Cellular dysfunction of LQT5-minK mutants: Abnormalities of I(Ks), I(Kr) and trafficking in long QT syndrome

Human Molecular Genetics

Volumn 8, Issue 8, 1999, Pages 1499-1507

  Bianchi, Laura ^a,d   Shen, Zhijun ^a   Dennis, Adrienne T ^a   Priori, Silvia G ^b   Napolitano, Carlo ^b   Ronchetti, Elena ^b   Bryskin, Robert ^a   Schwartz, Peter J ^c   Brown, Arthur M ^a  

^a CASE WESTERN RESERVE UNIVERSITY   (United States)

^b IRCCS   (Italy)

^c UNIVERSITY OF PAVIA   (Italy)

^d VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

POTASSIUM CHANNEL; POTASSIUM ION;

ADOLESCENT; ADULT; ANIMAL CELL; ARTICLE; CHANNEL GATING; CONTROLLED STUDY; ELECTROPHYSIOLOGY; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; LONG QT SYNDROME; MALE; NONHUMAN; OOCYTE; POTASSIUM TRANSPORT; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; XENOPUS;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ANIMALS; CATION TRANSPORT PROTEINS; CELL LINE; DNA-BINDING PROTEINS; ELECTROPHYSIOLOGY; ETHER-A-GO-GO POTASSIUM CHANNELS; FAMILY HEALTH; FEMALE; GENE EXPRESSION; HUMANS; LONG QT SYNDROME; MALE; MEMBRANE POTENTIALS; MUTATION; OOCYTES; PATCH-CLAMP TECHNIQUES; PEDIGREE; POTASSIUM CHANNELS; POTASSIUM CHANNELS, VOLTAGE-GATED; TRANS-ACTIVATORS; XENOPUS;

ANIMALIA; MUSTELA VISON;

EID: 0032837051     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.8.1499     Document Type: Article

References (32)

