Genetic abnormalities of the endothelium

Endothelial cell dysfunction plays an important role in the development and progression of cardiovascular and other disease. The purpose of this review is to discuss some of the genetic diseases known to adversely affect endothelial function. Although the list is exhaustive, we focus our discussion on primary pulmonary hypertension, diabetes mellitus, Alzheimer's disease, Crohn's disease, Von‐Hippel‐Lindau disease, familial Mediterranean fever, thrombotic microangiopathy, and key vascular malformations. Endothelial dysfunction results from a complex interplay between genetic and environmental factors. This review highlights some of the growing body of evidence implicating endothelial dysfunction as an important mediator of diverse diseases. Microsc. Res. Tech. 60:30–37, 2003. © 2002 Wiley‐Liss, Inc.

[1]  W. Seeger,et al.  Cellular pathophysiology and therapy of pulmonary hypertension. , 2001, The Journal of laboratory and clinical medicine.

[2]  K. Camphausen,et al.  In vivo retinal gene expression in early diabetes. , 2001, Investigative ophthalmology & visual science.

[3]  R. Ewert,et al.  Big endothelin-1 and endothelin-1 plasma levels are correlated with the severity of primary pulmonary hypertension. , 2001, Chest.

[4]  Lars Bertram,et al.  New Frontiers in Alzheimer's Disease Genetics , 2001, Neuron.

[5]  J. Genest,et al.  High-Density Lipoproteins and Endothelial Function , 2001, Circulation.

[6]  R. Hegele,et al.  Genetic determinants of type 2 diabetes mellitus , 2001, Clinical genetics.

[7]  S. Verma,et al.  Insulin Action in the Vasculature: Physiology and Pathophysiology , 2001, Journal of Vascular Research.

[8]  K. Furuya,et al.  Serum angiotensin I—converting enzyme is reduced in Crohn's disease and ulcerative colitis irrespective of genotype , 2001, American Journal of Gastroenterology.

[9]  T. Raife,et al.  New aspects in the pathogenesis and treatment of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome. , 2001, Reviews in clinical and experimental hematology.

[10]  N. Voelkel,et al.  The pathobiology of pulmonary hypertension. Endothelium. , 2001, Clinics in chest medicine.

[11]  M. Inaba,et al.  Relations between ACE gene and ecNOS gene polymorphisms and resistive index in type 2 diabetic patients with nephropathy. , 2001, Diabetes care.

[12]  M. Humbert,et al.  Pathobiology of pulmonary hypertension. The role of platelets and thrombosis. , 2001, Clinics in chest medicine.

[13]  J. Deanfield,et al.  Functions of the healthy endothelium. , 2001, Coronary artery disease.

[14]  Jeffrey I. Weitz,et al.  Characterization of a Mouse Model for Thrombomodulin Deficiency , 2001, Arteriosclerosis, thrombosis, and vascular biology.

[15]  J. Rhodin,et al.  A Vascular Connection to Alzheimer's Disease , 2001, Microcirculation.

[16]  Peter Libby,et al.  Current Concepts of the Pathogenesis of the Acute Coronary Syndromes , 2001, Circulation.

[17]  Isabelle Touitou,et al.  The spectrum of Familial Mediterranean Fever (FMF) mutations , 2001, European Journal of Human Genetics.

[18]  E. Arikawa,et al.  Long-term endothelin receptor blockade improves cardiovascular function in diabetes. , 2001, American journal of hypertension.

[19]  Ş. Kirazlı,et al.  Plasma fibronectin- and thrombospondin-adhesive molecules during acute attacks and attack-free periods of familial Mediterranean fever , 2001, Rheumatology International.

[20]  K. Mather,et al.  Improved endothelial function with metformin in type 2 diabetes mellitus. , 2001, Journal of the American College of Cardiology.

[21]  A. Patruno,et al.  Endothelial nitric oxide synthase (eNOS) expression and localization in healthy and diabetic rat hearts. , 2001, Annals of clinical and laboratory science.

[22]  G. Murty,et al.  Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): otorhinolaryngological manifestations. , 2001, Clinical otolaryngology and allied sciences.

[23]  E. Arikawa,et al.  Chronic bosentan treatment improves renal artery vascular function in diabetes , 2001, Journal of hypertension.

[24]  W. Kaelin,et al.  The von Hippel-Lindau tumor suppressor gene. , 2001, Experimental cell research.

[25]  H. Hodgson,et al.  Vascular malformations of the gastrointestinal tract. , 2001, Best practice & research. Clinical gastroenterology.

[26]  S. Rich,et al.  Primary pulmonary hypertension: a vascular biology and translational research "Work in progress". , 2000, Circulation.

[27]  R. Trembath,et al.  Heterozygous germline mutations in BMPR2, encoding a TGF-β receptor, cause familial primary pulmonary hypertension , 2000, Nature Genetics.

[28]  A M Zeiher,et al.  Prognostic impact of coronary vasodilator dysfunction on adverse long-term outcome of coronary heart disease. , 2000, Circulation.

[29]  A. Harris.  von Hippel-Lindau syndrome: target for anti-vascular endothelial growth factor (VEGF) receptor therapy. , 2000, The oncologist.

[30]  S. Higano,et al.  Long-term follow-up of patients with mild coronary artery disease and endothelial dysfunction. , 2000, Circulation.

[31]  G. Breen,et al.  Association between Alzheimer's disease and the NOS3 gene , 1999, Annals of neurology.

