scholarly journals Chronic Treatment with a Broad-Spectrum Metalloproteinase Inhibitor, Doxycycline, Prevents the Development of Spontaneous Aortic Lesions in a Mouse Model of Vascular Ehlers-Danlos Syndrome

2012 ◽  
Vol 343 (1) ◽  
pp. 246-251 ◽  
Author(s):  
Hyun-Jin Tae ◽  
Shannon Marshall ◽  
Jing Zhang ◽  
Mingyi Wang ◽  
Wilfried Briest ◽  
...  
Keyword(s):  
Mouse Model ◽  
Broad Spectrum ◽  
Chronic Treatment ◽  
Ehlers Danlos Syndrome ◽  
Metalloproteinase Inhibitor ◽  
Danlos Syndrome ◽  
Aortic Lesions

scholarly journals Doxycycline Ameliorates the Susceptibility to Aortic Lesions in a Mouse Model for the Vascular Type of Ehlers-Danlos Syndrome

2011 ◽  
Vol 337 (3) ◽  
pp. 621-627 ◽  
Author(s):  
Wilfried Briest ◽  
Timothy K. Cooper ◽  
Hyun-Jin Tae ◽  
Melissa Krawczyk ◽  
Nazli B. McDonnell ◽  
...  
Keyword(s):  
Mouse Model ◽  
Ehlers Danlos Syndrome ◽  
Vascular Type ◽  
Danlos Syndrome ◽  
Aortic Lesions

scholarly journals First Mouse Model for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome

2014 ◽  
Vol 29 (6) ◽  
pp. 1412-1423 ◽  
Author(s):  
Frieda Chen ◽  
Ruolin Guo ◽  
Shousaku Itoh ◽  
Luisa Moreno ◽  
Esther Rosenthal ◽  
...  
Keyword(s):  
Mouse Model ◽  
Osteogenesis Imperfecta ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

scholarly journals Collagen V insufficiency in a mouse model for Ehlers Danlos-syndrome affects viscoelastic biomechanical properties explaining thin and brittle corneas

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Sabine Kling ◽  
Emilio A. Torres-Netto ◽  
Hormoz Abdshahzadeh ◽  
Edgar M. Espana ◽  
Farhad Hafezi
Keyword(s):  
Stress Relaxation ◽  
Mouse Model ◽  
Second Harmonic ◽  
Ambient Pressure ◽  
Biomechanical Properties ◽  
Clinical Findings ◽  
Ehlers Danlos Syndrome ◽  
Fibril Structure ◽  
Pressure Modulation ◽  
Danlos Syndrome

AbstractEhlers–Danlos syndrome (EDS) is a genetic disease leading to abnormalities in mechanical properties of different tissues. Here we quantify corneal biomechanical properties in an adult classic EDS mouse model using two different measurement approaches suited for murine corneal mechanical characterization and relate differences to stromal structure using Second Harmonic Generation (SHG) microscopy. Quasi-static Optical Coherence Elastography (OCE) was conducted non-invasively during ambient pressure modulation by − 3 mmHg. 2D-extensometry measurements was conducted invasively consisting of a pre-conditioning cycle, a stress-relaxation test and a rupture test. In a total of 28 eyes from a Col5a1+/− mouse model and wild-type C57BL/6 littermates (wt), Col5a1+/− corneas were thinner when compared to wt, (125 ± 11 vs 148 ± 10 μm, respectively, p < 0.001). Short-term elastic modulus was significantly increased in OCE (506 ± 88 vs 430 ± 103 kPa, p = 0.023), and the same trend was observed in 2D-extensometry (30.7 ± 12.1 kPa vs 21.5 ± 5.7, p = 0.057). In contrast, in stress relaxation tests, Col5a1+/− corneas experienced a stronger relaxation (55% vs 50%, p = 0.01). SHG microscopy showed differences in forward and backward scattered signal indicating abnormal collagen fibrils in Col5a1+/− corneas. We propose that disturbed collagen fibril structure in Col5a1+/− corneas affects the viscoelastic properties. Results presented here support clinical findings, in which thin corneas with global ultrastructural alterations maintain a normal corneal shape.

