Premature coronary artery disease associated with a disruptive mutation in the estrogen receptor gene in a man

Circulation

Volumn 96, Issue 10, 1997, Pages 3774-3777

  Sudhir, Krishnankutty ^a,b   Chou, Tony M ^a,b   Chatterjee, Kanu ^a,b   Smith, Eric P ^c   Williams, Timothy C ^d   Kane, John P ^b   Malloy, Mary J ^b   Korach, Kenneth S ^e   Rubanyi, Gabor M ^f  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c Children's Hospital Medical Center   (United States)

^d UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^e NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES   (United States)

^f BAYER AG   (Germany)

Author keywords

Coronary disease; Estrogen; Men

Indexed keywords

APOLIPOPROTEIN; ESTROGEN RECEPTOR; HIGH DENSITY LIPOPROTEIN; LIPOPROTEIN; LOW DENSITY LIPOPROTEIN;

ADULT; BONE MINERAL; CARDIOVASCULAR FUNCTION; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; CORONARY ARTERY DISEASE; DISEASE ASSOCIATION; GENE EXPRESSION; GENE MUTATION; HUMAN; MALE; PRIORITY JOURNAL; PROTEIN ANALYSIS; RECEPTOR GENE; REVIEW; RISK FACTOR;

EID: 0030815423     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.CIR.96.10.3774     Document Type: Review

References (33)

