Immunohistochemical Characterization of Facioscapulohumeral Muscular Dystrophy Muscle Biopsies

Journal of Neuromuscular Diseases
Jeffrey M StatlandRabi Tawil

Abstract

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. To determine the histopathological changes in FSHD muscle biopsies and compare to possible pathological mechanisms of disease. 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. 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. Preliminary evidence for increased apoptosis rates and reduced capillary density may reflect histopathological correlates of disease ...Continue Reading

References

Aug 1, 1997·Neuropathology and Applied Neurobiology·D S Tews, H H Goebel
Nov 24, 1999·The Journal of Clinical Endocrinology and Metabolism·P A KernM Fournier
Oct 2, 2003·Human Molecular Genetics·Sara T WinokurKevin M Flanigan
Sep 24, 2005·Annals of Neurology·Petra G M van OverveldSilvère M van der Maarel
Aug 29, 2006·Neuromuscular Disorders : NMD·Laurence A BindoffIrene D Haggerty
Jun 26, 2007·Neuromuscular Disorders : NMD·Valeria KowaljowAlberto L Rosa
Oct 30, 2007·BMC Biology·Peter W H HollandElspeth A Bruford
May 15, 2010·Cell and Tissue Research·Michael Kottlors, Janbernd Kirschner
Aug 21, 2010·Science·Richard J L F LemmersSilvère M van der Maarel
Oct 27, 2010·Neurology·J C de GreefR Tawil
Nov 10, 2010·PLoS Genetics·Lauren SniderDaniel G Miller
Oct 22, 2011·Journal of Applied Physiology·Michael I LewisJoel D Kopple
Sep 19, 2012·Proceedings of the National Academy of Sciences of the United States of America·Fedik RahimovKathryn R Wagner
Jan 1, 1995·Muscle & Nerve. Supplement·G W PadbergL A Sandkuijl

❮ Previous
Next ❯

Citations

Apr 7, 2020·The Journal of Clinical Investigation·Darko BosnakovskiMichael Kyba
Apr 7, 2020·The Journal of Clinical Investigation·Carlo Serra, Kathryn R Wagner
Jun 25, 2020·The Journal of Pharmacology and Experimental Therapeutics·L Alejandro RojasOwen Wallace
Aug 4, 2020·Human Molecular Genetics·Christopher R S BanerjiPeter S Zammit
Sep 11, 2020·Journal of Clinical Medicine·Laura Le GallJulie Dumonceaux

❮ Previous
Next ❯

Methods Mentioned

BETA
biopsies
biopsy

Software Mentioned

SAS
Metaview
STATA

Related Concepts

Related Feeds

Apoptosis

Apoptosis is a specific process that leads to programmed cell death through the activation of an evolutionary conserved intracellular pathway leading to pathognomic cellular changes distinct from cellular necrosis