Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency

Molecular Genetics and Metabolism

Volumn 107, Issue 3, 2012, Pages 534-541

  Fasano, Tommaso ^a,j   Zanoni, Paolo ^a   Rabacchi, Claudio ^a   Pisciotta, Livia ^b   Favari, Elda ^c   Adorni, Maria Pia ^c   Deegan, Patrick B ^d   Park, Adrian ^d,e   Hlaing, Thinn ^d   Feher, Michael D ^f   Jones, Ben ^f   Uzak, Asli Subasioglu ^g   Kardas, Fatih ^g   Dardis, Andrea ^h   Sechi, Annalisa ^h   Bembi, Bruno ^h   Minuz, Pietro ⁱ   Bertolini, Stefano ^b   Bernini, Franco ^c   Calandra, Sebastiano ^a  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c UNIVERSITY OF PARMA   (Italy)

^d ADDENBROOKE S HOSPITAL   (United Kingdom)

^e WEST SUFFOLK HOSPITAL   (United Kingdom)

^f CHELSEA AND WESTMINSTER HOSPITAL   (United Kingdom)

^g ERCIYES UNIVERSITY   (Turkey)

^h SANTA MARIA DELLA MISERICORDIA UNIVERSITY HOSPITAL   (Italy)

ⁱ UNIVERSITY OF VERONA   (Italy)

^j S MARIA NUOVA HOSPITAL   (Italy)

more..

Author keywords

ABCA1 gene; Cell cholesterol efflux; High density lipoprotein cholesterol; Tangier disease

Indexed keywords

ABC TRANSPORTER A1; CHOLESTEROL; MESSENGER RNA; NUCLEOTIDASE;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; DISEASE ASSOCIATION; DYSLIPIDEMIA; EPISTAXIS; EXERCISE TEST; EXON; FAMILIAL HYPOALPHALIPOPROTEINEMIA; FATTY LIVER; FEMALE; FIBROBLAST; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HEART INFARCTION; HUMAN; HUMAN TISSUE; HYPERTELORISM; HYPERTENSION; HYPOCHOLESTEROLEMIA; INTRON; ISCHEMIC HEART DISEASE; MALE; MISSENSE MUTATION; MUTANT; NEUROPATHY; NOONAN SYNDROME; PERIPHERAL OCCLUSIVE ARTERY DISEASE; PRIORITY JOURNAL; RISK FACTOR; SPLENOMEGALY; TANGIER DISEASE; THORAX PAIN; THROMBOCYTOPENIA; TONSILLECTOMY; TRICUSPID VALVE REGURGITATION;

ADULT; AGED; ANIMALS; ATP-BINDING CASSETTE TRANSPORTERS; CERCOPITHECUS AETHIOPS; CHILD; CHOLESTEROL, HDL; COS CELLS; EXONS; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYPOALPHALIPOPROTEINEMIAS; INFANT; INTRONS; MALE; MUTATION; PEDIGREE; RNA SPLICE SITES; RNA SPLICING; RNA, MESSENGER; TANGIER DISEASE;

EID: 84867895303     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.08.005     Document Type: Article

References (31)

