Pseudoxanthoma elasticum and familial hypercholesterolemia: A deleterious combination of cardiovascular risk factors

Atherosclerosis

Volumn 210, Issue 1, 2010, Pages 173-176

  Pisciotta, Livia ^a   Tarugi, Patrizia ^b   Borrini, Claudia ^a   Bellocchio, Antonella ^a   Fresa, Raffaele ^a   Guerra, Deanna ^b   Quaglino, Daniela ^b   Ronchetti, Ivonne ^b   Calandra, Sebastiano ^b   Bertolini, Stefano ^a  

^a UNIVERSITY OF GENOA   (Italy)

^b UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

Author keywords

ABCC6 gene; Coronary Artery Disease (CAD); Familial Hypercholesterolemia (FH); LDLR gene; Pxeudoxanthoma elasticum (PXE)

Indexed keywords

APOLIPOPROTEIN B; EZETIMIBE PLUS SIMVASTATIN; KEXIN; KEXIN 9; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; MULTIDRUG RESISTANCE PROTEIN 6; SUBTILISIN; UNCLASSIFIED DRUG;

ADULT; ANGINA PECTORIS; ANGIOCARDIOGRAPHY; ARTERY CALCIFICATION; ARTICLE; CARDIOVASCULAR RISK; CASE REPORT; CORONARY ARTERY OBSTRUCTION; DISEASE ASSOCIATION; DISEASE SEVERITY; DRUG TARGETING; ECHOCARDIOGRAPHY; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE SEQUENCE; GENETIC ASSOCIATION; HEART MUSCLE ISCHEMIA; HETEROZYGOSITY; HUMAN; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PSEUDOXANTHOMA ELASTICUM; RISK FACTOR; RISK REDUCTION; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY;

ADOLESCENT; ADULT; CHILD; CORONARY ARTERY DISEASE; FEMALE; GENETIC TESTING; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; MUTATION, MISSENSE; PEDIGREE; PSEUDOXANTHOMA ELASTICUM; RISK MANAGEMENT;

EID: 77952422678     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2009.11.028     Document Type: Article

References (12)

1. Finger R.P., Issa P.C., Ladewing M.S., et al. Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches. Surv Ophthalmol 2009, 54:272-285.
2. Vanakker O.M., Leroy B.P., Coucke P., et al. Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart. Hum Mutat 2008, 29:205.
3. Li Q., Jiang Q., Pfendner E., Varadi A., Uitto J. Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms. Exp Dermatol 2009, 18:1-11.
4. Soutar A.K., Naumova R.P. Mechanisms of disease: genetic causes of familial hypercholesterolemia. Nat Clin Pract Cardiovasc 2007, 4:214-225.
5. Varret M., Abifadel M., Rabès J.-P., Boileau C. Genetic heterogeneity of autosomal dominant hypercholesterolemia. Clin Genet 2008, 73:1-13.
6. Abifadel M., Rabes J.-P., Devillers M., et al. Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease. Hum Mutat 2009, 30:520-529.
7. Noji Y., Inazu A., Higashikata T., et al. Identification of two novel missense mutations (p.R1221C and p.R1357W) in the ABCC6 (MRP6) gene in a Japanese patient with pseudoxanthoma elasticum (PXE). Intern Med 2004, 43:1171-1176.
8. Trip M.D., Smulders Y.M., Wegman J.J., et al. Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease. Circulation 2002, 106:773-775.
9. Garcia Fernandez M.I., Gheduzzi D., Boraldi F., et al. Parameters of oxidative stress are present in the circulation of PXE patients. Biochim Biophys Acta 2008, 1782:474-481.
10. Pasquali-Ronchetti I., Garcia-Fernandez M.I., Boraldi F., et al. Oxidative stress in fibroblasts from patients with pseudoxanthoma elasticum: possible role in the pathogenesis of clinical manifestations. J Pathol 2006, 208:54-61.
11. Li Q., Jiang Q., Uitto J. Pseudoxanthoma elasticum: oxidative stress and antioxidant diet in a mouse model (Abcc6-/-). J Invest Dermatol 2008, 128-1160-4.
12. Fraley A.E., Tsimikas S. Clinical applications of circulating oxidized low-density lipoprotein biomarkers in cardiovascular disease. Curr Opin Lipidol 2006, 17:502-509.