Inherited Disorders and Gene Regulation of Platelet Signal Transduction: The Picture Is Expanding

Paolo Gresele; Emanuela Falcinelli

doi:10.1055/s-0037-1616124

Thrombosis and Haemostasis, Inhaltsverzeichnis

Thromb Haemost 2001; 86(03): 728-730
DOI: 10.1055/s-0037-1616124

Commentary

Schattauer GmbH

Inherited Disorders and Gene Regulation of Platelet Signal Transduction: The Picture Is Expanding

Paolo Gresele

¹Division of Internal and Cardiovascular Medicine, Department of Internal Medicine, University of Perugia, Italy

,

Emanuela Falcinelli

¹Division of Internal and Cardiovascular Medicine, Department of Internal Medicine, University of Perugia, Italy

References
1 Nurden AT. Inherited abnormalities of platelets. Thromb Haemost 1999; 82: 468-80.
2 Gabbeta J, Yang X, Kowaliska MA, Sun C, Dhanasekaran N, Rao AK. Platelet signal transduction defect with Gα subunit dysfunction and diminished G q in a patient with abnormal platelet responses. Proc Natl Acad Sci USA 1997; 94: 8750-5.
3 Lee SB, Rao AK, Lee K-H, Bae YS, Rhee SG. Decreased expression of phospholipase C-β2 isozyme in human platelets with impaired function. Blood 1993; 88: 1684-91.
4 Yang X, Sun L, Gabbeta J, Rao AK. Platelet activation with combination of ionophore A23187 and a direct protein kinase C activator induces normal secretion in patients with impaired receptor mediated secretion and abnormal signal transduction. Thromb Res 1997; 88: 317-28.
5 Oury C, Toth-Zsamboki E, Van Geet C, Thys C, Wei L, Nilius B, Vermylen J, Hoylaerts M. A natural dominant negative P2X1 receptor due to deletion of a single amino acid residue. J Biol Chem 2000; 275: 22611-4.
6 Offermanns S. In vivo functions of heterotrimeric G-proteins: studies in g alpha-deficient mice. Oncogene 2001; 20: 1635-42.
7 Ostrom RS, Post SR, Insel PA. Stoichiometry and compartmentation in G-protein-coupled receptor signalling: implications for therapeutic interventions involving G(s). J Pharmacol Exp Ther 2000; 294: 407-12.
8 Spiegel AM. The molecular basis of disorders caused by defects in G proteins. Horm Res 1997; 47: 89-96.
9 Ushikubi F, Ishibashi T, Narumiya S, Okuma M. Analysis of the defective signal transduction mechanism through the platelet thrombaxe A2 receptor in a patient with polycythemia vera. Thromb Haemost 1992; 67: 144-6.
10 Mitchell PB, Manji HK, Chen G, Jolkovsky L, Smith-Jackson E, Denicoff K, Schmidt M, Potter WZ. High levels of Gs alpha in platelets of euthymic patients with bipolar affective disorder. Am J Psychiatry 1997; 154: 218-23.
11 Mooney JJ, Samson JA, McHale NL, Colodzin R, Alpert J, Koutsos M, Schildkraut JJ. Signal transduction by platelet adenylate cyclase: alterations in depressed patients may reflect impairment in the coordinated integration of cellular signals. Biol Psychiatry 1998; 43: 574-83.
12 Garcia-Sevilla JA, Walzer C, Busquets X, Escriba PV, Balant L, Guimon J. Density of guanine nucleotide-binding proteins in platelets of patients with depression: increased abundance of the G alpha i2 subunit and down-regulation by antidepressant drug treatment. Biol Psychiatry 1997; 42: 704-12.
