Article
Multiple beta cell-independent mechanisms drive hypoglycemia in Timothy syndrome.
Nature communications - 17 Oct 2024
Matsui Maiko, Lynch Lauren E, Distefano Isabella, Galante Allison, Gade Aravind R, Wang Hong-Gang, Gómez-Banoy Nicolas, Towers Patrick, Sinden Daniel S, Wei Eric Q, Barnett Adam S, Johnson Kenneth, Lima Renan, Rubio-Navarro Alfonso, Li Ang K, Marx Steven O, McGraw Timothy E, Thornton Paul S, Timothy Katherine W, Lo James C, Pitt Geoffrey S
Abstract excerpt
The canonical G406R mutation that increases Ca2+ influx through the CACNA1C-encoded CaV1.2 Ca2+ channel underlies the multisystem disorder Timothy syndrome (TS), characterized by life-threatening arrhythmias. Severe episodic hypoglycemia is among the poorly characterized non-cardiac TS pathologies. While hypothesized from increased Ca2+ influx in pancreatic beta cells and consequent hyperinsulinism, this...
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