Key result
Facioscapulohumeral Muscular Dystrophy was associated with increased muscle apoptosis rates (0.74% vs 0.13%, P=0.002) and reduced capillary density (316 vs 448 capillaries/mm2, P=0.001).
Cross-Sectional (n=32)
Absolute Event Rate: 0.74% vs 0.13%
p-value: p=0.002
FSHD muscle biopsies show increased apoptosis rates and reduced capillary density, which may reflect histopathological correlates of disease activity.
May reflect active FSHD processes; leaves open whether apoptosis or capillary loss are modifiable targets.
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/mm 2 ) compared to healthy volunteers (n = 15, 448 capillaries/mm 2 , 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.
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Statland et al. (2015) conducted a cross-sectional in Facioscapulohumeral Muscular Dystrophy (FSHD) (n=32). Facioscapulohumeral Muscular Dystrophy vs. Healthy volunteers and myotonic dystrophy type 1 was evaluated on Apoptosis rates (p=0.002). Facioscapulohumeral Muscular Dystrophy was associated with increased muscle apoptosis rates (0.74% vs 0.13%, P=0.002) and reduced capillary density (316 vs 448 capillaries/mm2, P=0.001).
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