Related Experiment Video
Updated: Nov 10, 2025

Isolation, Culture, and Functional Characterization of Adult Mouse Cardiomyoctyes
Published on: September 24, 2013
NMRK2 Gene Is Upregulated in Dilated Cardiomyopathy and Required for Cardiac Function and NAD Levels during Aging
Cynthia Tannous1,2,3, Robin Deloux1, Ahmed Karoui1
1Inserm Unit UMR-S 1180 CARPAT, Faculty of Pharmacy, Université Paris-Saclay, 92296 Châtenay-Malabry, France.
Abstract:
Dilated cardiomyopathy (DCM) is a disease of multifactorial etiologies, the risk of which is increased by male sex and age. There are few therapeutic options for patients with DCM who would benefit from identification of common targetable pathways. We used bioinformatics to identify the Nmrk2 gene involved in nicotinamide adenine dinucleotde (NAD) coenzyme biosynthesis as activated in different mouse models and in hearts of human patients with DCM while the Nampt gene controlling a parallel pathway is repressed. A short NMRK2 protein isoform is also known as muscle integrin binding protein (MIBP) binding the α7β1 integrin complex. We investigated the cardiac phenotype of Nmrk2-KO mice to establish its role in cardiac remodeling and function. Young Nmrk2-KO mice developed an eccentric type of cardiac hypertrophy in response to pressure overload rather than the concentric hypertrophy observed in controls. Nmrk2-KO mice developed a progressive DCM-like phenotype with aging, associating eccentric remodeling of the left ventricle and a decline in ejection fraction and showed a reduction in myocardial NAD levels at 24 months. In agreement with involvement of NMRK2 in integrin signaling, we observed a defect in laminin deposition in the basal lamina of cardiomyocytes leading to increased fibrosis at middle age. The α7 integrin was repressed at both transcript and protein level at 24 months. Nmrk2 gene is required to preserve cardiac structure and function, and becomes an important component of the NAD biosynthetic pathways during aging. Molecular characterization of compounds modulating this pathway may have therapeutic potential.
Insights
The Nmrk2 gene is crucial for maintaining heart structure and function, particularly as we age. Its deficiency leads to dilated cardiomyopathy (DCM)-like symptoms and reduced NAD levels, suggesting potential therapeutic targets.
Area of Science:
- Cardiovascular Biology
- Molecular Cardiology
- Biochemistry
Background:
- Dilated cardiomyopathy (DCM) is a complex heart disease with limited treatment options.
- Identifying common molecular pathways is essential for developing new therapies for DCM.
- Male sex and advanced age are known risk factors for DCM.
Purpose of the Study:
- To investigate the role of the Nmrk2 gene in cardiac remodeling and function.
- To explore Nmrk2's involvement in nicotinamide adenine dinucleotide (NAD) biosynthesis and its relation to DCM.
- To assess the therapeutic potential of targeting the Nmrk2-mediated pathway.
Main Methods:
- Bioinformatic analysis to identify key genes in DCM.
- Generation and characterization of Nmrk2-knockout (Nmrk2-KO) mouse models.
- Assessment of cardiac phenotype, including hypertrophy, remodeling, and ejection fraction.
- Measurement of myocardial NAD levels and analysis of extracellular matrix components.
Main Results:
- Nmrk2-KO mice exhibited eccentric cardiac hypertrophy under pressure overload.
- Aged Nmrk2-KO mice developed a progressive DCM-like phenotype with impaired cardiac function.
- Reduced myocardial NAD levels and defective laminin deposition were observed in Nmrk2-KO mice.
- The α7 integrin signaling pathway was found to be repressed in Nmrk2-KO hearts.
Conclusions:
- The Nmrk2 gene is essential for preserving cardiac structure and function, especially during aging.
- Nmrk2 plays a significant role in NAD biosynthesis pathways within the aging heart.
- Targeting compounds that modulate the Nmrk2 pathway may offer therapeutic benefits for DCM.
Related Concept Videos
Cardiomyopathy II: Dilated Cardiomyopathy
Heart Failure II: Pathophysiology
Cardiomyopathy III: Hypertrophic Cardiomyopathy

