapping in tumors. Proc Natl Acad Sci USA 1990, 87:1968-1990.
34. Arnold A, Brown MF, Urena P, Gaz RD, Sarfati E, Drueke TB: Monoclonality of parathyroid tumors in chronic renal failure and primary parathyroid hyperplasia. J Clin Invest 1995, 95:2047-2053. This paper shows that approximately 64% patients who required parathyroidectomy for renal hyperparathyroidism had at least one monoclonal hyperplastic parathyroid gland, whereas in 34% of patients with sporadic primary parathyroid hyperplasia the hyperplastic glands were monoclonal.
35. Arnold A, Kim HG, Gaz RD, Eddy RL, Fukushima Y, Byers M, Showas TB, Kronenberg HM: Molecular cloning and chromosomal mapping of DNA rearranged with the parathyroid hormone gene in a parathyroid adenoma. J Clin Invest 1989, 3:2034-2040.
36. Rosenberg CL, Kim HG, Shows TB, Kronenberg HM, Arnold A: Rearrangement and overexpression of D11S287E, a candidate oncogene on chromosome 11q13 in benign parathyroid tumors. Oncogene 1991, 6:449-453.
37. Cryns VL, Thor A, Xu HJ, Hu SX, Wierman ME, Vickery AL, Benedict WF, Arnold A: Loss of the retinoblastoma tumor-suppressor gene in parathyroid carcinoma. N Engl J Med 1994, 330:757-761.
38. Churchill ME, Gemmel MA, Woloschak GE: Detection of retinoblastoma gene deletions in spontaneous and radiation-induced mouse lung adenocarcinomas by polymerase chain reaction. Radiat Res 1994, 137:310-316.
39. Holm R, Nesland JM: Retinoblastoma and p53 tumour suppressor gene protein expression in carcinomas of the thyroid gland. J Pathol 1994, 172:267-272.
40. Cryns VL, Rubio MP, Thor AD, Louis DN, Arnold A: p53 Abnormalities in human parathyroid carcinoma. J Clin Endocrinol Metab 1994, 78:1320-1324.
41. Hakim JP, Levine MA: Absence of p53 point mutations in parathyroid adenoma and carcinoma. J Clin Endocrinol Metab 1994, 78:103-106.
42. Parfitt AM: Parathyroid growth. In The parathyroids. Edited by Bilezikian JP, Levine MA, Marcus R. New York: Raven Press; 1993:373-405.
43. Naveh-Many T, Rahamimov R, Silver J: Parathyroid cell proliferation in normal and chronic renal failure rats. J Clin Invest 1995, 96:1786-1793. This paper emphasizes the importance of normal phosphate and calcium levels in the prevention of parathyroid cell hyperplasia.
44. Yi H, Fukagawa M, Yamamoto H, Kumagai M, Watanabe T, Kurokawa K: Prevention of enhanced parathyroid hormone secretion, synthesis and hyperplasia by mild dietary phosphorus retention in early chronic renal failure in rats: possible direct role of phosphorus. Nephron 1995, 70:242-248. An interesting study that elucidated the role of phosphate retention for the prevention of renal hyperparathyroidism in a rat model.
45. Tominaga Y, Tanaka Y, Sato K, Numano M, Uchida K, Falkmer U, Grimelius L, Johansson H, Takagi H: Recurrent renal hyperparathyroidism and DNA analysis of autografted parathyroid tissue. World J Surg 1992, 16:595-603.
46. Tominaga Y, Sato K, Tanaka Y, Numano M, Uchida K, Takagi H: Histopathology and pathophysiology of secondary hyperparathyroidism due to chronic renal failure. Clin Nephrol 1995, 44(suppl):S42-S47. Using specimens removed during surgery, characteristic findings of histopathology and pathophysiological abnormalities during PTH synthesis, PTH secretion and proliferation of parathyroid cells in advanced renal hyperparathyroidism were presented.
47. 3 receptor density is associated with more severe form of parathyroid hyperplasia in chronic uremic patients. J Clin Invest 1993, 92:1436-1443.
48. Tominaga Y, Namii Y, Haba T, Uchida K, Numano H, Tanaka Y, Takagi H: Monoclonal proliferation of nodules in parathyroid hyperplasia due to chronic renal failure [Abstract]. J Am Soc Nephrol 1995, (suppl):972.
49. Tominaga Y, Kohara S, Namii Y, Nagasaka T, Haba T, Uchida K, Numano M, Tanaka Y, Takagi H: Clonal analysis of nodular parathyroid hyperplasia in renal hyperparathyroidism. World J Surg 1996 (in press).
50. Falchetti A, Bale AE, Amorosi A, Bordi C, Cicchi P, Bandini S, Marx SJ, Brandi ML: Progression of uremic hyperparathyroidism involves allelic loss on chromosome 11. J Clin Endocrinol Metab 1993, 76:139-144.
51. Biancni S, Fabiani S, Muratori M, Arnold A, Sakaguchi K, Miki T, Brandi ML: Calcium moderates the cyclin D1 expression in a rat parathyroid cell line. Biochem Biophys Res Commun 1994, 204:691-700.
52. Tominaga Y, Numano M, Uchida K, Sato K, Asano H, Haba T, Katayama A, Mukoyama A, Suzuki K, Tanaka Y, Takagi H: Lung metastasis from parathyroid carcinoma causing recurrent renal hyperparathyroidism in hemodialysis patients: report of a case. Surg Today 1995, 25:984-986.
53. Tominaga Y, Numano M, Uchida K, Katayama A, Haba T, Asano H, Sato K, Tanaka Y, Takagi H: Parathyroidectomy for patients with renal hyperparathyroidism refractory to calcitriol pulse therapy. J Bone Miner Metab 1994, 12(suppl 1):S99-S104.
54. Fukagawa M, Kitaoka M, Yi H, Fukuda N, Ogata E, Kurokawa K: Serial evaluation of parathyroid size by ultrasonography is another useful marker for the long-term prognosis of calcitriol pulse therapy in chronic dialysis patient. Nephron 1994, 68:221-228.
55. Tominaga Y, Sato K, Numano M, Tanaka Y, Takagi H: Surgical treatment of renal hyperparathyroidism. Asian J Surg 1994, 17:121-126.