1. Schwartz, P.J., Priori, S.G. and Napolitano, C. (1999) Long QT syndrome. In Zipes, D.P. and Jalife, J. (eds), Cardiac Electrophysiology: From Cell to Bedside. 3rd edn. W.B. Saunders Co., Philadelphia, in press.
2. Romano, C., Gemme, G. and Pondiglione, R. (1963) Aritmie cardiache rare dell' eta' pediatrica. Clin. Pedriatr., 45, 656-683.
3. Jervell, A. and Lange-Nielsen, F. (1957) Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval, and sudden death. Am. Heart J., 54, 59-68.
4. Wang, Q., Curran, M.E., Splawski, I., Burn, T.C., Millholland, J.M., VanRaay, T.J., Shen, J., Timothy, K.W., Vincent, G.M., de Jager, T., Schwartz, P.J., Toubin, J.A., Moss, A.J., Atkinson, D.L., Landes, G.M., Connors, T.D. and Keating, M.T. (1996) Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nature Genet., 12, 17-23.
5. Curran, M.E., Splawski, I., Timothy, K.W., Vincent, G.M., Green, E.D. and Keating, M.T. (1995) A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell, 80, 795-803.
6. Wang, Q., Shen, J., Splawski, I., Atkinson, D., Li, Z., Robinson, J.L., Moss, A.J, Towbin, J.A. and Keating, M.T. (1995) SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell, 80, 805-811.
7. Duggal, P., Veseley, M.R., Wattanasirichaigoon, D., Villafane, J., Kaushik, V. and Beggs, A.H. (1998) Mutations of the gene for isk associated with both Jervell and Lange-Nielsen and Romano-Ward forms of the long-QT syndrome. Circulation, 97, 142-146.
8. Schulze-Bahr, E., Wang, Q., Wedekind, H., Haverkamp, W., Chen, Q., Sun, Y., Rubie, C., Hordt, M., Towbin, J.A., Borggrefe, M., Assmann, G., Qu, X., Somberg, J.C., Breithardt, G., Oberti, C. and Funke, H. (1997) KCNE1 mutations cause Jervell and Lange-Nielsen syndrome. Nature Genet., 17, 267-268.
9. Brown, A.M. (1997) Cardiac potassium channels in health and disease. Trends Cardiovasc. Med., 7, 118-124.
10. Sanguinetti, M.C., Jiang, C., Curran, M.E. and Keating, M.T. (1995) A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel. Cell, 81, 299-307.
11. Zhou, Z., Gong, Q., Ye, B., Fan, Z., Makielski, J.C., Robertson, G.A. and January, C.T. (1998) Properties of HERO channels stably expressed in HEK 293 cells studied at physiological temperature. Biophys. J., 74, 230-241.
12. Barhanin, J., Lesage, F., Guillemare, E., Fink, M., Lazdunski, M. and Romey, G. (1996) KvLQT1 and Isk (minK) proteins associate to form the IKs cardiac potassium current. Nature, 384, 78-80.
13. Sanguinetti, M.C., Curran, M.E., Zou, A., Shen, J., Spector, P.S., Atkinson, D.L. and Keating, M.T. (1996) Coassembly of KvLQT1 and minK (Isk) proteins to form cardiac IKs potassium channel. Nature, 384, 80-83.
14. Tai, K.-K. and Goldstein, S.A.N. (1998) The conduction pore of a cardiac potassium channel. Nature, 391, 605-608.
15. Wang, K.-W., Tai, K.-K. and Goldstein, S. (1996) MinK residues line a potassium channel pore. Neuron, 16, 571-577.
16. Wang, K.-W. and Goldstein, S.A.N. (1991) Subunit composition of minK potassium channels. Neuron, 14, 1303-1309.
17. Romey, G., Attali, B., Chouabe, C., Abitbol, I., Guillemare, E., Barhanin, J. and Lazdunski, M. (1997) Molecular mechanism and functional significance of the MinK control of the KvLQT1 channel activity. J. Biol. Chem., 272, 16713-16716.
18. McDonald, T.V., Yu, Z., Ming, Z., Palma, E., Meyers, M.B., Wang, K.W., Goldstein, S.A. and Fishman, G.I. (1997) A minK-HERG complex regulates the cardiac potassium current I (Kr). Nature, 388, 289-292.
19. Ks channels and channels formed with two MinK mutants that cause long QT syndrome. J. Gen. Physiol., 112, 651-663.
20. Splawski, I., Tristani-Firouzi, M., Lehmann, M.H., Sanguinetti, M.C. and Keating, M.T. (1997) Mutations in the hminK gene cause long QT syndrome and suppress IKs function. Nature Genet., 17, 338-340.
21. Napolitano, C., Priori, S.G., Brown, A.M., Memmi, M., Bianchi, L., Lucca, E., Dennis, A. and Schwartz, P.J. (1998) Variable expressivity of the cardio-auditory phenotype in the Jervell and Lange-Nielsen syndrome. # 106242, AHA Meeting, Dallas, TX.
22. Tyson, J., Tranebjaerg, L., Bellman, S., Wren, C., Taylor, J.F.N., Bathen, J., Aslaksen, B., Jan Sorland, S., Lund, O., Malcom, S., Pembrey, M., Bhattacharya, S. and Bitner-Glindzicz, M. (1997) Isk and KvLQT1: mutations in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. Hum. Mol. Genet., 6, 2179-2185.
23. Zhou, Z., Gong, Q., Epstein, M.L. and January, C.T. (1998) Herg channel dysfunction in human long QT syndrome: intracellular transport and functional defects. J. Biol. Chem., 273, 21061-21066.
24. Yang, W.P., Levesque, P.C., Little, W.A., Conder, M.L., Shalaby, F.Y. and Blanar, M.A. (1997) KvLQT1, a voltage-gated potassium channel responsible for human cardiac arrhythmias. Proc. Natl Acad. Sci. USA, 94, 4017-4021.
25. + current with a cell cycle dependence governs the resting potential of neuroblastoma cells. J. Physiol., 489, 455-471.
26. Tzounopoulos, T., Maylie, J. and Adelman, J.P. (1995) Induction of endogenous channels by high levels of heterologous membrane proteins in Xenopus oocytes. Biophys. J., 69, 904-908.
27. - channels in Xenopus oocytes: evidence for regulatory function. J. Biol. Chem., 271, 8768-8771.
28. Wang, K.-W. and Goldstein, S.A.N. (1995) Subunit composition of minK potassium channels. Neuron, 14, 1303-1309.
29. + channel mutations found in inherited cardiac arrhythmias. Hum. Mol. Genet., 6, 1943-1949.
30. Sambrook, J., Fritsch, E.F. and Maniatis, T. (1989) Molecular Cloning: A Laboratory Manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
31. Priori, S.G., Schwartz, P.J., Napolitano, C., Bianchi, L., Dennis, A., De Fusco, M., Brown, A.M. and Casari, G. (1998) A recessive variant of the Romano-Ward long-QT syndrome? Circulation, 97, 2420-2425.
32. Ho, S.N., Hunt, R.M., Pullen, J.K. and Pease, L.R. (1989) Site directed mutagenesis by overlap extension using the polymerase chain reaction. Gene, 77, 51-59.