Electrophysiological characterization of a Cav3.2 calcium channel missense variant associated with epilepsy and hearing loss
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61388963%3A_____%2F23%3A00576183" target="_blank" >RIV/61388963:_____/23:00576183 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11120/23:43926045 RIV/00216208:11110/23:10469111
Result on the web
<a href="https://doi.org/10.1186/s13041-023-01058-2" target="_blank" >https://doi.org/10.1186/s13041-023-01058-2</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1186/s13041-023-01058-2" target="_blank" >10.1186/s13041-023-01058-2</a>
Alternative languages
Result language
angličtina
Original language name
Electrophysiological characterization of a Cav3.2 calcium channel missense variant associated with epilepsy and hearing loss
Original language description
T-type calcium channelopathies encompass a group of human disorders either caused or exacerbated by mutations in the genes encoding different T-type calcium channels. Recently, a new heterozygous missense mutation in the CACNA1H gene that encodes the Cav3.2 T-type calcium channel was reported in a patient presenting with epilepsy and hearing loss—apparently the first CACNA1H mutation to be associated with a sensorineural hearing condition. This mutation leads to the substitution of an arginine at position 132 with a histidine (R132H) in the proximal extracellular end of the second transmembrane helix of Cav3.2. In this study, we report the electrophysiological characterization of this new variant using whole-cell patch clamp recordings in tsA-201 cells. Our data reveal minor gating alterations of the channel evidenced by a mild increase of the T-type current density and slower recovery from inactivation, as well as an enhanced sensitivity of the channel to external pH change. To what extend these biophysical changes and pH sensitivity alterations induced by the R132H mutation contribute to the observed pathogenicity remains an open question that will necessitate the analysis of additional CACNA1H variants associated with the same pathologies.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10608 - Biochemistry and molecular biology
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2023
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Molecular Brain
ISSN
1756-6606
e-ISSN
1756-6606
Volume of the periodical
16
Issue of the periodical within the volume
1
Country of publishing house
GB - UNITED KINGDOM
Number of pages
5
Pages from-to
68
UT code for WoS article
001070896600001
EID of the result in the Scopus database
2-s2.0-85171856530