Yuta Okabe : “Mouse Model Gene Discovery: Lethal Arrhythmia”

By | May 15, 2024

By Trend News Line 2024-05-15 15:17:03.

**University of Tsukuba Researchers Discover Mouse Pedigree with Inherited Ventricular Arrhythmia**

In a groundbreaking discovery, a research group led by the University of Tsukuba has identified a mouse pedigree exhibiting spontaneous sudden cardiac death due to inherited ventricular arrhythmia. This significant finding was made possible through electrocardiographic screening of a large-scale, randomly mutagenized mouse library.

**Identification of Causative Mutation in Ryanodine Receptor 2**

The researchers pinpointed a novel missense mutation in the ryanodine receptor 2 (RyR2) as the underlying cause of sudden cardiac death in these mice. This discovery, detailed in the journal Proceedings of the National Academy of Sciences, is poised to advance our understanding of ventricular arrhythmias and sudden cardiac death, paving the way for the development of innovative therapies.

**Genetic Abnormalities and Inherited Arrhythmias**

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Inherited arrhythmias, a serious condition stemming from genetic abnormalities in ion channels and related molecules that regulate cardiomyocyte electrical activity, can lead to fatal arrhythmias and sudden cardiac death. Despite significant progress in identifying causative molecules and mechanisms, effective treatments remain elusive.

**Urgent Need for Enhanced Treatment and Prevention Methods**

With the prevalence of inherited arrhythmias among young individuals, there is a pressing need for more effective treatment and prevention methods. The development of disease models can play a crucial role in advancing strategies to combat this life-threatening disorder.

**Investigating the Pathogenesis of Inherited Arrhythmias**

To delve deeper into the pathogenesis of inherited arrhythmias, researchers conducted electrocardiographic screening within a large-scale mouse library with random genetic mutations. This led to the establishment of a mouse pedigree displaying inherited arrhythmias that spontaneously progress to lethal arrhythmias.

**Contribution of Genetic Analysis and Mouse Model**

Through genetic analysis, the researchers identified a novel missense mutation in the ryanodine receptor 2 (RyR2: p.I4093V) as the causative gene. This mouse model, exhibiting severe symptoms of age-related cardiac function decline and sudden cardiac death within the first year of life, is expected to provide valuable insights into inherited arrhythmia pathogenesis and drug efficacy assessment.

**More Information and Acknowledgements**

For further information on this groundbreaking research, readers can refer to the study published in Proceedings of the National Academy of Sciences. The University of Tsukuba played a pivotal role in this discovery, highlighting the importance of collaborative efforts in advancing scientific knowledge.

As researchers continue to unravel the complexities of inherited arrhythmias, this discovery marks a significant milestone in the quest for improved treatments and prevention methods. Stay tuned for more updates on this evolving research..

Researchers identify causative gene in mouse model of inherited lethal arrhythmia

Mouse model of inherited lethal arrhythmia causative gene Researchers identify.

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