Potential Benefit of Channel Activators in Loss-of-Function Primary Potassium Channelopathies Causing Heredoataxia.

Episodic ataxia type 1 Myoclonus epilepsy and ataxia due to KCNC1 mutation Potassium channel Potassium channel opener Spinocerebellar ataxia type 13 Spinocerebellar ataxia type 19

Journal

Cerebellum (London, England)

ISSN: 1473-4230

Titre abrégé: Cerebellum

Pays: United States

ID NLM: 101089443

Informations de publication

Date de publication:
Apr 2024

Historique:

accepted: 29 06 2023

pubmed: 18 7 2023

medline: 18 7 2023

entrez: 17 7 2023

Statut: ppublish

Résumé

Potassium channels (KCN) are transmembrane complexes that regulate the resting membrane potential and the duration of action potentials in cells. The opening of KCN brings about an efflux of K

Identifiants

DOI: 10.1007/s12311-023-01584-8 PMID: 37460907

pubmed: 37460907

doi: 10.1007/s12311-023-01584-8

pii: 10.1007/s12311-023-01584-8

doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

Pagination

833-837

Informations de copyright

Références

Huang H, Shakkottai VG. Targeting ion channels and Purkinje neuron intrinsic membrane excitability as a therapeutic strategy for cerebellar ataxia. Life. 2023;13:1350.

doi: 10.3390/life13061350 pubmed: 37374132 pmcid: 10302946

Srinivasan SR, Huang H, Chang WC, Nasburg JA, Nguyen HM, Strassmaier T, et al. Discovery of novel activators of large-conductance calcium-activated potassium channels for the treatment of cerebellar ataxia. Mol Pharmacol. 2022;102:438–49.

doi: 10.1124/molpharm.121.000478 pubmed: 35489717

Womack MD, Khodakhah K. Somatic and dendritic small-conductance calcium-activated potassium channels regulate the output of cerebellar Purkinje neurons. J Neurosci. 2003;23:2600–7.

doi: 10.1523/JNEUROSCI.23-07-02600.2003 pubmed: 12684445 pmcid: 6742089

Pulst SM, Otis TS. Repolarization matters: mutations in the Kv4.3 potassium channel cause SCA19/22. Ann Neurol. 2012;72:829–31.

doi: 10.1002/ana.23803 pubmed: 23280833

Köhling R, Wolfart J. Potassium channels in epilepsy. Cold Spring Harb Perspect Med. 2016;6: a022871.

doi: 10.1101/cshperspect.a022871 pubmed: 27141079 pmcid: 4852798

Lawson K. Is there a role for potassium channel openers in neuronal ion channel disorders? Expert Opin Investig Drugs. 2000;9:2269–80.

doi: 10.1517/13543784.9.10.2269 pubmed: 11060806

Waters MF, Minassian NA, Stevanin G, Figueroa KP, Bannister JP, Nolte D, et al. Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. Nat Genet. 2006;38:447–51.

doi: 10.1038/ng1758 pubmed: 16501573

Zhang Y, Kaczmarek LK. Kv3.3 potassium channels and spinocerebellar ataxia. J Physiol. 2016;594:4677–84.

doi: 10.1113/JP271343 pubmed: 26442672

Minassian NA, Lin MC, Papazian DM. Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13. J Physiol. 2012;590:1599–614.

doi: 10.1113/jphysiol.2012.228205 pubmed: 22289912 pmcid: 3413486

McMahon A, Fowler SC, Perney TM, Akemann W, Knöpfel T, Joho RH. Allele-dependent changes of olivocerebellar circuit properties in the absence of the voltage-gated potassium channels Kv3.1 and Kv3.3. Eur J Neurosci. 2004;19:3317–27.

doi: 10.1111/j.0953-816X.2004.03385.x pubmed: 15217387

Duarri A, Jezierska J, Fokkens M, Meijer M, Schelhaas HJ, den Dunnen WF, et al. Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. Ann Neurol. 2012;72:870–80.