13 Marcil J, Schiffrin EL, Anand-Srivastava MB. Aberrant Adenylyl cyclase/ cAMP signal transduction and G protein levels in platelets from patients improve with antihypertensive drug therapy. Hypertension 1996; 28: 83-90.
14 Von Beckerath N, Kastrati A, Koch W, Bottiger C, Mehilli J, Sseyfarth M, Shoming A. G protein beta3 subunit polymorphism and risk of thrombosis and restenosis following coronary stent placement. Atherosclerosis 2000; 149: 151-5.
15 Ishikawa K, Imai Y, Katsuya T, Ohkubo T, Tsuji I, Nagai K, Takami S, Nakata Y, Satoh H, Hisamichi S, Higaki J, Ogihara T. Human G-protein beta3 subunit variant is associated with serum potassium and total cholesterol levels but not with blood pressure. Am J Hypertens 2000; 13: 140-5.
16 Morrison AC, Doris PA, Folson AR, Nieto FJ, Boerwinkle E. G beta3 subunit and alpha adducin polymorphisms and risk of subclinical stroke. Stroke 2001; 32: 822-9.
17 Hengstenberg C, Shunkert H, Mayer B, Doring A, Lowel H, Hense HW, Fisher M, Riegger GA, Holmer SR. Association between a polymorphism the G-protein beta3 subunit gene (GNB3) with arterial hypertension but not with myocardial infarction. Cardiovasc Res 2001; 49: 820-7.
18 Zychma M, Zukoska-Szczechowsha E, Ossowska-Saymkowicz I, Trautsolt W, Grzeszcrak W. G-protein beta (3) subunit C 825T variant, nephropathy and hypertension in patients with type 2 (non-insulin-dependent) diabetes mellitus. Am J Nephrol 2000; 20: 305-10.
19 Naber C, Hermann BL, Vietzke D, Altmann C, Haude M, Mann K, Rosskopf D, Siffert W. Enhanced epinephrine-induced platelet aggregation in individuals carrying the G protein beta3 subunit 825T allele. FEBS Lett 2000; 484: 199-201.
20 Freson K, Hoylaerts MF, Jaeken J, Eyssen M, Arnout J, Vermylen J, van Geet C. Genetic variation of the extra-large stimulatory G protein α-subunit leads to Gs hyperfunction in platelets and is a risk factor for bleeding. Thromb Haemost 2001; 86: 733-8.
21 Borlow DP. Gametic imprinting in mammals. Science 1995; 270: 1610-3.
22 Reik W, Walter J. Genomic imprinting: parental influence on the genome. Nat Rev Genet 2001; 2: 21-32.
23 Hanel ML, Weurick R. The role of genomic imprinting in human developmental disorders: lessons from Prader-Willi syndrome. Genet 2001; 59: 156-64.
24 Hermann R, Lauhe AP, Joansson C, Niederland T, Toharska L, Dziatkowiak H, Ilonen J, Soltesz G. Transient but not permanent neonatal diabetes mellitus is associated with paternal uniparental isodisomy of chromosome 6. Pediatrics 2000; 105: 49-52.
25 Yoshihashi H, Maeyama K, Kosaki R, Ogata T, Tsukahara M, Goto Y, Hata J, Matsuo N, Smith RJ, Kosaki K. Imprinting of human GRB10 and its mutations in two patients with Russel-Silver syndrome. Am J Hum Genet 2000; 67: 476-82.
26 Hayward BE, Barlier A, Kosbonits M, Grossman AB, Jacquet P, Enjalbert A, Bonthron DT. Imprinting of the G s alpha gene GNAS1 in the pathogenesis of acromegaly. J Clin Invest 2001; 107: R31-6.
27 Gresele P, Blockmans D, Deckmyn H, Vermylen J. Adenylate cyclase activation determines the effect of thromboxane synthase inhibitors on platelet aggregation in vitro. Comparison of platelets from responders and nonresponders. J Pharmacol Exp Ther 1988; 246: 301-7.
28 de Gaetano G, Cerletti C. Pharmacogenetic: New anti-platelet strategies. Ital Heart J 2001; 2: 7-9.