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Cardiomyopathy III: Hypertrophic Cardiomyopathy

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...

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Quantitative Analysis of Chromatin Proteomes in Disease

Quantitative Analysis of Chromatin Proteomes in Disease

Published on: December 28, 2012

Global Proteomic Analysis Reveals Alterations in Differentially Expressed Proteins between Cardiopathic Lamin A/C

Corey L Anderson¹, Kyle A Brown², Ryan J North¹

¹Department of Medicine, Division of Cardiovascular Medicine, University of Wisconsin-Madison, Madison, Wisconsin 53705, United States.

Journal of Proteome Research

|May 8, 2024

Summary

Lamin A/C (LMNA) mutations cause varied heart disease severity. Proteomics revealed distinct cellular changes for different LMNA mutations, offering personalized treatment insights for cardiac laminopathies.

Keywords:

cardiomyopathy genetic disease lamin protein aggregation proteomics

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Published on: January 17, 2025

Area of Science:

Molecular Biology
Cardiovascular Research
Proteomics

Background:

Lamin A/C (LMNA) protein is crucial for nuclear lamina structure.
Mutations in LMNA lead to diverse cardiac conditions, including cardiomyopathy, heart failure, and sudden cardiac death.
The variability in LMNA mutation severity and onset is not well understood at the cellular level.

Purpose of the Study:

To investigate the cellular heterogeneity of LMNA-associated cardiomyopathy by comparing proteomic profiles of different LMNA variants.
To model the heterozygous state and represent diverse clinical LMNA mutations.
To identify mutation-specific downstream cellular effects for potential therapeutic targets.

Main Methods:

Overexpression of cardiopathic LMNA variants (Q353K, N195K, E317K) in HEK cells, including coexpression with wild-type (WT).
Quantitative proteomics to compare global protein expression profiles.
Bioinformatic analyses including differentially expressed proteins (DEPs), Gene Ontology (GO), and KEGG pathway analysis.
Functional validation using redox, autophagy, and apoptosis assays in HEK 293 cells and induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs).

Main Results:

A range of 162 to 324 DEPs were identified across different LMNA mutation models.
Distinct differences in GO terms, KEGG pathways, and DEPs were observed, highlighting mutation-specific cellular impacts.
Disrupted pathways were validated through functional assays, confirming the cellular consequences of LMNA mutations.
Proteomic profiles revealed mutation-specific downstream effects relevant to cardiac function.

Conclusions:

Proteomic analysis of LMNA variants reveals significant heterogeneity in cellular responses, explaining variability in cardiac laminopathies.
These findings provide a foundation for understanding mutation-specific pathology.
The identified proteomic signatures and disrupted pathways offer potential druggable targets for personalized medicine approaches in cardiac laminopathies.