Počet záznamů: 1
Electrophysiological and computational analysis of Cav3.2 channel variants associated with familial trigeminal neuralgia
- 1.
SYSNO ASEP 0564838 Druh ASEP J - Článek v odborném periodiku Zařazení RIV J - Článek v odborném periodiku Poddruh J Článek ve WOS Název Electrophysiological and computational analysis of Cav3.2 channel variants associated with familial trigeminal neuralgia Tvůrce(i) Mustafa, E. R. (CZ)
Gambeta, E. (CA)
Stringer, Robin Nicholas (UOCHB-X)
Souza, I. A. (CA)
Zamponi, G. W. (CA)
Weiss, N. (CZ)Číslo článku 91 Zdroj.dok. Molecular Brain. - : BioMed Central
Roč. 15, č. 1 (2022)Poč.str. 14 s. Jazyk dok. eng - angličtina Země vyd. GB - Velká Británie Klíč. slova trigeminal neuralgia ; ion channel ; calcium channel ; CACNA1H ; Cav3 ; 2 channel ; channelopathy Obor OECD Biochemistry and molecular biology Způsob publikování Open access Institucionální podpora UOCHB-X - RVO:61388963 UT WOS 000885014200002 EID SCOPUS 85142124822 DOI 10.1186/s13041-022-00978-9 Anotace Trigeminal neuralgia (TN) is a rare form of chronic neuropathic pain characterized by spontaneous or elicited paroxysms of electric shock-like or stabbing pain in a region of the face. While most cases occur in a sporadic manner and are accompanied by intracranial vascular compression of the trigeminal nerve root, alteration of ion channels has emerged as a potential exacerbating factor. Recently, whole exome sequencing analysis of familial TN patients identified 19 rare variants in the gene CACNA1H encoding for Cav3.2T-type calcium channels. An initial analysis of 4 of these variants pointed to a pathogenic role. In this study, we assessed the electrophysiological properties of 13 additional TN-associated Cav3.2 variants expressed in tsA-201 cells. Our data indicate that 6 out of the 13 variants analyzed display alteration of their gating properties as evidenced by a hyperpolarizing shift of their voltage dependence of activation and/or inactivation resulting in an enhanced window current supported by Cav3.2 channels. An additional variant enhanced the recovery from inactivation. Simulation of neuronal electrical membrane potential using a computational model of reticular thalamic neuron suggests that TN-associated Cav3.2 variants could enhance neuronal excitability. Altogether, the present study adds to the notion that ion channel polymorphisms could contribute to the etiology of some cases of TN and further support a role for Cav3.2 channels. Pracoviště Ústav organické chemie a biochemie Kontakt asep@uochb.cas.cz ; Kateřina Šperková, Tel.: 232 002 584 ; Viktorie Chládková, Tel.: 232 002 434 Rok sběru 2023 Elektronická adresa https://doi.org/10.1186/s13041-022-00978-9
Počet záznamů: 1