Muscle Disease Modeling

Muscle disease modeling is the use of experimental systems to reproduce and study how genetic, cellular, or environmental abnormalities disrupt muscle structure and function. In developmental biology, researchers model these conditions with patient-derived cells, engineered tissues, organoids, or animals, then examine processes such as myoblast differentiation, muscle fiber formation, contraction, and disease-associated molecular changes. These models help connect developmental defects to clinical muscle disorders, reveal mechanisms of degeneration or impaired regeneration, and support evaluation of potential therapies. Improved models that more closely replicate human tissue may also strengthen drug testing and advance personalized approaches to diagnosis and treatment.

Muscle Disease Modeling - Related Videos

Research

JoVE Journal - Biology
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Tissue Triage and Freezing for Models of Skeletal Muscle Disease

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Cited by 98 •

2014

The analysis of skeletal muscle tissues to determine structural, functional, and biochemical properties is greatly facilitated by appropriate preparation. This protocol describes appropriate methods to prepare skeletal muscle tissue for a broad range of phenotyping studies.

Research

JoVE Journal - Medicine

Repeated Measurement of Respiratory Muscle Activity and Ventilation in Mouse Models of Neuromuscular Disease

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Cited by 8 •

2017

This paper introduces a method for repeated measurements of ventilation and respiratory muscle activity in a freely behaving amyotrophic lateral sclerosis (ALS) mouse model throughout disease progression with whole-body plethysmography and electromyography via an implanted telemetry device.

Examining Muscle Regeneration in Zebrafish Models of Muscle Disease

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Cited by 10 •

2021

Skeletal muscle regeneration is driven by tissue resident muscle stem cells, which are impaired in many muscle diseases such as muscular dystrophy, and this results in the inability of muscle to regenerate. Here, we describe a protocol that allows the examination of muscle regeneration in zebrafish models of muscle disease.

Isolation and Immortalization of Patient-derived Cell Lines from Muscle Biopsy for Disease Modeling

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Cited by 19 •

2015

This protocol describes techniques for live cell isolation and primary culture of myogenic and fibroblast cell lines from muscle or skin tissue. A technique for the immortalization of these cell lines is also described. Altogether, these protocols provide a reliable tool to generate and preserve patient-derived cells for downstream applications.

Quantitative Magnetic Resonance Imaging of Skeletal Muscle Disease

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Cited by 8 •

2016

Neuromuscular diseases often exhibit a temporally varying, spatially heterogeneous, and multi-faceted pathology. The goal of this protocol is to characterize this pathology using non-invasive magnetic resonance imaging methods.

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