Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases

PLoS ONE

Volumn 10, Issue 3, 2015, Pages

  Duarri, Anna ^a   Nibbeling, Esther A R ^a   Fokkens, Michiel R ^a   Meijer, Michel ^a   Boerrigter, Melissa ^a   Verschuuren Bemelmans, Corien C ^a   Kremer, Berry P H ^a   Van De Warrenburg, Bart P ^b   Dooijes, Dennis ^c   Boddeke, Erik ^a   Sinke, Richard J ^a   Verbeek, Dineke S ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

SHAW POTASSIUM CHANNEL; VOLTAGE GATED POTASSIUM CHANNEL; KCNC3 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BIOCHEMISTRY; CHANNEL GATING; COHORT ANALYSIS; COMPUTER MODEL; CONTROLLED STUDY; DEGENERATIVE DISEASE; DISEASE ASSOCIATION; DUTCHMAN; GENE MUTATION; GENE SEGREGATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; KCNC3 GENE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NERVOUS SYSTEM ELECTROPHYSIOLOGY; NETHERLANDS; PATHOGENESIS; PATHOGENICITY; PREDICTION; PREVALENCE; SEQUENCE ANALYSIS; SPINOCEREBELLAR DEGENERATION; ADULT; AGED; CAUCASIAN; COMPUTER SIMULATION; DNA SEQUENCE; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; HELA CELL LINE; METABOLISM; MIDDLE AGED; MUTATION; YOUNG ADULT;

ADULT; AGED; COMPUTER SIMULATION; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HELA CELLS; HUMANS; MIDDLE AGED; MUTATION; NETHERLANDS; SEQUENCE ANALYSIS, DNA; SHAW POTASSIUM CHANNELS; SPINOCEREBELLAR ATAXIAS; YOUNG ADULT;

EID: 84959260093     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0116599     Document Type: Article

References (32)