doi: 10.1002/ana.23700 pubmed: 23280838

Lee YC, Durr A, Majczenko K, Huang YH, Liu YC, Lien CC, et al. Mutations in KCND3 cause spinocerebellar ataxia type 22. Ann Neurol. 2012;72:859–69.

doi: 10.1002/ana.23701 pubmed: 23280837 pmcid: 4085146

Kollo M, Holderith NB, Nusser Z. Novel subcellular distribution pattern of A-type K+ channels on neuronal surface. J Neurosci. 2006;26:2684–91.

doi: 10.1523/JNEUROSCI.5257-05.2006 pubmed: 16525047 pmcid: 1558001

Bushart DD, Shakkottai VG. Ion channel dysfunction in cerebellar ataxia. Neurosci Lett. 2019;688:41–8.

doi: 10.1016/j.neulet.2018.02.005 pubmed: 29421541

Pollini L, Galosi S, Tolve M, Caputi C, Carducci C, Angeloni A, et al. KCND3-related neurological disorders: from old to emerging clinical phenotypes. Int J Mol Sci. 2020;21:5802.

doi: 10.3390/ijms21165802 pubmed: 32823520 pmcid: 7461103

Zanni G, Hsiao CT, Fu SJ, Tang CY, Capuano A, Bosco L, et al. Novel KCND3 variant underlying nonprogressive congenital ataxia or SCA19/22 disrupt KV4.3 protein expression and K+ currents with variable effects on channel properties. Int J Mol Sci. 2021;22:4986.

doi: 10.3390/ijms22094986 pubmed: 34067185 pmcid: 8125845

Tomlinson SE, Rajakulendran S, Tan SV, Graves TD, Bamiou DE, Labrum RW, et al. Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1. J Neurol Neurosurg Psychiatry. 2013;84:1107–12.

doi: 10.1136/jnnp-2012-304131 pubmed: 23349320

Benarroch E. What is the role of potassium channels in ataxia? Neurology. 2021;97:938–42.

doi: 10.1212/WNL.0000000000012870 pubmed: 34782409

Rajakulendran S, Schorge S, Kullmann DM, Hanna MG. Episodic ataxia type 1: a neuronal potassium channelopathy. Neurotherapeutics. 2007;4:258–66.

doi: 10.1016/j.nurt.2007.01.010 pubmed: 17395136

D’Adamo MC, Liu Z, Adelman JP, Maylie J, Pessia M. Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel. EMBO J. 1998;17:1200–7.

doi: 10.1093/emboj/17.5.1200 pubmed: 9482717 pmcid: 1170468

Manville RW, Alfredo Freites J, Sidlow R, Tobias DJ, Abbott GW. Native American ataxia medicines rescue ataxia-linked mutant potassium channel activity via binding to the voltage sensing domain. Nat Commun. 2023;14:3281.

doi: 10.1038/s41467-023-38834-6 pubmed: 37280215 pmcid: 10244465

Oliver KL, Franceschetti S, Milligan CJ, Muona M, Mandelstam SA, Canafoglia L, et al. Myoclonus epilepsy and ataxia due to KCNC1 mutation: analysis of 20 cases and K

doi: 10.1002/ana.24929 pubmed: 28380698

Barot N, Margiotta M, Nei M, Skidmore C. Progressive myoclonic epilepsy: myoclonic epilepsy and ataxia due to KCNC1 mutation (MEAK): a case report and review of the literature. Epileptic Disord. 2020;22:654–8.

doi: 10.1684/epd.2020.1197 pubmed: 32972906

Du X, Carvalho-de-Souza JL, Wei C, Carrasquel-Ursulaez W, Lorenzo Y, Gonzalez N, et al. Loss-of-function BK channel mutation causes impaired mitochondria and progressive cerebellar ataxia. Proc Natl Acad Sci U S A. 2020;117:6023–34.

