Loss-of-function mutations in the KCNJ8-Encoded Kir6.1 KATP channel and sudden infant death syndrome

Circulation: Cardiovascular Genetics

Volumn 4, Issue 5, 2011, Pages 510-515

  Tester, David J ^a   Tan, Bi Hua ^b   Medeiros Domingo, Argelia ^a   Song, Chunhua ^b   Makielski, Jonathan C ^b   Ackerman, Michael J ^a,c  

^a Windland Smith Rice Sudden Death Genomics Laboratory   (United States)

^b UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^c MAYO CLINIC   (United States)

Author keywords

Genetics; Ion channels; Pediatrics; Sudden death

Indexed keywords

GENOMIC DNA; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.1; PINACIDIL;

ALLELE; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUTOPSY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SEQUENCE; ETHNICITY; FEMALE; HUMAN; HUMAN TISSUE; INFANT; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOUSE; MUTAGENESIS; NEWBORN; NONHUMAN; OPEN READING FRAME; PATCH CLAMP; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SUDDEN INFANT DEATH SYNDROME;

ALLELES; ANIMALS; BASE SEQUENCE; CERCOPITHECUS AETHIOPS; COHORT STUDIES; COS CELLS; DNA MUTATIONAL ANALYSIS; FEMALE; GENE DELETION; HUMANS; INFANT; INFANT, NEWBORN; KATP CHANNELS; MALE; MICE; MUTATION, MISSENSE; OPEN READING FRAMES; PATCH-CLAMP TECHNIQUES; SUDDEN INFANT DEATH;

EID: 82955173743     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.111.960195     Document Type: Article

References (33)