1. Assmann G., von Eckardstein A., Brewer H.B. Familial analphalipoproteinemia: Tangier disease. The Metabolic and Molecular Bases of Inherited Disease 2001, 2937-2960. McGraw-Hill, New York. 8th ed. C.R. Scriver, A.L. Beaudet, W.S. Sly, I. Valle (Eds.).
2. von Eckardstein A. Differential diagnosis of familial high density lipoprotein deficiency syndromes. Atherosclerosis 2006, 186:231-239.
3. Schaefer E.J., Santos R.D., Asztalos B.F. Marked HDL deficiency and premature coronary heart disease. Curr. Opin. Lipidol. 2010, 21:289-297.
4. Oram J.F., Heinecke J.W. ATP-binding cassette transporter A1: a cell cholesterol exporter that protects against cardiovascular disease. Physiol. Rev. 2005, 85:1343-1372.
5. Tang C., Oram J.F. The cell cholesterol exporter ABCA1 as a protector from cardiovascular disease and diabetes. Biochim. Biophys. Acta 2009, 1791:563-572.
6. Kang M.H., Singaraja R., Hayden M.R. Adenosine-triphosphate-binding cassette transporter-1 trafficking and function. Trends Cardiovasc. Med. 2010, 20:41-49.
7. Brunham L.R., Singaraja R.R., Hayden M.R. Variation on a gene: rare and common variants in ABCA1 and their impact on HDL cholesterol levels and atherosclerosis. Annu. Rev. Nutr. 2006, 26:105-129.
8. Brousseau M.E., Schaefer E.J., Dupuis J., Eustace B., Van Eerdewegh P., Goldkamp A.L., Thurston L.M., FitzGerald M.G., Yasek-McKenna D., O'Neill G., Eberhart G.P., Weiffenbach B., Ordovas J.M., Freeman M.W., Brown R.H., Gu J.Z. Novel mutations in the gene encoding ATP-binding cassette 1 in four Tangier disease kindreds. J. Lipid Res. 2000, 41:433-441.
9. Clee S.M., Kastelein J.J., van Dam M., Marcil M., Roomp K., Zwarts K.Y., Collins J.A., Roelants R., Tamasawa N., Stulc T., Suda T., Ceska R., Boucher B., Rondeau C., DeSouich C., Brooks-Wilson A., Molhuizen H.O., Frohlich J., Genest J., Hayden M.R. Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes. J. Clin. Invest. 2000, 106:1263-1270.
10. Cohen J.C., Kiss R.S., Pertsemlidis A., Marcel Y.L., McPherson R., Hobbs H.H. Multiple rare alleles contributes to low plasma levels of HDL cholesterol. Science 2004, 305:869-872.
11. Frikke-Schmidt R., Nordestgaard B.G., Jensen G.B., Tybjærg-Hansen A. Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population. J. Clin. Invest. 2004, 114:1343-1353.
12. Frikke-Schmidt R. Genetic variation in the ABCA1 gene, HDL cholesterol, and risk of ischemic heart disease in the general population. Atherosclerosis 2010, 208:305-316.
13. Pisciotta L., Bocchi L., Candini C., Sallo R., Zanotti I., Fasano T., Chakrapani A., Bates T., Bonari R., Cantafora A., Ball S., Watts G., Bernini F., Calandra S., Bertolini S. Severe HDL deficiency due to novel defects of ABCA1 transporter. J. Intern. Med. 2009, 265:359-372.
14. Pisciotta L., Miccoli R., Cantafora A., Calabresi L., Tarugi P., Alessandrini P., Bittolo Bon G., Franceschini G., Cortese C., Calandra S., Bertolini S. Recurrent mutations of the apolipoprotein A-I gene in three kindreds with severe HDL deficiency. Atherosclerosis 2003, 167:335-345.
15. Calabresi L., Pisciotta L., Costantin A., Frigerio I., Eberini I., Alessandrini P., Arca M., Bittolo Bon G., Boscutti G., Busnach G., Frascà G., Gesualdo L., Gigante M., Lupattelli G., Montali A., Pizzolitto S., Rabbone I., Rolleri M., Ruotolo G., Sampietro T., Sessa V., Vaudo G., Cantafora A., Veglia F., Calandra S., Bertolini S., Franceschini G. The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families. Arterioscler. Thromb. Vasc. Biol. 2005, 25:1972-1978.
