# Molecular basis of telomere dysfunction in cardiac dystrophy

> **NIH NIH R01** · UNIVERSITY OF PENNSYLVANIA · 2022 · $401,115

## Abstract

Project Summary/Abstract
Duchenne Muscular Dystrophy (DMD) is the most common childhood form of muscular dystrophy and arises
from mutations in the dystrophin gene. DMD is associated with early loss of ambulation and respiratory muscle
compromise, followed by the onset of cardiac complications. Although cardiomyopathy is a major cause of
death in DMD patients, most therapeutic interventions have focused on skeletal muscle therapies. We recently
showed that telomere dysfunction in conjunction with the dystrophin mutation leads to significant structural and
functional cardiac defects in mice, with all of the hallmarks seen in DMD patients. The studies proposed here
will investigate telomere induced foci in dystrophic cardiomyocytes (Aim 1), identify the role of unknown
telomeric mechanisms leading to cardiac failure (Aim 2) and determine the extra-telomeric function of a
telomere protein (Aim 3). Understanding the mechanism acting in the progression of cardiac dystrophy will
provide new therapeutic possibilities. These studies will also form the foundation for future investigation of
similar telomeric mechanisms in other cardiovascular diseases.

## Key facts

- **NIH application ID:** 10450879
- **Project number:** 5R01HL146662-04
- **Recipient organization:** UNIVERSITY OF PENNSYLVANIA
- **Principal Investigator:** Foteini Mourkioti
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $401,115
- **Award type:** 5
- **Project period:** 2019-08-01 → 2024-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10450879

## Citation

> US National Institutes of Health, RePORTER application 10450879, Molecular basis of telomere dysfunction in cardiac dystrophy (5R01HL146662-04). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10450879. Licensed CC0.

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