1. Willinger M, James LS, Catz C. Defining the sudden infant death syndrome (SIDS): deliberations of an expert panel convened by the National Institute of Child Health and Human Development. Pediatr Pathol. 1991;11:677-684.
2. Dwyer T, Ponsonby AL, Blizzard L, Newman NM, Cochrane JA. The contribution of changes in the prevalence of prone sleeping position to the decline in sudden infant death syndrome in Tasmania. JAMA. 1995;273: 783-789.
3. Kinney HC, Thach BT. The sudden infant death syndrome. N Engl J Med. 2009;361:795-805.
4. Filiano JJ, Kinney HC. A perspective on neuropathologic findings in victims of the sudden infant death syndrome: the triple-risk model. Biol Neonate. 1994;65:194-197. (Pubitemid 24118004)
5. Hoffman HJ, Damus K, Hillman L, Krongrad E. Risk factors for SIDS. Results of the National Institute of Child Health and Human Development SIDS Cooperative Epidemiological Study. Ann N Y Acad Sci. 1988;533: 13-30.
6. Hoffman HJ, Hillman LS. Epidemiology of the sudden infant death syndrome: maternal, neonatal, and postneonatal risk factors. Clin Perinatol. 1992;19:717-737. (Pubitemid 23006258)
7. Ponsonby AL, Dwyer T, Gibbons LE, Cochrane JA, Wang YG. Factors potentiating the risk of sudden infant death syndrome associated with the prone position. N Engl J Med. 1993;329:377-382. (Pubitemid 23219341)
8. Fleming PJ, Blair PS, Bacon C, Bensley D, Smith I, Taylor E, Berry J, Golding J, Tripp J. Environment of infants during sleep and risk of the sudden infant death syndrome: results of 1993-5 case-control study for confidential inquiry into stillbirths and deaths in infancy. Confidential Enquiry into Stillbirths and Deaths Regional Coordinators and Researchers. BMJ. 1996;313:191-195.
9. Getahun D, Amre D, Rhoads GG, Demissie K. Maternal and obstetric risk factors for sudden infant death syndrome in the United States. Obstet Gynecol. 2004;103:646-652. (Pubitemid 40459022)
10. Valdes-Dapena MA. Editorial: Sudden, unexpected and unexplained death in infancy-a status report-1973. N Engl J Med. 1973;289:1195-1197.
11. Guntheroth WG. Theories of cardiovascular causes in sudden infant death syndrome. J Am Coll Cardiol. 1989;14:443-447. (Pubitemid 19199770)
12. Kanda I, Endo M. Coronary artery spasm: a hypothesis on prevention by progesterone. Med Hypotheses. 1997;49:183-185. (Pubitemid 27316540)
13. Yun AJ, Lee PY. Sudden death among infants and adults: companion disorders of maladaptive sympathetic bias. Med Hypotheses. 2004;62:857-860. (Pubitemid 38680347)
14. Weese-Mayer DE, Ackerman MJ, Marazita ML, Berry-Kravis EM. Sudden infant death syndrome: review of implicated genetic factors. Am J Med Genet. 2007;Part A. 143A:771-788. (Pubitemid 46556162)
15. Ackerman MJ, Siu BL, Sturner WQ, Tester DJ, Valdivia CR, Makielski JC, Towbin JA. Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA. 2001;286:2264-2269. (Pubitemid 33063149)
16. Tester DJ, Ackerman MJ. Sudden infant death syndrome: how significant are the cardiac channelopathies? Cardiovasc Res. 2005;67:388-396. (Pubitemid 41024866)
17. Arnestad M, Crotti L, Rognum TO, Insolia R, Pedrazzini M, Ferrandi C, Vege A, Wang DW, Rhodes TE, George AL Jr, Schwartz PJ. Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007;115:361-367. (Pubitemid 46148510)
18. Zingman LV, Alekseev AE, Hodgson-Zingman DM, Terzic A. ATPsensitive potassium channels: metabolic sensing and cardioprotection. J Appl Physiol. 2007;103:1888-1893. (Pubitemid 350033877)
19. Miki T, Suzuki M, Shibasaki T, Uemura H, Sato T, Yamaguchi K, Koseki H, Iwanaga T, Nakaya H, Seino S. Mouse model of Prinzmetal angina by disruption of the inward rectifier Kir6.1. Nature Med. 2002;8:466-472. (Pubitemid 34546748)
20. Kane GC, Lam C-F, O'Cochlain F, Hodgson DM, Reyes S, Liu X-K, Miki T, Seino S, Katusic ZS, Terzic A. Gene knockout of the KCNJ8- encoded Kir6.1 K(ATP) channel imparts fatal susceptibility to endotoxemia. FASEB J. 2006;20:2271-2280. (Pubitemid 44953857)
21. Haissaguerre M, Chatel S, Sacher F, Weerasooriya R, Probst V, Loussouarn G, Horlitz M, Liersch R, Schulze-Bahr E, Wilde A, Kaab S, Koster J, Rudy Y, Le Marec H, Schott JJ. Ventricular fibrillation with prominent early repolarization associated with a rare variant of KCNJ8/KATP channel. J Cardiovasc Electrophysiol. 2009;20:93-98.
22. Medeiros-Domingo A, Tan B-H, Crotti L, Tester DJ, Eckhardt L, Cuoretti A, Kroboth SL, Song C, Zhou Q, Kopp D, Schwartz PJ, Makielski JC, Ackerman MJ. Gain-of-function mutation S422L in the KCNJ8-encoded cardiac KATP channel Kir6.1 as a pathogenic substrate for J-wave syndromes. Heart Rhythm. 2010;7:1466-1471.
23. Foell JD, Balijepalli RC, Delisle BP, Yunker AMR, Robia SL, Walker JW, McEnery MW, January CT, Kamp TJ. Molecular heterogeneity of calcium channel beta-subunits in canine and human heart: evidence for differential subcellular localization. Physiol Genom. 2004;17:183-200. (Pubitemid 38924164)
24. Chutkow WA, Makielski JC, Nelson DJ, Burant CF, Fan Z. Alternative splicing of sur2 Exon 17 regulates nucleotide sensitivity of the ATPsensitive potassium channel. J Biol Chem. 1999;274:13656-13665.
25. Tester DJ, Dura M, Carturan E, Reiken S, Wronska A, Marks AR, Ackerman MJ. A mechanism for sudden infant death syndrome (SIDS): stress-induced leak via ryanodine receptors. Heart Rhythm. 2007;4:733-739. (Pubitemid 46850614)
26. Miki T, Seino S. Roles of KATP channels as metabolic sensors in acute metabolic changes. J Mol Cell Cardiol. 2005;38:917-925. (Pubitemid 40725939)
27. Zhang H, Flagg TP, Nichols CG. Cardiac sarcolemmal K(ATP) channels: latest twists in a questing tale! J Mol Cell Cardiol. 2010;48:71-75.
28. Singh H, Hudman D, Lawrence CL, Rainbow RD, Lodwick D, Norman RI. Distribution of Kir6.0 and SUR2 ATP-sensitive potassium channel subunits in isolated ventricular myocytes. J Mol Cell Cardiol. 2003;35:445-459. (Pubitemid 36539451)
29. van Bever L, Poitry S, Faure C, Norman RI, Roatti A, Baertschi AJ. Pore loop-mutated rat KIR6.1 and KIR6.2 suppress KATP current in rat cardiomyocytes. Am J Physiol Heart Circ Physiol. 2004;287:H850-H859. (Pubitemid 38955322)
30. Cui Y, Giblin JP, Clapp LH, Tinker A. A mechanism for ATP-sensitive potassium channel diversity: functional coassembly of two pore-forming subunits. Proc Natl Acad Sci U S A. 2001;98:729-734. (Pubitemid 32105111)
31. Chockalingam P, Clur S-AB, Reimer AG, Blom NA, Wilde AA. Idiopathic ventricular fibrillation in two infants, not always idiopathic on follow-up. Heart Rhythm. 2009;6:1501-1503.
32. Croker B, Crozat K, Berger M, Xia Y, Sovath S, Schaffer L, Eleftherianos I, Imler J-L, Beutler B. ATP-sensitive potassium channels mediate survival during infection in mammals and insects. Nature Genet. 2007;39:1453-1460. (Pubitemid 350191344)
33. Shi W, Cui N, Wu Z, Yang Y, Zhang S, Gai H, Zhu D, Jiang C. Lipopolysaccharides up-regulate Kir6.1/SUR2B channel expression and enhance vascular KATP channel activity via NF-kappaB-dependent signaling. J Biol Chem. 2010;285:3021-3029.