scholarly journals Comparative therapeutic strategies for preventing aortic rupture in a mouse model of vascular Ehlers Danlos syndrome

2021 ◽  
Author(s):  
Anne Legrand ◽  
Charline Guery ◽  
Julie Faugeroux ◽  
Erika Fontaine ◽  
Amelie Gianfermi ◽  
...  
Keyword(s):  
Survival Rate ◽  
Mouse Model ◽  
Aortic Rupture ◽  
Beta Blockers ◽  
Renin Angiotensin System ◽  
Type Iii Collagen ◽  
Ehlers Danlos Syndrome ◽  
Lower Survival Rate ◽  
Cell Stress Response ◽  
Danlos Syndrome

We created a knock-in Col3a1+/G182R mouse model with spontaneous mortality caused by thoracic aortic rupture that recapitulates a rare vascular genetic disease of type III collagen, the vascular Ehlers-Danlos syndrome (vEDS). Investigation of this model showed lower survival rate in males caused by aortic rupture, thin non-inflammatory arteries and altered arterial collagen. Transcriptomic analysis of aortas showed upregulation of genes related to inflammation and cell stress response. Compared to water, survival rate of Col3a1+/G182R mice was not affected by beta-blockers (propranolol or celiprolol). Two other vasodilating anti-hypertensive agents (hydralazine, amlodipine) gave opposite results on aortic rupture and mortality rate. There was a spectacular beneficial effect of losartan, reversed by the cessation of its administration, and a marked deleterious effect of exogenous angiotensin II. These results suggest that blockade of the renin angiotensin system should be tested as a first-line medical therapy in patients with vEDS.

Muscle characteristics and altered myofascial force transmission in tenascin-X-deficient mice, a mouse model of Ehlers-Danlos syndrome

2010 ◽  
Vol 109 (4) ◽  
pp. 986-995 ◽  
Author(s):  
Peter A. Huijing ◽  
Nicol C. Voermans ◽  
Guus C. Baan ◽  
Tinelies E. Busé ◽  
Baziel G. M. van Engelen ◽  
...  
Keyword(s):  
Mouse Model ◽  
Muscle Function ◽  
Medial Gastrocnemius ◽  
Force Transmission ◽  
Ehlers Danlos Syndrome ◽  
Muscle Involvement ◽  
Leg Muscles ◽  
Myofascial Force Transmission ◽  
Length Changes ◽  
Danlos Syndrome

The Ehlers-Danlos syndrome is a group of inherited connective tissue disorders caused by defects in collagens or tenascin-X (TNX). Muscle involvement can be expected based on interactions between muscle and extracellular matrix molecules; however, muscle function has not yet been investigated quantitatively. This study aims to investigate effects of TNX deficiency on muscular characteristics in TNX knockout (KO) mice, a mouse model of Ehlers-Danlos syndrome. At lower muscle lengths, maximally dissected medial gastrocnemius muscle-tendon complex of TNX KO mice showed lower active force, lower maximal rate of relaxation, and longer time delay between first stimulation pulse and initial force rise, supporting the hypothesis that relatively more slack needs to be taken up, as well as more elastic length changes occurring. In addition, study of the minimally dissected lower leg muscles shows that TNX deficiency strongly affects the mechanical interaction between antagonistic, as well as synergistic, muscles, which is consistent with the concept of altered myofascial force transmission due to increased compliance of myofascial components. Altered properties of the force transmission pathways of muscle (being either part of the myotendinous or myofascial pathways) due to TNX deficiency directly affect muscle function in TNX KO mice. Such effects are likely to contribute to muscle weakness experienced by patients with Ehlers-Danlos syndrome.

Ehlers-Danlos Syndrome, Kyphoscoliotic Type (Formerly Type VI) as Differential Diagnosis to Neuromuscular Diseases

2016 ◽  
Vol 47 (S 01) ◽  
Author(s):  
M. Schroth ◽  
C. Reihle ◽  
M. Wachowsky ◽  
L. Travan ◽  
M. Buob ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Neuromuscular Diseases ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome
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