TY - JOUR
T1 - Skeletal muscle morphology, protein synthesis and gene expression in Ehlers Danlos Syndrome
AU - Nygaard, Rie H
AU - Jensen, Jacob K
AU - Voermans, Nicol C
AU - Heinemeier, Katja Maria
AU - Schjerling, Peter
AU - Holm, Lars
AU - Agergaard, Jakob
AU - Mackey, Abigail Louise
AU - Andersen, Jesper Løvind
AU - Remvig, Lars
AU - Kjaer, Michael
N1 - Copyright © 2017, Journal of Applied Physiology.
PY - 2017/8/1
Y1 - 2017/8/1
N2 - Nygaard RH, Jensen JK, Voermans NC, Heinemeier KM, Schjerling P, Holm L, Agergaard J, Mackey AL, Andersen JL, Remvig L, Kjaer M. Skeletal muscle morphology, protein synthesis, and gene expression in Ehlers-Danlos syndrome. J Appl Physiol 123: 482– 488, 2017. First published June 8, 2017; doi:10.1152/japplphysiol.01044.2016.—Patients with Ehlers-Danlos syndrome (EDS) are known to have genetically impaired connective tissue and skeletal muscle symptoms in form of pain, fatigue, and cramps; however earlier studies have not been able to link these symptoms to morphological muscle changes. We obtained skeletal muscle biopsies in patients with classic EDS [cEDS; n = 5 (Denmark)+ 8 (The Netherlands)] and vascular EDS (vEDS; n = 3) and analyzed muscle fiber morphology and content (Western blotting and muscle fiber type/area distributions) and muscle mRNA expression and protein synthesis rate (RT-PCR and stable isotope technique). The cEDS patients did not differ from healthy controls (n = 7–11) with regard to muscle fiber type/area, myosin/α-actin ratio, muscle protein synthesis rate, or mRNA expression. In contrast, the vEDS patients demonstrated higher expression of matrix proteins compared with cEDS patients (fibronectin and MMP-2). The cEDS patients had surprisingly normal muscle morphology and protein synthesis, whereas vEDS patients demonstrated higher mRNA expression for extracellular matrix remodeling in skeletal musculature compared with cEDS patients. NEW & NOTEWORTHY This study is the first of its kind to systematically investigate muscle biopsies from Ehlers-Danlos patients, focusing on muscle structure and function. These patients suffer from severe muscle symptoms, but in our study they show surprisingly normal muscle findings, which points toward indirect muscle symptoms originating from the surrounding connective tissue. These findings have basal physiological importance and implications for future physiotherapeutic treatment options for these patients.
AB - Nygaard RH, Jensen JK, Voermans NC, Heinemeier KM, Schjerling P, Holm L, Agergaard J, Mackey AL, Andersen JL, Remvig L, Kjaer M. Skeletal muscle morphology, protein synthesis, and gene expression in Ehlers-Danlos syndrome. J Appl Physiol 123: 482– 488, 2017. First published June 8, 2017; doi:10.1152/japplphysiol.01044.2016.—Patients with Ehlers-Danlos syndrome (EDS) are known to have genetically impaired connective tissue and skeletal muscle symptoms in form of pain, fatigue, and cramps; however earlier studies have not been able to link these symptoms to morphological muscle changes. We obtained skeletal muscle biopsies in patients with classic EDS [cEDS; n = 5 (Denmark)+ 8 (The Netherlands)] and vascular EDS (vEDS; n = 3) and analyzed muscle fiber morphology and content (Western blotting and muscle fiber type/area distributions) and muscle mRNA expression and protein synthesis rate (RT-PCR and stable isotope technique). The cEDS patients did not differ from healthy controls (n = 7–11) with regard to muscle fiber type/area, myosin/α-actin ratio, muscle protein synthesis rate, or mRNA expression. In contrast, the vEDS patients demonstrated higher expression of matrix proteins compared with cEDS patients (fibronectin and MMP-2). The cEDS patients had surprisingly normal muscle morphology and protein synthesis, whereas vEDS patients demonstrated higher mRNA expression for extracellular matrix remodeling in skeletal musculature compared with cEDS patients. NEW & NOTEWORTHY This study is the first of its kind to systematically investigate muscle biopsies from Ehlers-Danlos patients, focusing on muscle structure and function. These patients suffer from severe muscle symptoms, but in our study they show surprisingly normal muscle findings, which points toward indirect muscle symptoms originating from the surrounding connective tissue. These findings have basal physiological importance and implications for future physiotherapeutic treatment options for these patients.
U2 - 10.1152/japplphysiol.01044.2016
DO - 10.1152/japplphysiol.01044.2016
M3 - Journal article
C2 - 28596275
SN - 8750-7587
VL - 123
SP - 482
EP - 488
JO - Journal of Applied Physiology
JF - Journal of Applied Physiology
IS - 2
ER -