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 Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutations

2011 ◽  
Vol 64 (3) ◽  
pp. 237-240 ◽  
Author(s):  
Bruno Drera ◽  
Nicoletta Zoppi ◽  
Marco Ritelli ◽  
Sergio Barlati ◽  
Marina Colombi ◽  
...  
Keyword(s):  
Clinical Findings ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

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

A four-generation Ehlers-Danlos syndrome with vascular dissections. Skin ultrastructure and biomechanical properties

2007 ◽  
Vol 31 (3) ◽  
pp. 175-180 ◽  
Author(s):  
C. Flagothier ◽  
V. Goffin ◽  
T. Hermanns-Lê ◽  
G. E. Piérard ◽  
P. Quatresooz
Keyword(s):  
Biomechanical Properties ◽  
Ehlers Danlos Syndrome ◽  
Skin Ultrastructure ◽  
Danlos Syndrome

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 REHABILITASI MEDIK PADA SINDROM EHLERS-DANLOS

2014 ◽  
Vol 6 (2) ◽  
Author(s):  
Ivan A. Chandra ◽  
Engeline Angliadi
Keyword(s):  
Daily Living ◽  
Weight Bearing ◽  
Joint Hypermobility ◽  
Clinical Findings ◽  
Joint Stability ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Dna Test ◽  
Comprehensive Rehabilitation ◽  
Danlos Syndrome

Abstract: Ehlers-Danlos syndrome is a group of inherited connective tissue disorders that manifests as hypermobility joint, hyperextensibility of the skin, and tissue fragility. There are 6 variants of this syndrome as follows: hypermobility, classic, vascular, kyphoscoliosis, athroclasia, and dermatosparaxis. The clinical manifestation of Ehlers-Danlos syndrome is often related to joint and skin. However, it rarely manifests as fragility or rupture of artery, scoliosis, and mitral valve disorder. The diagnosis of Ehlers-Danlos syndrome is based on clinical findings, family history with this syndrome, and additional tests inter alia DNA test. The management of Ehlers-Danlos syndrome could be medication, surgery, and rehabilitation. This rehabilitation is focused on increasing the joint stability, prohibiting for excessive burden to weight bearing joints, and using modified device to support activites of daily living without worsening the symptoms as well as supporting the psychological and medical social aspects of the patient. Keywords: Ehlers-Danlos syndrome, joint hypermobility, comprehensive rehabilitation   Abstrak: Sindrom Ehlers-Danlos (SED) adalah sekelompok gangguan pada jaringan penyambung yang bersifat diturunkan dan bermanifestasi sebagai hipermobilitas sendi, hiperekstensibilitas kulit, dan kerapuhan jaringan. Terdapat 6 jenis SED yaitu: hipermobilitas, klasik, vaskuler, kifoskoliosis, artrokalasia, dan dermatosparaksis. Manifestasi klinis SED sering berkaitan dengan sendi dan kulit. Manifestasi lain yang lebih jarang ditemukan antara lain kerapuhan atau ruptur pembuluh darah arteri, skoliosis, serta gangguan katup mitral. Diagnosis SED ditegakkan berdasarkan penemuan klinis, riwayat keluarga dengan SED, serta pemeriksaan penunjang antara lain tes DNA. Penanganan SED terdiri dari medikasi, operasi, dan rehabilitasi. Penanganan rehabilitasi difokuskan pada peningkatan stabilitas sendi, pencegahan beban berlebih pada sendi yang weight bearing, serta penggunaan modifikasi alat untuk membantu aktifitas sehari-hari tanpa memperberat gejala. Selain itu, rehabilitasi medik juga berperan penting terhadap aspek psikologik maupun sosial medik pasien SED. Kata kunci: sindroma Ehlers-Danlos, hipermobilitas sendi, rehabilitasi komprehensif

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.

scholarly journals Aortic Disease in the Young: Genetic Aneurysm Syndromes, Connective Tissue Disorders, and Familial Aortic Aneurysms and Dissections

2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Marcelo Cury ◽  
Fernanda Zeidan ◽  
Armando C. Lobato
Keyword(s):  
Aortic Disease ◽  
Clinical Findings ◽  
Aortic Aneurysms ◽  
Genetic Syndromes ◽  
Ehlers Danlos Syndrome ◽  
Thoracic Aortic Aneurysms ◽  
Abdominal Aortic ◽  
Autosomal Dominant Polycystic Kidney ◽  
Thoracic And Abdominal ◽  
Danlos Syndrome

There are many genetic syndromes associated with the aortic aneurysmal disease which include Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), Loeys-Dietz syndrome (LDS), familial thoracic aortic aneurysms and dissections (TAAD), bicuspid aortic valve disease (BAV), and autosomal dominant polycystic kidney disease (ADPKD). In the absence of familial history and other clinical findings, the proportion of thoracic and abdominal aortic aneurysms and dissections resulting from a genetic predisposition is still unknown. In this study, we propose the review of the current genetic knowledge in the aortic disease, observing, in the results that the causative genes and molecular pathways involved in the pathophysiology of aortic aneurysm disease remain undiscovered and continue to be an area of intensive research.

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