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Stay CALM when the heart skips a beat

Researchers at Kyoto University have discovered a genetic mutation that causes lethal arrhythmia in humans. The study found that a novel variant of the CALM2 gene produces robust arrhythmogenicity in human-induced pluripotent stem cell-derived cardiomyocytes.

SourceKyoto University·JournalCirculation Arrhythmia and Electrophysiology·TypeExperimental study·DateApr 13, 2023

A heat-sensitive calcium channel gets positive feedback

Researchers at Osaka University discovered that mutant variants of the RyR1 calcium channel protein are more sensitive to heat than normal proteins, leading to a cycle of activation that can cause malignant hyperthermia. This finding provides new insight into the condition and could lead to preventive and treatment strategies.

SourceOsaka University·JournalProceedings of the National Academy of Sciences·TypeExperimental study·DateAug 8, 2022

Long-suspected turbocharger for memory found in brain cells of mice

Scientists at Columbia University's Zuckerman Institute have discovered that floods of calcium originating from within neurons can boost learning and recall. The finding sheds light on the mechanisms underlying learning and memory, potentially providing new insights into Alzheimer's disease.

SourceColumbia University·JournalScience·TypeExperimental study·DateMar 17, 2022
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What's at the 'heart' of a heartbeat?

Atrial fibrillation is a major concern due to its association with serious complications like heart failure and stroke. Researchers have identified a new piece of the puzzle that has changed the field's understanding of the molecular mechanisms leading to atrial fibrillation, involving a phosphatase regulatory subunit known as PPP1R3A.

SourceBaylor College of Medicine·JournalCirculation·DateAug 20, 2019

Mutations, CRISPR, and the biology behind movement disorders

Scientists discovered how mutations in the IP3R1 protein contribute to degenerative movements disorders like spinocerebellar ataxias. By disrupting calcium release, these mutations impair motor control and lead to cerebellum dysfunction.

SourceRIKEN·JournalProceedings of the National Academy of Sciences·DateNov 12, 2018

Understanding heart failure at the cellular level

A team of researchers used a multidisciplinary approach to study the effects of heart failure on electrical activity and calcium release in heart cells. They found increased variability in Ca2+ transient kinetics, indicating an uncoupling between membrane depolarization and Ca2+-release.

SourceAmerican Institute of Physics·DateFeb 18, 2014
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Researchers explain mechanism behind rare muscle disorders

Mutations in RYR1 lead to calcium release channel dysfunction, causing dominant-negative effect that reduces muscle force generation. The study provides a comprehensive analysis of the consequences of this mutation in muscle fibers.

SourceRockefeller University Press·JournalJournal of General Physiology·DateDec 13, 2010
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