# The role of TGF beta pathway dysregulation in pathogenesis of collagen VI-related muscular dystrophy

> **NIH NIH K22** · JOHNS HOPKINS UNIVERSITY · 2024 · $233,224

## Abstract

Project Summary/Abstract:  
 
Mutations in collagen VI cause a spectrum of muscle disease ranging from severe Ullrich congenital muscular 
dystrophy to the milder Bethlem myopathy.  The three protein components of collagen VI encoded by COL6A1, 
COL6A2, and COL6A3, undergo extensive assembly after translation before being excreted and incorporated 
into the extracellular matrix (ECM). Collagen VI is an integral component of the ECM, making collagen VI 
related dystrophies prototypical disorders of the muscle ECM.  However, how these mutations result in muscle 
weakness, atrophy, degeneration and fibrosis remains unknown and no specific therapies are available that 
can alter the natural history of this disease. In this study, we propose to characterize the histologic and 
functional changes in skeletal muscle of a new mouse model of collagen VI related dystrophies with 
homozygous deletion of the Col6a2 alleles, paying special attention to dysregulation of growth factor pathways 
associated with these changes. For the interventional phase of this study, we propose to test effectiveness of 
medications in treating the manifestation of disease in this animal model. This study will also provide funding 
for in depth training of an early career clinician scientist with prior neuromuscular medicine training to develop 
laboratory techniques and scientific skills to conduct translational research and pre-­clinical studies of animal 
models of muscular dystrophies.

## Key facts

- **NIH application ID:** 10896145
- **Project number:** 5K22NS104135-04
- **Recipient organization:** JOHNS HOPKINS UNIVERSITY
- **Principal Investigator:** Payam Mohassel
- **Activity code:** K22 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $233,224
- **Award type:** 5
- **Project period:** 2017-07-01 → 2025-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10896145

## Citation

> US National Institutes of Health, RePORTER application 10896145, The role of TGF beta pathway dysregulation in pathogenesis of collagen VI-related muscular dystrophy (5K22NS104135-04). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10896145. Licensed CC0.

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