Related Experiment Video
Updated: Sep 3, 2025
Isometric and Eccentric Force Generation Assessment of Skeletal Muscles Isolated from Murine Models of Muscular Dystrophies
Published on: January 31, 2013
Structural and ultrastructural changes in the skeletal muscles of dysferlin-deficient mice during postnatal
O N Chernova1,2, I A Chekmareva3, M O Mavlikeev4
1Human Morphology Department, North-Western State Medical University named after I.I. Mechnikov, Saint-Petersburg, Russian Federation.
Abstract:
A number of sarcolemma proteins are responsible for muscle fiber repair. Dysferlin encoded by the DYSF gene is one of these proteins. Dysferlin promotes membrane repair in striated muscle fibers (MFs). Mutations in DYSF lead to loss of or decreased dysferlin expression, impaired membrane repair in MF, and its destruction, clinically manifesting as dysferlinopathy. Preclinical studies of cell and gene therapies aimed at restoring impaired muscle regeneration require well-characterized small animal models. Our investigation aimed to distinguish the histopathological features of a mouse strain lacking dysferlin expression (Bla/J strain). Ultrastructural changes in the sarcolemma, mitochondria and contractile apparatus were observed. It was shown that postnatal histogenesis of skeletal muscles in genetically determined dysferlin deficiency is characterized by a higher proportion of necrotic muscle fibers, compensatory hypertrophy of muscle fibers with their subsequent atrophy, and decreases in proliferative activity and the level of myogenic differentiation of myogenic progenitor cells compared to wild-type mice (C57Bl/6).
Insights
Mice lacking dysferlin show impaired muscle fiber repair and regeneration. This study details the unique histopathological features of the Bla/J mouse model for dysferlinopathy research.
Area of Science:
- Biomedical Science
- Muscle Biology
- Genetics
Background:
- Sarcolemma proteins are crucial for muscle fiber repair.
- Dysferlin, encoded by the DYSF gene, is vital for membrane repair in striated muscle fibers.
- DYSF mutations cause dysferlinopathy due to impaired muscle membrane repair and fiber destruction.
Purpose of the Study:
- To characterize the histopathological features of the Bla/J mouse strain, which lacks dysferlin expression.
- To identify ultrastructural changes in muscle fibers of this model.
- To provide a well-characterized small animal model for preclinical studies of cell and gene therapies for dysferlinopathy.
Main Methods:
- Histopathological analysis of skeletal muscles in Bla/J mice.
- Ultrastructural examination of sarcolemma, mitochondria, and contractile apparatus.
- Comparison with wild-type C57Bl/6 mice.
Main Results:
- Bla/J mice exhibit a higher proportion of necrotic muscle fibers postnatally.
- Compensatory hypertrophy of muscle fibers is followed by subsequent atrophy.
- Reduced proliferative activity and myogenic differentiation of progenitor cells were observed.
Conclusions:
- The Bla/J mouse strain presents distinct histopathological characteristics of dysferlin deficiency.
- These findings highlight the utility of this model for studying muscle regeneration and therapeutic interventions.
- Understanding these features is essential for advancing research into dysferlinopathies.
More Related Videos
08:07Single Myofiber Isolation and Culture from a Murine Model of Emery-Dreifuss Muscular Dystrophy in Early Post-Natal Development
Published on: July 1, 2020
06:52Behavioral and Locomotor Measurements Using an Open Field Activity Monitoring System for Skeletal Muscle Diseases
Published on: September 29, 2014