1. Barrett-Connor E, Bush TL. Estrogen and coronary heart disease in women. JAMA. 1991;265:1861-1867.
2. Ingegno MD, Money SR, Thelmo W, Greene GL, Davidian M, Jaffe BM, Pertschuk LP. Progesterone receptors in the human heart and great vessels. Lab Invest. 1988;59:353-356.
3. Karas RH, Patterson BL, Mendelsohn ME. Human vascular smooth muscle cells contain functional estrogen receptor. Circulation. 1994;89:1943-1950.
4. Losordo DW, Kearney M, Kim EA, Jekanowski J, Isner JM. Variable expression of the estrogen receptor in normal and atherosclerotic coronary arteries of premenopausal women. Circulation. 1994;89:1501-1510.
5. Venkov CD, Rankin AB, Vaughan DE. Identification of authentic estrogen receptor in cultured endothelial cells: a potential mechanism for steroid hormone regulation of endothelial function. Circulation. 1996;94:727-733.
6. Jiang CW, Sarrel PM, Lindsay DC, Poole WP, Collins P. Endothelium-independent relaxation of rabbit coronary artery by 17 beta-oestradiol in vitro. Br J Pharmacol. 1991;104:1033-1037.
7. Sudhir K, Chou TM, Mullen WL, Hausmann D, Collins P, Yock PG, Chatterjee K. Mechanisms of estrogen-induced vasodilation: in vivo studies in canine coronary conductance and resistance arteries. J Am Coll Cardiol. 1995;26:807-814.
8. Reis SE, Gloth ST, Blumenthal RS, Resar JR, Zacur HA, Gerstenblith G, Brinker JA. Ethinyl estradiol acutely attenuates abnormal coronary vasomotor responses to acetylcholine in postmenopausal women. Circulation. 1994;89:52-60.
9. 17β-Estradiol attenuates acetylcholine-induced coronary arterial constriction in woimen but not men with coronary heart disease. Circulation. 1995;92:24-30.
10. Lieberman EH, Gerhard MD, Uehata A, Walsh BW, Selwyn AP, Ganz P, Yeung AC, Creager MA. Estrogen improves endothelium-dependent, flow-mediated vasodilation in postmenopausal women. Ann Intern Med. 1994;121:936-941.
11. Sudhir K, Jennings G, Funder J, Komesaroff P. Estrogen enhances basal nitric oxide release in the forearm vasculature in perimenopausal women. Hypertension. 1996;28:330-334.
12. Blumenthal R, Gloth S, Reis S, Heldman A, Resar J, Coombs V, Gerstenblith G, Brinker J. Acute administration of estrogen improves coronary vasomotor response to acetylcholine in men. J Am Coll Cardiol. 1996;27(suppl A):287A. Abstract.
13. Reis S, Wu C, Counihan P, Conrad Smith A. Estrogen has an acute beneficial effect on coronary vasoreactivity in men. Circulation. 1995;92(suppl I):I-249. Abstract.
14. Bagatell CJ, Knopp RH, Rivier JE, Bremner WJ. Physiological levels of estradiol stimulate plasma high density lipoprotein(2) cholesterol levels in normal men. J Clin Endocrinol Metab. 1994;78: 855-861.
15. Morishima A, Grumbach MM, Simpson ER, Fisher C, Qin K. Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. J Clin Endocrinol Metab. 1995;80:3689-3698.
16. Smith EP, Boyd J, Frank GR, Takahashi H, Cohen RM, Specker B, Williams TC, Lubahn DB, Korach KS. Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man. N Engl J Med. 1994;331:1056-1061. Comments.
17. Freay A, Korach K, Lubahn D, Rubanyi G. Decreased endothelial nitric oxide production and increased smooth muscle reactivity to KCl in aortae of estrogen-receptor knockout mice. Circulation. 1995;92(suppl I):I-106. Abstract.
18. Pullinger CR, Zysow BR, Hennessy LK, Frost PH, Malloy MJ, Kane JP. Molecular cloning and characteristics of a new apolipoprotein C-II mutant identified in three unrelated individuals with hypercholesterolemia and hypertriglyceridemia. Hum Mol Genet. 1993;2:69-74.
19. Kunitake S, O'Connor P, Naya-Vigne J. Heterogeneity of high-density lipoproteins and apolipoprotein A-I as related to quantification of apolipoprotein A-I. Methods Enzymol. 1996;263:260-266.
20. Agatston AS, Janowitz WR, Hildner FJ, Zusmer NR, Viamonte MJ, Detrano R. Quantification of coronary artery calcium using ultrafast computed tomography. J Am Coll Cardiol. 1990;15: 827-832.
21. Davies M. The pathology of coronary atherosclerosis. In: Schlant RG, Alexander RW, eds. The Heart. New York, NY: McGraw Hill Inc; 1994:1009-1020.
22. Demer LL. Lipid hypothesis of cardiovascular calcification. Circulation. 1997;95:297-298. Editorial.
23. Sarig S, Weiss TA, Katz I, Kahana F, Azoury R, Okon E, Kruth HS. Detection of cholesterol associated with calcium mineral using confocal fluorescence microscopy. Lab Invest. 1994;71:782-787.
24. Arad Y, Spadaro L, Goodman K, LLedo-Perez A, Sherman S, Lerner G, Guerci A. Predictive value of electron beam computed tomography of the coronary arteries: 19-month follow-up of 1173 asymptomatic subjects. Circulation. 1996;93:1951-1953.
25. Randomised comparison of oestrogen versus oestrogen plus progestogen hormone replacement therapy in women with hysterectomy: Medical Research Council's General Practice Research Framework. BMJ. 1996;312:473-478.
26. Pacchioni D, Papotti M, Andorno E, Bonino F, Mondardini A, Oliveri F, Brunetto M, Bussolati G, Negro F. Expression of estrogen receptor mRNA in tumorous and non-tumorous liver tissue as detected by in situ hybridization. J Surg Oncol Suppl. 1993;3:14-17.
27. Brinton EA. Oral estrogen replacement therapy in postmenopausal women selectively raises levels and production rates of lipoprotein A-I and lowers hepatic lipase activity without lowering the fractional catabolic rate. Arterioscler Thromb Vasc Biol. 1996;16: 431-440.
28. Meriggiola MC, Marcovina S, Paulsen CA, Bremner WJ. Testosterone enanthate at a dose of 200 mg/week decreases HDL-cholesterol levels in healthy men. Int J Androl. 1995;18:237-242.
29. Fielding CJ, Fielding PE. Molecular physiology of reverse cholesterol transport. J Lipid Res. 1995;36:211-228.
30. Kunitake ST, Mendel CM, Hennessy LK. Interconversion between apolipoprotein A-I-containing lipoproteins of pre-beta and alpha electrophoretic mobilities. J Lipid Res. 1992;33:1807-1816.
31. Kuiper GG, Enmark E, Pelto HM, Nilsson S, Gustafsson JA. Cloning of a novel receptor expressed in rat prostate and ovary. Proc Natl Acad Sci U S A. 1996;93:5925-5930.
32. Kunitake ST, Jarvis MR, Hamilton RL, Kane JP. Binding of transition metals by apolipoprotein A-I-containing plasma lipoproteins: inhibition of oxidation of low density lipoproteins. Proc Natl Acad Sci U S A. 1992;89:6993-6997.
33. Sudhir K, Chou TM, Messina LM, Hutchison SJ, Korach KS, Chatterjee K, Rubanyi GM. Endothelial dysfunction in a man with disruptive mutation in oestrogen-receptor gene. Lancet. 1997;349: 1146-1147. Letters.