16. Pisciotta L., Fresa R., Bellocchio A., Guido V., Priore Oliva C., Calandra S., Bertolini S. Two novel rare variants of APOA5 gene found in subjects with severe hypertriglyceridemia. Clin. Chim. Acta 2011, 412:2194-2198.
17. Altilia S., Pisciotta L., Garuti R., Tarugi P., Cantafora A., Calabresi L., Tagliabue J., Maccari S., Bernini F., Zanotti I., Vergani C., Bertolini S., Calandra S. Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene. J. Lipid Res. 2003, 44:254-264.
18. Bocchi L., Pisciotta L., Fasano T., Candini C., Puntoni M.R., Sampietro T., Bertolini S., Calandra S. Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patients with Tangier disease. Clin. Chim. Acta 2010, 411:524-530.
19. Ho Hong S., Rhyne J., Zeller K., Miller M. Novel ABCA1 compound variant associated with HDL cholesterol deficiency. Biochim. Biophys. Acta 2002, 1587:60-64.
20. Probst M.C., Thumann H., Aslanidis C., Langmann T., Buechler C., Patsch W., Baralle F.E., Dallinga-Thie G.M., Geisel J., Keller C., Menys V.C., Schmitz G. Screening for functional sequence variations and mutations in ABCA1. Atherosclerosis 2004, 175:269-279.
21. Zyss J., Bèhin A., Couvert P., Bouhour F., Sassolas A., Kolev I., Denys V., Vial C., Lacour A., Carriè A., Stojkovic T. Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease. J. Neurol. 2012, 259:1222-1226.
22. Pisciotta L., Hamilton-Craig I., Tarugi P., Bellocchio A., Fasano T., Alessandrini P., Bittolo Bon G., Siepi D., Mannarino E., Cattin L., Averna M., Cefalù B., Cantafora A., Calandra S., Bertolini S. Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders. Atherosclerosis 2004, 172:329-340.
23. Bertolini S., Pisciotta L., Seri M., Cusano R., Cantafora A., Calabresi L., Franceschini G., Ravazzolo R., Calandra S. A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease. Atherosclerosis 2001, 154:599-605.
24. Iatan I., Palmyre A., Alrasheed S., Ruel I., Genest J. Genetics of cholesterol efflux. Curr. Atheroscler. Rep. 2012, 14:235-246.
25. Váquez-Mellado J., Garcia Garcia C., Guzmán Vázquez S., Mediano G., Ornelas M., Alcocer L., Marquez A., Burgos-Vargas R. Metabolic syndrome and ischemic heart disease in gout. J. Clin. Rheumatol. 2004, 10:105-109.
26. Kamstrup P.R. Lipoprotein(a) and ischemic heart disease-a casual association? A review. Atherosclerosis 2010, 211:15-23.
27. Candini C., Schimmel A.W., Peter J., Bochem A.E., Holleboom A.G., Vergeer M., Dullaart M., Dallinga-Thie G.M., Hovingh G.K., Khoo K.L., Fasano T., Bocchi L., Calandra S., Kuivenhoven J.A., Motzacker M.M. Identification and characterization of novel loss of function mutation in ATP-binding cassette transporter A1 in patients with low plasma high-density lipoprotein cholesterol. Atherosclerosis 2010, 213:492-498.
28. Chung S., Timmins J.M., Duong M., Degirolamo C., Rong S., Sawyer J.K., Singaraja R.R., Hayden M.R., Maeda N., Rudel L.L., Shelness G.S., Parks J.S. Targeted deletion of hepatocytes ABCA1 leads to very low density lipoprotein triglyceride overproduction and low density lipoprotein hypercatabolism. J. Biol. Chem. 2010, 285:12197-12209.
29. Chung S., Gebre A.K., Seo J., Shelness G.S., Parks J.S. A novel role for ABCA1-generated large pre-beta migrating nascent HDL in the regulation of hepatic VLDL triglyceride secretion. J. Lipid Res. 2010, 51:729-742.
30. Liu M., Chung S., Shelness G.S., Parks J.S. Hepatic ABCA1 and VLDL triglyceride production. Biochim. Biophys. Acta 2012, 182:770-777.
31. Calandra S., Tarugi P., Bertolini S. Altered mRNA splicing in lipoprotein disorders. Curr. Opin. Lipidol. 2011, 22:93-99.