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Related Experiment Video

Updated: Jun 10, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Channelopathies: decoding disease pathogenesis.

Andre Terzic¹, Carmen Perez-Terzic

¹Division of Cardiovascular Diseases, Department of Medicine, Mayo Clinic, Rochester, MN 55905, USA. terzic.andre@mayo.edu

Science Translational Medicine

|July 30, 2010

Summary

Researchers studied adenosine triphosphate (ATP)-sensitive potassium (K(ATP)) channels to understand life-threatening diseases. Humanized mouse models revealed how K(ATP) channel mutations cause tissue-specific damage, advancing personalized medicine.

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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Published on: August 8, 2022

Area of Science:

Molecular Biology
Genetics
Personalized Medicine

Background:

Individualized medicine translates patient-specific molecular mechanisms into tailored treatments.
Dysfunction in adenosine triphosphate (ATP)-sensitive potassium (K(ATP)) channels underlies severe human diseases.
Understanding K(ATP) channel pathobiology is crucial for developing targeted therapies.

Purpose of the Study:

To investigate the molecular mechanisms of K(ATP) channelopathies.
To utilize humanized mouse models to study pathogenic K(ATP) channel mutations.
To identify tissue-specific lesions associated with genetic variations in K(ATP) channels.

Main Methods:

Development and use of humanized mouse models.
Recapitulation of pathogenic K(ATP) channel mutations in vivo.
Analysis of tissue-restricted lesions and their impact on disease traits.

Main Results:

Successfully recapitulated a pathogenic K(ATP) channel mutation in humanized mouse models.
Identified tissue-specific lesions resulting from the mutation.
Demonstrated how genetic variation in K(ATP) channels stratifies disease consequences.

Conclusions:

Advances in K(ATP) channel molecular medicine provide new diagnostic and therapeutic avenues.
The study highlights the potential for personalized diagnosis and therapy in K(ATP) channelopathies.
Understanding tissue-specific effects of mutations is key to personalized treatment strategies.