1. Burk K, Strzelczyk A, Reif PS, Figueroa KP, Pulst SM, et al. (2013) Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (SCA13). Int J Neurosci 123: 278-282. doi: 10.3109/00207454.2012.755180 PMID: 23215817
2. Figueroa KP, Minassian NA, Stevanin G, Waters M, Garibyan V, et al. (2010) KCNC3: Phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients. Hum Mutat 31: 191-196. doi: 10.1002/humu.21165 PMID: 19953606
3. Herman-Bert A, Stevanin G, Netter JC, Rascol O, Brassat D, et al. (2000) Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation. Am J Hum Genet 67: 229-235. PMID: 10820125
4. Waters MF, Fee D, Figueroa KP, Nolte D, Muller U, et al. (2005) An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus? Neurology 65: 1111-1113. PMID: 16135769
5. Middlebrooks JC, Nick HS, Subramony SH, Advincula J, Rosales RL, et al. (2013) Mutation in the kv3.3 voltage-gated potassium channel causing spinocerebellar ataxia 13 disrupts sound-localization mechanisms. PLoS One 8: e76749. doi: 10.1371/journal.pone.0076749 PMID: 24116147
6. Waters MF, Minassian NA, Stevanin G, Figueroa KP, Bannister JP, et al. (2006) Mutations in voltagegated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. Nat Genet 38: 447-451. PMID: 16501573
7. Goldman-Wohl DS, Chan E, Baird D, Heintz N (1994) Kv3.3b: A novel shaw type potassium channel expressed in terminally differentiated cerebellar purkinje cells and deep cerebellar nuclei. J Neurosci 14: 511-522. PMID: 8301351
8. Joho RH, Hurlock EC (2009) The role of Kv3-type potassium channels in cerebellar physiology and behavior. Cerebellum 8: 323-333. doi: 10.1007/s12311-009-0098-4 PMID: 19247732
9. Martina M, Yao GL, Bean BP (2003) Properties and functional role of voltage-dependent potassium channels in dendrites of rat cerebellar purkinje neurons. J Neurosci 23: 5698-5707. PMID: 12843273
10. Matsukawa H, Wolf AM, Matsushita S, Joho RH, Knopfel T (2003) Motor dysfunction and altered synaptic transmission at the parallel fiber-purkinje cell synapse in mice lacking potassium channels Kv3.1 and Kv3.3. J Neurosci 23: 7677-7684. PMID: 12930807
11. Veys K, Snyders D, De Schutter E (2013) Kv3.3b expression defines the shape of the complex spike in the purkinje cell. Front Cell Neurosci 7: 205. doi: 10.3389/fncel.2013.00205 PMID: 24312005
12. Zagha E, Lang EJ, Rudy B (2008) Kv3.3 channels at the purkinje cell soma are necessary for generation of the classical complex spike waveform. J Neurosci 28: 1291-1300. doi: 10.1523/JNEUROSCI. 4358-07.2008 PMID: 18256249
13. Chang SY, Zagha E, Kwon ES, Ozaita A, Bobik M, et al. (2007) Distribution of Kv3.3 potassium channel subunits in distinct neuronal populations of mouse brain. J Comp Neurol 502: 953-972. PMID: 17444489
14. Irie T, Matsuzaki Y, Sekino Y, Hirai H (2014) Kv3.3 channels harbouring a mutation of spinocerebellar ataxia type 13 alter excitability and induce cell death in cultured cerebellar purkinje cells. J Physiol 592: 229-247. doi: 10.1113/jphysiol.2013.264309 PMID: 24218544
15. Rudy B, McBain CJ (2001) Kv3 channels: Voltage-gated K+ channels designed for high-frequency repetitive firing. Trends Neurosci 24: 517-526. PMID: 11506885
16. Minassian NA, Lin MC, Papazian DM (2012) Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13. J Physiol 590: 1599-1614. doi: 10.1113/jphysiol.2012.228205 PMID: 22289912
17. Zhao J, Zhu J, Thornhill WB (2013) Spinocerebellar ataxia-13 Kv3.3 potassium channels: Arginine-tohistidine mutations affect both functional and protein expression on the cell surface. Biochem J 454: 259-265. doi: 10.1042/BJ20130034 PMID: 23734863
18. Issa FA, Mazzochi C, Mock AF, Papazian DM (2011) Spinocerebellar ataxia type 13 mutant potassium channel alters neuronal excitability and causes locomotor deficits in zebrafish. J Neurosci 31: 6831-6841. doi: 10.1523/JNEUROSCI.6572-10.2011 PMID: 21543613
19. Issa FA, Mock AF, Sagasti A, Papazian DM (2012) Spinocerebellar ataxia type 13 mutation that is associated with disease onset in infancy disrupts axonal pathfinding during neuronal development. Dis Model Mech.
20. Mock AF, Richardson JL, Hsieh JY, Rinetti G, Papazian DM (2010) Functional effects of spinocerebellar ataxia type 13 mutations are conserved in zebrafish Kv3.3 channels. BMC Neurosci 11: 99. doi: 10.1186/1471-2202-11-99 PMID: 20712895
21. Bauer P, Stevanin G, Beetz C, Synofzik M, Schmitz-Hubsch T, et al. (2010) Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among french and german kindreds. J Neurol Neurosurg Psychiatry 81: 1229-1232. doi: 10.1136/jnnp.2009.202150 PMID: 20667868
22. Cagnoli C, Stevanin G, Brussino A, Barberis M, Mancini C, et al. (2010) Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of european autosomal dominant cerebellar ataxias. Hum Mutat 31: 1117-1124. doi: 10.1002/humu.21342 PMID: 20725928
23. Duarri A, Nibbeling E, Fokkens MR, Meijer M, Boddeke E, et al. (2013) The L450P mutation in KCND3 brings spinocerebellar ataxia and brugada syndrome closer together. Neurogenetics 14: 257-258. doi: 10.1007/s10048-013-0370-0 PMID: 23963749
24. Fawcett K, Mehrabian M, Liu YT, Hamed S, Elahi E, et al. (2013) The frequency of spinocerebellar ataxia type 23 in a UK population. J Neurol 260: 856-859. doi: 10.1007/s00415-012-6721-1 PMID: 23108490
25. Jezierska J, Stevanin G, Watanabe H, Fokkens MR, Zagnoli F, et al. (2013) Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases. J Neurol 260: 1807-1812. doi: 10.1007/s00415-013-6882-6 PMID: 23471613
26. Figueroa KP, Waters MF, Garibyan V, Bird TD, Gomez CM, et al. (2011) Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13). PLoS One 6: e17811. doi: 10.1371/journal. pone.0017811 PMID: 21479265
27. Peng L, Wang C, Chen Z, Wang JL, Tang BS, et al. (2013) Spinocerebellar ataxia type 13 is an uncommon SCA subtype in the chinese han population. Int J Neurosci 123: 450-453. doi: 10.3109/00207454.2013.763254 PMID: 23293936
28. Wang J, Shen L, Lei L, Xu Q, Zhou J, et al. (2011) Spinocerebellar ataxias in mainland china: An updated genetic analysis among a large cohort of familial and sporadic cases. Zhong Nan Da Xue Xue Bao Yi Xue Ban 36: 482-489. doi: 10.3969/j.issn.1672-7347.2011.06.003 PMID: 21743138
29. Duarri A, Jezierska J, Fokkens M, Meijer M, Schelhaas HJ, et al. (2012) Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. Ann Neurol 72: 870-880. doi: 10.1002/ana.23700 PMID: 23280838
30. Gallego-Iradi C, Bickford JS, Khare S, Hall A, Nick JA, et al. (2014) KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking. Neurobiol Dis 71: 270-279. doi: 10.1016/j.nbd.2014.08.020 PMID: 25152487
31. Rajakulendran S, Schorge S, Kullmann DM, Hanna MG (2007) Episodic ataxia type 1: A neuronal potassium channelopathy. Neurotherapeutics 4: 258-266. PMID: 17395136
32. Deng Q, Rashid AJ, Fernandez FR, Turner RW, Maler L, et al. (2005) A C-terminal domain directs Kv3.3 channels to dendrites. J Neurosci 25: 11531-11541. PMID: 16354911