doi: 10.1073/pnas.1920008117 pubmed: 32132200 pmcid: 7084159

Chopra R, Bushart DD, Shakkottai VG. Dendritic potassium channel dysfunction may contribute to dendrite degeneration in spinocerebellar ataxia type 1. PLoS One. 2018;13: e0198040.

doi: 10.1371/journal.pone.0198040 pubmed: 29847609 pmcid: 5976172

Quiñonez M, DiFranco M, Wu F, Cannon SC. Retigabine suppresses loss of force in mouse models of hypokalaemic periodic paralysis. Brain. 2023;146:1554–60.

doi: 10.1093/brain/awac441 pubmed: 36718088 pmcid: 10115351

Shah NH, Aizenman E. Voltage-gated potassium channels at the crossroads of neuronal function, ischemic tolerance, and neurodegeneration. Transl Stroke Res. 2014;5:38–58.

doi: 10.1007/s12975-013-0297-7 pubmed: 24323720

D’Adamo MC, Liantonio A, Rolland JF, Pessia M, Imbrici P. Kv1.1 Channelopathies: pathophysiological mechanisms and therapeutic approaches. Int J Mol Sci. 2020;21:2935.

doi: 10.3390/ijms21082935 pubmed: 32331416 pmcid: 7215777

Jen JC, Yue Q, Karrim J, Nelson SF, Baloh RW. Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia. J Neurol Neurosurg Psychiatry. 1998;65:565–8.

doi: 10.1136/jnnp.65.4.565 pubmed: 9771787 pmcid: 2170265

Yabe I, Sasaki H, Yamashita I, Takei A, Tashiro K. Clinical trial of acetazolamide in SCA6, with assessment using the Ataxia Rating Scale and body stabilometry. Acta Neurol Scand. 2001;104:44–7.

doi: 10.1034/j.1600-0404.2001.00299.x pubmed: 11442442

Bushart DD, Huang H, Man LJ, Morrison LM, Shakkottai VG. A chlorzoxazone-baclofen combination improves cerebellar impairment in spinocerebellar ataxia type 1. Mov Disord. 2021;36:622–31.

doi: 10.1002/mds.28355 pubmed: 33151010

Cui M, Qin G, Yu K, Bowers MS, Zhang M. Targeting the small- and intermediate-conductance Ca-activated potassium channels: the drug-binding pocket at the channel/calmodulin interface. Neurosignals. 2014;22:65–78.

doi: 10.1159/000367896 pubmed: 25300231

Bushart DD, Chopra R, Singh V, Murphy GG, Wulff H, Shakkottai VG. Targeting potassium channels to treat cerebellar ataxia. Ann Clin Transl Neurol. 2018;5:297–314.

doi: 10.1002/acn3.527 pubmed: 29560375 pmcid: 5846455

Egorova PA, Bezprozvanny IB. Electrophysiological studies support utility of positive modulators of SK channels for the treatment of spinocerebellar ataxia type 2. Cerebellum. 2022;21(5):742–9.

doi: 10.1007/s12311-021-01349-1 pubmed: 34978024

Coarelli G, Heinzmann A, Ewenczyk C, Fischer C, Chupin M, Monin ML, et al. Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial. Lancet Neurol. 2022;21:225–33.

doi: 10.1016/S1474-4422(21)00457-9 pubmed: 35063116

Romano S, Coarelli G, Marcotulli C, Leonardi L, Piccolo F, Spadaro M, et al. Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial. Lancet Neurol. 2015;14:985–91.

doi: 10.1016/S1474-4422(15)00201-X pubmed: 26321318

Ristori G, Romano S, Visconti A, Cannoni S, Spadaro M, Frontali M, et al. Riluzole in cerebellar ataxia: a randomized, double-blind, placebo-controlled pilot trial. Neurology. 2010;74:839–45.

doi: 10.1212/WNL.0b013e3181d31e23 pubmed: 20211908

Wulff H, Christophersen P. Recent developments in ion channel pharmacology. Channels. 2015;9:335.

doi: 10.1080/19336950.2015.1077650 pubmed: 26646476 pmcid: 4850044