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Immunohistochemical Characterization of FacioscapulohumeralMuscular Dystrophy Muscle Biopsies

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...

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Detalles Bibliográficos
Autores principales: Statland, Jeffrey M., Odrzywolski, Karen J., Shah, Bharati, Henderson, Don, Fricke, Alex F., van der Maarel, Silvére M., Tapscott, Stephen J., Tawil, Rabi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4560242/
https://www.ncbi.nlm.nih.gov/pubmed/26345300
http://dx.doi.org/10.3233/JND-150077
Descripción
Sumario: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.