National Institute of Arthritis and Musculoskeletal and Skin Diseases 5R01AR063182-13

Disease Pathogenesis and Modification for CaV1.1-Associated Hypokalemic Periodic Paralysis

This NIH-funded project by University of California Los Angeles focuses on understanding and treating Hypokalemic periodic paralysis through pharmacological and gene editing strategies targeting mutant CaV1.1 channels to improve clinical management and muscle function.

Description

Hypokalemic periodic paralysis (HypoPP) is a rare inherited disorder of skeletal muscle characterized by recurrent episodes of severe weakness and risk of progressive weakness leading to loss of ambulation. The disorder is caused by mutations in calcium channel or sodium channel genes, with a shared defect involving anomalous gating pore leakage current. This project aims to develop pharmacological and gene editing approaches to improve clinical management of HypoPP, including blocking gating pore leaks and stabilizing muscle excitability.

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