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Updated: Apr 4, 2026
Immunolabelling Myofiber Degeneration in Muscle Biopsies
Published on: December 5, 2019
Immunohistochemical Characterization of Facioscapulohumeral Muscular Dystrophy Muscle Biopsies
Jeffrey M Statland1, Karen J Odrzywolski2, Bharati Shah2
1Department of Neurology, University of Kansas Medical Center, Kansas City, KS ; Department of Neurology, University of Rochester Medical Center, Rochester, NY.
Background:
Posited pathological mechanisms in Facioscapulohumeral Muscular Dystrophy (FSHD) include activation in somatic tissue of normally silenced genes, increased susceptibility to oxidative stress, and induction of apoptosis.
Objective:
To determine the histopathological changes in FSHD muscle biopsies and compare to possible pathological mechanisms of disease.
Methods:
We performed a cross-sectional study on quadriceps muscle biopsies from 32 genetically confirmed FSHD participants, compared to healthy volunteers and myotonic dystrophy type 1 as disease controls. Biopsies were divided into groups to evaluate apoptosis rates, capillary density, myonuclear and satellite cell counts.
Results:
Apoptosis rates were increased in FSHD (n=10, 0.74%) compared to myotonic dystrophy type 1 (n=10, 0.14%, P=0.003) and healthy volunteers (n=14, 0.13%, P=0.002). Apoptosis was higher in FSHD patients with the smallest residual D4Z4 fragments. Capillary density was decreased in FSHD1 (n=10, 316 capillaries/mm2) compared to healthy volunteers (n=15, 448 capillaries/mm2, P=0.001). No differences were seen in myonuclear or satellite cell counts.
Conclusions:
Preliminary evidence for increased apoptosis rates and reduced capillary density may reflect histopathological correlates of disease activity in FSHD. The molecular-pathological correlates to these changes warrants further investigation.
Insights
Facioscapulohumeral muscular dystrophy (FSHD) shows increased apoptosis and reduced capillary density in muscle tissue. These findings suggest potential histopathological markers of disease activity in FSHD patients.
Area of Science:
- Muscle pathology
- Neuromuscular disorders
- Genetics
Background:
- Facioscapulohumeral muscular dystrophy (FSHD) pathogenesis may involve gene activation, oxidative stress, and apoptosis.
- Understanding these mechanisms is crucial for developing targeted therapies.
Purpose of the Study:
- To investigate histopathological changes in FSHD muscle biopsies.
- To correlate observed changes with proposed disease mechanisms.
Main Methods:
- Cross-sectional study of quadriceps muscle biopsies from 32 FSHD participants.
- Comparison with healthy volunteers and myotonic dystrophy type 1 controls.
- Evaluation of apoptosis rates, capillary density, myonuclear, and satellite cell counts.
Main Results:
- Increased apoptosis rates in FSHD (0.74%) versus controls (0.13-0.14%, P<0.003).
- Apoptosis correlated with smaller D4Z4 fragment sizes in FSHD.
- Decreased capillary density in FSHD (316/mm²) compared to healthy controls (448/mm², P=0.001).
- No significant differences in myonuclear or satellite cell counts.
Conclusions:
- Elevated apoptosis and reduced capillary density in FSHD muscle biopsies suggest histopathological correlates of disease activity.
- Further research is needed to elucidate the molecular underpinnings of these observed changes.
