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.

Heritable Disorders of Connective Tissue

PEDIATRICS ◽  
1957 ◽  
Vol 19 (6) ◽  
pp. 1160-1161
Author(s):  
JAMES V. NEEL
Keyword(s):  
Connective Tissue ◽  
Osteogenesis Imperfecta ◽  
Chronic Diseases ◽  
Marfan Syndrome ◽  
Pseudoxanthoma Elasticum ◽  
Hurler Syndrome ◽  
Ehlers Danlos Syndrome ◽  
Hereditary Syndromes ◽  
Danlos Syndrome

The contents of this book first appeared as a series of papers in the Journal of Chronic Diseases from November, 1955, through May, 1956. These papers, with additions, have now been collected into a volume which is an excellent summary of the heritable disorders of connective tissue. After brief introductory chapters dealing with some general characteristics of hereditary syndromes, and with the biology of normal connective tissue, the author devotes successive chapters to the Marfan syndrome, the Ehlers-Danlos syndrome, osteogenesis imperfecta, pseudoxanthoma elasticum, and the Hurler syndrome.

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