Functional studies on three novel HCNH2 mutations in Taiwan: Identification of distinct mechanisms of channel defect and dissociation between glycosylation defect and assembly defect

Biochemical and Biophysical Research Communications

Volumn 373, Issue 4, 2008, Pages 572-578

  Hsueh, Chia Hsiang ^a   Chen, Wen Pin ^a   Lin, Jiunn Lee ^b   Liu, Yen Bin ^b   Su, Ming Jai ^a   Lai, Ling Ping ^a,b  

^a NATIONAL TAIWAN UNIVERSITY   (Taiwan)

^b NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Glycosylation; HERG; Long QT syndrome; Potassium channel; Trafficking; Voltage clamp

Indexed keywords

FEXOFENADINE; GREEN FLUORESCENT PROTEIN; POTASSIUM CHANNEL HERG;

ARTICLE; CELL MIGRATION; CHANNELOPATHY; CLINICAL ARTICLE; CONFOCAL MICROSCOPY; CONTROLLED STUDY; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION; GENE FUSION; GENE MUTATION; GENETIC TRANSFECTION; HEART ELECTROPHYSIOLOGY; HUMAN; HUMAN CELL; IMMUNOPRECIPITATION; LONG QT SYNDROME; MEMBRANE CURRENT; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN GLYCOSYLATION; TAIWAN; WILD TYPE;

BLOTTING, WESTERN; ETHER-A-GO-GO POTASSIUM CHANNELS; GLYCOSYLATION; GREEN FLUORESCENT PROTEINS; HUMANS; IMMUNOPRECIPITATION; KINETICS; LONG QT SYNDROME; MICROSCOPY, CONFOCAL; MUTATION; TAIWAN;

EID: 48949115116     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2008.06.081     Document Type: Article

References (20)

1. Vandenberg J.I., Torres A.M., Campbell T.J., and Kuchel P.W. The HERG K+ channel: progress in understanding the molecular basis of its unusual gating kinetics. Eur. Biophys. J. 33 (2004) 89-97
2. Tseng G.N. I(Kr): the hERG channel. J. Mol. Cell. Cardiol. 33 (2001) 835-849
3. Sanguinetti M.C., and Tristani-Firouzi M. hERG potassium channels and cardiac arrhythmia. Nature 440 (2006) 463-469
4. Sanguinetti M.C., Jiang C., Curran M.E., and Keating M.T. A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel. Cell 81 (1995) 299-307
5. Shimizu W. The long QT syndrome: therapeutic implications of a genetic diagnosis. Cardiovasc. Res. 67 (2005) 347-356
6. Towbin J.A., and Vatta M. Molecular biology and the prolonged QT syndromes. Am. J. Med. 110 (2001) 385-398
7. Delisle B.P., Anson B.D., Rajamani S., and January C.T. Biology of cardiac arrhythmias: ion channel protein trafficking. Circ. Res. 94 (2004) 1418-1428
8. Lai L.P., Su Y.N., Hsieh F.J., Chiang F.T., Juang J.M., Liu Y.B., Ho Y.L., Chen W.J., Yeh S.J., Wang C.C., Ko Y.L., Wu T.J., Ueng K.C., Lei M.H., Tsao H.M., Chen S.A., Lin T.K., Wu M.H., Lo H.M., Huang S.K., and Lin J.L. Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms. J. Hum. Genet. 50 (2005) 490-496
9. Rajamani S., Anderson C.L., Anson B.D., and January C.T. Pharmacological rescue of human K(+) channel long-QT2 mutations: human ether-a-go-go-related gene rescue without block. Circulation 105 (2002) 2830-2835
10. Anderson C.L., Delisle B.P., Anson B.D., Kilby J.A., Will M.L., Tester D.J., Gong Q., Zhou Z., Ackerman M.J., and January C.T. Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation 113 (2006) 365-373
11. Kupershmidt S., Yang T., Chanthaphaychith S., Wang Z., Towbin J.A., and Roden D.M. Defective human ether-a-go-go-related gene trafficking linked to an endoplasmic reticulum retention signal in the C terminus. J. Biol. Chem. 277 (2002) 27442-27448
12. Akhavan A., Atanasiu R., and Shrier A. Identification of a COOH-terminal segment involved in maturation and stability of human ether-a-go-go-related gene potassium channels. J. Biol. Chem. 278 (2003) 40105-40112
13. Gong Q., Keeney D.R., Robinson J.C., and Zhou Z. Defective assembly and trafficking of mutant HERG channels with C-terminal truncations in long QT syndrome. J. Mol. Cell. Cardiol. 37 (2004) 1225-1233
14. Sasano T., Ueda K., Orikabe M., Hirano Y., Kawano S., Yasunami M., Isobe M., Kimura A., and Hiraoka M. Novel C-terminus frameshift mutation, 1122fs/147, of HERG in LQT2: additional amino acids generated by frameshift cause accelerated inactivation. J. Mol. Cell. Cardiol. 37 (2004) 1205-1211
15. Aydar E., and Palmer C. Functional characterization of the C-terminus of the human ether-a-go-go-related gene K(+) channel (HERG). J. Physiol. 534 (2001) 1-14
16. Thomas D., Kiehn J., Katus H.A., and Karle C.A. Defective protein trafficking in hERG-associated hereditary long QT syndrome (LQT2): molecular mechanisms and restoration of intracellular protein processing. Cardiovasc. Res. 60 (2003) 235-241
17. Zou A., Xu Q.P., and Sanguinetti M.C. A mutation in the pore region of HERG K+ channels expressed in Xenopus oocytes reduces rectification by shifting the voltage dependence of inactivation. J. Physiol. 509 Pt. 1 (1998) 129-137
18. Hayashi K., Shimizu M., Ino H., Yamaguchi M., Mabuchi H., Hoshi N., and Higashida H. Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome. Cardiovasc. Res. 54 (2002) 67-76
19. Lees-Miller J.P., Duan Y., Teng G.Q., Thorstad K., and Duff H.J. Novel gain-of-function mechanism in K(+) channel-related long-QT syndrome: altered gating and selectivity in the HERG1 N629D mutant. Circ. Res. 86 (2000) 507-513
20. Delisle B.P., Slind J.K., Kilby J.A., Anderson C.L., Anson B.D., Balijepalli R.C., Tester D.J., Ackerman M.J., Kamp T.J., and January C.T. Intragenic suppression of trafficking-defective KCNH2 channels associated with long QT syndrome. Mol. Pharmacol. 68 (2005) 233-240