Pathogenic CaV1.1 Variants Cause Hyperpolarizing Shift of Depolarization-Induced Ca2+ Release in Malignant Hyperthermia Susceptibility
Takashi Murayama, Takuro Numaga-Tomita, Hirotsugu Miyoshi, Tsuyoshi Ikeda, Keiko Mukaida, Takuya Kobayashi, Nagomi Kurebayashi, Tsutomu Nakada, Taichiro Tomida, Satomi Adachi-Akahane, Yasuo M. Tsutsumi, Mitsuhiko Yamada, Takashi Sakurai · 2026
Read Pathogenic CaV1.1 Variants Cause Hyperpolarizing Shift of Depolarization-Induced Ca2+ Release in Malignant Hyperthermia Susceptibility by Takashi Murayama, Takuro Numaga-Tomita, Hirotsugu Miyoshi, Tsuyoshi Ikeda, Keiko Mukaida, Takuya Kobayashi, Nagomi Kurebayashi, Tsutomu Nakada, Taichiro Tomida, Satomi Adachi-Akahane, Yasuo M. Tsutsumi, Mitsuhiko Yamada, Takashi Sakurai (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13221468.txt.
Description
Takashi Murayama and colleagues examine four newly found variants in a muscle calcium channel tied to malignant hyperthermia, in a 2026 study. The disorder can kill when certain anesthetics trigger runaway calcium release in skeletal muscle. Most cases involve a different channel, so CaV1.1 variants need functional proof before they count as causes.
Rebuilt release systems in cultured cells let the team test each variant. Two variants made calcium release trigger at lower voltages, heightened caffeine response, and shifted voltage sensing. That hyperpolarizing shift explains the calcium dysregulation for those two. The work sharpens genetic counseling for families facing anesthesia risk.
Catalog record
| CREATOR | Takashi Murayama, Takuro Numaga-Tomita, Hirotsugu Miyoshi, Tsuyoshi Ikeda, Keiko Mukaida, Takuya Kobayashi, Nagomi Kurebayashi, Tsutomu Nakada, Taichiro Tomida, Satomi Adachi-Akahane, Yasuo M. Tsutsumi, Mitsuhiko Yamada, Takashi Sakurai |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 45 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |