An in  vitro model to evaluate the properties of matrices produced by fibroblasts from osteogenesis imperfecta and Ehlers-Danlos Syndrome patients.

CONCLUSIONS: Osteogenesis imperfecta patients with haploinsufficient mutations had higher percentage of anisotropic collagen fibers alignment compared to other patient groups; all patients had a lower percentage of anisotropic samples compared to healthy controls. This correlated with higher average stiffness in the control group. Glycosaminoglycan content was lower in the control and haploinsufficient groups. In cells with PLOD1 mutations, there were no differences in PLOD2 expression. This proof of concept study was able to show differences in collagen fiber orientation between different patient groups which can potentially pave the way towards the development of 3D models aiming at improved investigation of disease mechanisms. PMID: 31668813 [PubMed - as supplied by publisher]
Source: Biochemical and Biophysical Research communications - Category: Biochemistry Authors: Tags: Biochem Biophys Res Commun Source Type: research

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This article is protected by copyright. All rights reserved. PMID: 31794058 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
ABSTRACTPLOD genes encode for procollagen lysyl hydroxylase enzymes (LH/PLOD), a family of proteins essential for collagen biosynthesis. Several mutations affect these genes, causing severe disorders, such as Ehlers ‐Danlos and Bruck syndrome, as well a connective tissue disease with phenotype resembling osteogenesis imperfecta caused by lack of LH3 functions. The recently determined three‐dimensional (3D) structures of the full‐length human LH3/PLOD3 isoform, together with the structure of a fragment of a viral LH/PLOD homolog, are now allowing molecular mapping of the numerous disease‐causing mutations, providing...
Source: Journal of Bone and Mineral Research - Category: Orthopaedics Authors: Tags: Original Article Source Type: research
Abstract Osteogenesis imperfecta (OI) is an inherited connective tissue disorder with a broad clinical spectrum that can overlap with Ehlers-Danlos syndrome (EDS). To date, patients with both OI and EDS have rarely been reported. In the present study, we investigated a family with four members, one healthy individual, one displaying OI only, and two displaying the compound phenotype of OI and EDS, and identified the pathogenic mutations. Whole exome sequencing was applied to the proband and her brother. To verify that the mutations were responsible for the pathogenesis, conventional Sanger sequencing was performed...
Source: Bioscience Reports - Category: Biomedical Science Authors: Tags: Biosci Rep Source Type: research
In this study, we identified a Thai patient having OI type III, EDS, brachydactyly, and dentinogenesis imperfecta. His dentition showed delayed eruption, early exfoliation, and severe malocclusion. For the first time, ultrastructural analysis of the tooth affected with OI/EDS showed that the tooth had enamel inversion, bone-like dentin, loss of dentinal tubules, and reduction in hardness and elasticity, suggesting severe developmental disturbance. These severe dental defects have never been reported in OI or EDS. Exome sequencing identified a novel de novo heterozygous glycine substitution, c.3296G>A, p.Gly1099Glu, in e...
Source: Genes and Diseases - Category: Genetics & Stem Cells Source Type: research
ABSTRACTPLOD genes encode for procollagen lysyl hydroxylase enzymes (LH/PLOD), a family of proteins essential for collagen biosynthesis. Several mutations affect these genes, causing severe disorders, such as Ehlers ‐Danlos and Bruck syndrome, as well a connective tissue disease with phenotype resembling osteogenesis imperfecta caused by lack of LH3 functions. The recently determined three‐dimensional (3D) structures of the full‐length human LH3/PLOD3 isoform, together with the structure of a fragment of a viral LH/PLOD homolog, are now allowing molecular mapping of the numerous disease‐causing mutations, providing...
Source: Journal of Bone and Mineral Research - Category: Orthopaedics Authors: Tags: Original Article Source Type: research
This article is protected by copyright. All rights reserved
Source: Journal of Bone and Mineral Research - Category: Orthopaedics Authors: Tags: Original Article Source Type: research
CONCLUSIONS: Specific sequence variants in COL8A2, PRDM5 and ZNF469, COL5A1 and ZNF469, and COL5A1 and COL5A2 could probably contribute to a CCT reduction in POAG, BCS, KTCN, and EDS, respectively. Similar sequence variants and phenotypes were identified and assessed in more than one disease. PMID: 28453375 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
[Peripheral artery disease in patients younger than 50 years old: Which etiology?] Ann Cardiol Angeiol (Paris). 2016 Jun 16; Authors: Cotard S, Nouni A, Jaquinandi V, Gladu G, Kaladji A, Mahé G Abstract Peripheral arterial disease (PAD) encompasses disease of all arteries of the body except the coronary arteries. The main etiology whatever the patient's age is atherosclerosis. Different etiologies can induce PAD especially when patients are younger than 50 years old and have no cardiovascular risk factors (smoking, hypertension, diabetes…). PAD that appears before 50 years...
Source: Annales de Cardiologie et d'Angeiologie - Category: Cardiology Authors: Tags: Ann Cardiol Angeiol (Paris) Source Type: research
Dentinogenesis Imperfecta (DGI) is an inherited single-gene disorder affecting the dentine. In 1973 a classification of dentine defects was made, dividing them into two main groups, DGI and Dentin Dysplasia (DD). These were then further subdivided into DGI Types I-III and DD Types I-II.1 Several syndromes are reported to be associated with dentine defects i.e. osteogenesis imperfecta (OI,) and Ehlers-Danlos syndrome (EDS) with DD Type 1. These are conditions involving dentine aberrations and where the molecular basis is known.
Source: Archives of Oral Biology - Category: Dentistry Authors: Source Type: research
Discussion Hypermobility can be seen in several different clinical entities. These include generalized joint hypermobility, joint hypermobility syndrome, Marfan syndrome, Ehlers-Danlos syndrome and Osteogenesis Imperfecta. For adults, a Beighton score of at least 4 or 5 is used as a definition of hypermobility. For children a score of 5 or 6 is used as a definition. (see scoring system below). Generalized joint hypermobility is hypermobility with few or no symptoms. If they occur, knee symptoms are the most common. Joint hypermobility syndrome has hypermobility along with other symptoms such as pain, reduced muscle stren...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
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