[32]  A. Burden,et al.  HbA1c local reference ranges: Effects of age, sex and ethnicity , 1999 .

[33]  V. Gahtan,et al.  Localization of atherosclerosis: role of hemodynamics. , 1999, Archives of surgery.

[34]  H. Yazıcı,et al.  Serum soluble intercellular adhesion molecule 1 and interleukin 8 levels in familial Mediterranean fever. , 1999, The Journal of rheumatology.

[35]  H. Drexler,et al.  Nitric oxide and coronary endothelial dysfunction in humans. , 1999, Cardiovascular research.

[36]  G. Remuzzi,et al.  Pathophysiology and management of thrombotic microangiopathies. , 1998, Journal of nephrology.

[37]  W. Cantor,et al.  Restrictive cardiomyopathy secondary to Fabry's disease. , 1998, Circulation.

[38]  G. Kolios,et al.  Mediators of inflammation: production and implication in inflammatory bowel disease. , 1998, Hepato-gastroenterology.

[39]  Gloria Dal Forno,et al.  Cognitive decline strongly correlates with cortical atrophy in Alzheimer’s dementia , 1998, Neurobiology of Aging.

[40]  J. Haines,et al.  Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium. , 1997, JAMA.

[41]  A. Evans,et al.  Incidental detection of an aortic valve papillary fibroelastoma by echocardiography in an asymptomatic patient presenting with hypertension. , 1997, The Canadian journal of cardiology.

[42]  Jacques Demaille,et al.  A candidate gene for familial Mediterranean fever , 1997, Nature Genetics.

[43]  F. Collins,et al.  Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever , 1997, Cell.

[44]  J. Hughes,et al.  Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia. , 1997, American journal of human genetics.

[45]  L. Mickleborough,et al.  Right heart pulmonary embolism in transit: a review of therapeutic considerations. , 1997, The Canadian journal of cardiology.

[46]  J P Cooke,et al.  Nitric oxide synthase: role in the genesis of vascular disease. , 1997, Annual review of medicine.

[47]  D. Jewell,et al.  Altered expression of mucins throughout the colon in ulcerative colitis. , 1997, Gut.

[48]  J. Folkman,et al.  Blood Vessel Formation: What Is Its Molecular Basis? , 1996, Cell.

[49]  A. Miyajima,et al.  Suppression of interleukin‐3‐induced gene expression by a C‐terminal truncated Stat5: role of Stat5 in proliferation. , 1996, The EMBO journal.

[50]  S. Bhanot,et al.  Effect of chronic endothelin blockade in hyperinsulinemic hypertensive rats. , 1995, The American journal of physiology.

[51]  A Giaid,et al.  Reduced expression of endothelial nitric oxide synthase in the lungs of patients with pulmonary hypertension. , 1995, The New England journal of medicine.

[52]  D. Stewart,et al.  Expression of endothelin-1 in the lungs of patients with pulmonary hypertension. , 1993, The New England journal of medicine.

[53]  E. Lindberg,et al.  Antibody (IgG, IgA, and IgM) to baker's yeast (Saccharomyces cerevisiae), yeast mannan, gliadin, ovalbumin and betalactoglobulin in monozygotic twins with inflammatory bowel disease. , 1992, Gut.

[54]  J. Berns,et al.  Inherited hemolytic uremic syndrome in adults. , 1992, American journal of kidney diseases : the official journal of the National Kidney Foundation.

[55]  A. Dhillon,et al.  Granulomatous vasculitis in Crohn's disease. , 1991, Gastroenterology.

[56]  R. Pounder,et al.  PATHOGENESIS OF CROHN'S DISEASE: MULTIFOCAL GASTROINTESTINAL INFARCTION , 1989, The Lancet.

[57]  R. Chiodini,et al.  Crohn's disease and the mycobacterioses: a review and comparison of two disease entities , 1989, Clinical Microbiology Reviews.

[58]  E. Silverstein,et al.  Angiotensin-converting enzyme in Crohn's disease and ulcerative colitis. , 1981, American journal of clinical pathology.

[59]  D. James,et al.  Biochemical findings in sarcoidosis. , 1980, Journal of clinical pathology.

[60]  P. Dentelli,et al.  Diabetic LDL inhibits cell-cycle progression via STAT5B and p21(waf). , 2002, The Journal of clinical investigation.

[61]  A. Quyyumi,et al.  Coronary vascular endothelial function and myocardial ischemia: why should we worry about endothelial dysfunction? , 2001, Coronary artery disease.

[62]  P. Froguel,et al.  Genetic determinants of type 2 diabetes. , 2001, Recent progress in hormone research.

[63]  T. Masaki,et al.  Pathophysiology of endothelin in the cardiovascular system. , 1999, Annual review of physiology.

[64]  H Shimokawa,et al.  Primary endothelial dysfunction: atherosclerosis. , 1999, Journal of molecular and cellular cardiology.

[65]  M. Mullan,et al.  beta-Amyloid-mediated vasoactivity and vascular endothelial damage. , 1996, Nature.

[66]  H. Schweisfurth,et al.  Serum angiotensin-I-converting enzyme and carboxypeptidase N in Crohn's disease and ulcerative colitis. , 1986, Enzyme.

[67]  D. Tewksbury,et al.  Serum angiotensin-converting-enzyme in Crohn's disease. , 1981, The American journal of gastroenterology.