454
Views
9
CrossRef citations to date
0
Altmetric
Gene of the issue

ABCG5 and ABCG8 gene variations associated with sitosterolemia and platelet dysfunction

ORCID Icon, , & ORCID Icon
Pages 573-577 | Received 15 Apr 2020, Accepted 02 Jun 2020, Published online: 16 Jun 2020

References

  • Tada H, Nohara A, Inazu A, Sakuma N, Mabuchi H, Kawashiri MA. Sitosterolemia, hypercholesterolemia, and coronary artery disease. J Atheroscler Thromb 2018;25:783–789. PMID: 30033951. doi: 10.5551/jat.RV17024.
  • Bhattacharyya AK, Connor WE. Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. J Clin Invest 1974;53:1033–1043. PMID: 4360855. doi: 10.1172/JCI107640.
  • Hubacek JA, Berge KE, Cohen JC, Hobbs HH. Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. Hum Mutat 2001;18:359–360. PMID: 11668628. doi: 10.1002/humu.1206.
  • Kidambi S, Patel SB. Sitosterolaemia: pathophysiology, clinical presentation and laboratory diagnosis. J Clin Pathol 2008;61:588–594. PMID: 18441155. doi: 10.1136/jcp.2007.049775.
  • Lee JY, Kinch LN, Borek DM, Wang J, Wang J, Urbatsch IL, Xie XS, Grishin NV, Cohen JC, Otwinowski Z, et al. Crystal structure of the human sterol transporter ABCG5/ABCG8. Nature 2016;533:561‐564.. PMID: 27144356. doi: 10.1038/nature17666.
  • Escolà-Gil JC, Quesada H, Julve J, Martín-Campos JM, Cedó L, Blanco-Vaca F. Sitosterolemia: diagnosis, investigation, and management. Curr Atheroscler Rep 2014;16:424. PMID: 24821603. doi: 10.1007/s11883-014-0424-2.
  • McDaniel AL, Alger HM, Sawyer JK, Kelley KL, Kock ND, Brown JM, Temel RE, Rudel LL. Phytosterol feeding causes toxicity in ABCG5/G8 knockout mice. Am J Pathol 2013;182:1131–1138. PMID: 23380580. doi: 10.1016/j.ajpath.2012.12.014.
  • Bastida JM, Girós ML, Benito R, Janusz K, Hernández-Rivas JM, González-Porras JR. Sitosterolemia: diagnosis, metabolic and hematological abnormalities, cardiovascular disease and management. Curr Med Chem 2019;26:6766–6775. PMID: 29984642. doi: 10.2174/0929867325666180705145900.
  • Xu L, Wen W, Yang Y, Xie J, Li R, Wu Y, Hu Y, Wang L, Chong M. Features of sitosterolemia in children. Am J Cardiol 2020;125:1312–1316. PMID: 32143815. doi: 10.1016/j.amjcard.2020.01.048.
  • Yoo EG. Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management. Ann Pediatr Endocrinol Metab 2016;21:7–14. PMID: 27104173. doi: 10.6065/apem.2016.21.1.7.
  • Benito-Vicente A, Uribe KB, Jebari S, Galicia-Garcia U, Ostolaza H, Familial Hypercholesterolemia: MC. The most frequent cholesterol metabolism disorder caused disease. Int J Mol Sci 2018;19(1):3426. PMID: 30388787. doi: 10.3390/ijms19113426.
  • Bastida JM, Benito R, Janusz K, Díez-Campelo M, Hernández-Sánchez JM, Marcellini S, Girós M, Rivera J, Lozano ML, Hortal A, et al. Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia. J Thromb Haemost 2017;15:1859–1866. PMID: 28696550. doi: 10.1111/jth.13777.
  • Kojima N, Tada H, Usui S, Sakata K, Hayashi K, Nohara A, Inazu A, Takamura M, Kawashiri MA. Serum sitosterol level predicting ABCG5 or ABCG8 genetic mutations. Clin Chim Acta 2020;507:11–16. PMID: 32275988. doi: 10.1016/j.cca.2020.04.003.
  • Othman RA, Myrie SB, Jones PJ. Non-cholesterol sterols and cholesterol metabolism in sitosterolemia. Atherosclerosis 2013;231:291–299. PMID: 24267242. doi: 10.1016/j.atherosclerosis.2013.09.038.
  • Sabeva NS, McPhaul CM, Li X, Cory TJ, Feola DJ, Graf GA. Phytosterols differentially influence ABC transporter expression, cholesterol efflux and inflammatory cytokine secretion in macrophage foam cells. J Nutr Biochem 2011;22:777–783. PMID: 21111593. doi: 10.1016/j.jnutbio.2010.07.002.
  • Wang Z, Cao L, Su Y, Wang G, Wang R, Yu Z, Bai X, Ruan C. Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia. Am J Hematol 2014;89:320–324. PMID: 24166850. doi: 10.1002/ajh.23619.
