Skeletal muscle morphology, protein synthesis and gene expression in Ehlers Danlos Syndrome
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Skeletal muscle morphology, protein synthesis and gene expression in Ehlers Danlos Syndrome. / Nygaard, Rie H; Jensen, Jacob K; Voermans, Nicol C; Heinemeier, Katja Maria; Schjerling, Peter; Holm, Lars; Agergaard, Jakob; Mackey, Abigail Louise; Andersen, Jesper Løvind; Remvig, Lars; Kjaer, Michael.
In: Journal of Applied Physiology, Vol. 123, No. 2, 08.2017, p. 482-488.Research output: Contribution to journal › Journal article › Research › peer-review
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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
Y1 - 2017/8
N2 - INTRODUCTION: Patients with Ehlers Danlos Syndrome 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.METHODS: 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).RESULTS: 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 to cEDS patients (fibronectin and MMP-2).DISCUSSION: 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 to cEDS patients.
AB - INTRODUCTION: Patients with Ehlers Danlos Syndrome 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.METHODS: 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).RESULTS: 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 to cEDS patients (fibronectin and MMP-2).DISCUSSION: 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 to cEDS patients.
U2 - 10.1152/japplphysiol.01044.2016
DO - 10.1152/japplphysiol.01044.2016
M3 - Journal article
C2 - 28596275
VL - 123
SP - 482
EP - 488
JO - Journal of Applied Physiology
JF - Journal of Applied Physiology
SN - 8750-7587
IS - 2
ER -
ID: 179216595