  • Stewart GW, Lloyd J, Pegel K, Lloyd J. Mediterranean stomatocytosis/macrothrombocytopenia: update from Adelaide, Australia. Br J Haematol 2006;132:651–661. PMID: 16445847. doi: 10.1111/j.1365-2141.2006.05973.x.
  • Wang G, Wang Z, Liang J, Cao L, Bai X, Ruan C. A phytosterolemia patient presenting exclusively with macrothrombocytopenia and stomatocytic hemolysis. Acta Haematol 2011;126:95–98. PMID: 21576934. doi: 10.1159/000327248.
  • Kruit JK, Drayer AL, Bloks VW, Blom N, Olthof SG, Sauer PJ, de Haan G, Kema IP, Vellenga E, Kuipers F. Plant sterols cause macrothrombocytopenia in a mouse model of sitosterolemia. J Biol Chem 2008;283:6281–6287. PMID: 18156627. doi: 10.1074/jbc.M706689200.
  • Chase TH, Lyons BL, Bronson RT, Foreman O, Donahue LR, Burzenski LM, Gott B, Lane P, Harris B, Ceglarek U, et al. The mouse mutation “thrombocytopenia and cardiomyopathy” (trac) disrupts Abcg5: a spontaneous single gene model for human hereditary phytosterolemia/sitosterolemia. Blood 2010;115:1267–1276. PMID: 19846887. doi: 10.1182/blood-2009-05-219808.
  • Kanaji T, S K, Montgomery RR, Patel SB, Newman PJ. Platelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of sitosterolemia. Blood 2013;122:2732–2742. PMID: 23926302. doi: 10.1182/blood-2013-06-510461.
  • Greinacher A, Pecci A, Kunishima S, Althaus K, Nurden P, Balduini CL, Bakchoul T. Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders. J Thromb Haemost 2017;15:1511–1521. PMID: 28457011. doi: 10.1111/jth.13729.
  • Bastida JM, Benito R, Lozano ML, Marín-Quilez A, Janusz K, Martín-Izquierdo M, Hernández-Sánchez J, Palma-Barqueros V, Hernández-Rivas JM, Rivera J, et al. Molecular diagnosis of inherited coagulation and bleeding disorders. Semin Thromb Hemost 2019;45:695–707. PMID: 31041795. doi: 10.1055/s-0039-1687889.
  • Bastida JM, Lozano ML, Benito R, Janusz K, Palma-Barqueros V, Del Rey M, Hernández-Sánchez JM, Riesco S, Bermejo N, González-García H, et al. Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders. Haematologica 2018;103:148–162. PMID: 28983057. doi: 10.3324/haematol.2017.171132.
  • Othman RA, Myrie SB, Mymin D, Merkens LS, Roullet JB, Steiner RD, Jones PJ. Ezetimibe reduces plant sterol accumulation and favorably increases platelet count in sitosterolemia. J Pediatr 2015;166:125–131. PMID: 25444527. doi: 10.1016/j.jpeds.2014.08.069.
  • Lu K, Lee MH, Hazard S, Brooks-Wilson A, Hidaka H, Kojima H, Ose L, Stalenhoef AF, Mietinnen T, Bjorkhem I, et al. Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively. Am J Hum Genet 2001;69:278–290. PMID: 11452359. doi: 10.1086/321294.
  • Patel SB. Recent advances in understanding the STSL locus and ABCG5/ABCG8 biology. Curr Opin Lipidol 2014;25:169‐175. PMID: 24811295. doi: 10.1097/MOL.0000000000000071.
  • Zein AA, Kaur R, Hussein TOK, Graf GA, Lee JY. ABCG5/G8: a structural view to pathophysiology of the hepatobiliary cholesterol secretion. Biochem Soc Trans 2019;47:1259‐1268. PMID: 31654053. doi: 10.1042/BST20190130.
  • Patel SB, Graf GA, Temel RE. ABCG5 and ABCG8: more than a defense against xenosterols. J Lipid Res 2018;59:1103‐1113. PMID: 29728459. doi: 10.1194/jlr.R084244.
  • Richards S, Aziz N, Bale S, D B, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al. ACMG laboratory quality assurance committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405‐424. PMID: 25741868. doi: 10.1038/gim.2015.30.
  • Kopanos C, Tsiolkas V, Kouris A, Chapple CE, Albarca-Aguilera M, Meyer R, Massouras A. VarSome: the human genomic variant search engine. Bioinformatics 2019;35:1978‐1980. PMID: 30376034. doi: 10.1093/bioinformatics/bty897.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.