Aberrant neural crest development causes craniofacial and other malformations in an animal model of Musculocontractural Ehlers-Danlos syndrome.
(2016) In Journal of Rare Diseases Research & Treatment 1(3). p.74-77- Abstract
- Musculocontractural Ehlers-Danlos syndrome (MC-EDS) is a rare recessive disorder that is characterized by connective tissue fragility, distinct craniofacial features and congenital malformations. MC-EDS patients have defects in the enzymes dermatan sulfate epimerase-1 and dermatan 4-O-sulfotransferase-1, which are involved in the biosynthesis of iduronic acid in the chondroitin sulfate/dermatan sulfate (CS/DS) chains of proteoglycans (PGs). While the connective tissue defect is a result of disturbed collagen fibril assembly based on a decreased iduronic acid content of interacting CS/DS-PGs, the cause of the developmental malformations in MC-EDS is not well understood. This review focuses on a new role of CS/DS-PGs in the development of... (More)
- Musculocontractural Ehlers-Danlos syndrome (MC-EDS) is a rare recessive disorder that is characterized by connective tissue fragility, distinct craniofacial features and congenital malformations. MC-EDS patients have defects in the enzymes dermatan sulfate epimerase-1 and dermatan 4-O-sulfotransferase-1, which are involved in the biosynthesis of iduronic acid in the chondroitin sulfate/dermatan sulfate (CS/DS) chains of proteoglycans (PGs). While the connective tissue defect is a result of disturbed collagen fibril assembly based on a decreased iduronic acid content of interacting CS/DS-PGs, the cause of the developmental malformations in MC-EDS is not well understood. This review focuses on a new role of CS/DS-PGs in the development of multipotent and highly migratory neural crest (NC) cells in the Xenopus embryo model of MC-EDS. Single iduronic acid residues in CS/DS-PGs are involved in the formation of NC-derived craniofacial structures by facilitating the migration and adhesion of NC cells to fibronectin. Our results suggest a defect in NC development as cause of the craniofacial and other congenital anomalies in MC-EDS patients, which might contribute to an improved diagnosis and etiology-based therapy. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/c9b8591f-71c2-4b74-bd54-4b2d6c414148
- author
- Pera, Edgar LU ; Gouignard, Nadège LU and Maccarana, Marco LU
- organization
- publishing date
- 2016
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Musculocontractural Ehlers-Danlos syndrome Neural crest Craniofacial development Proteoglycan Dermatan sulfate
- in
- Journal of Rare Diseases Research & Treatment
- volume
- 1
- issue
- 3
- pages
- 74 - 77
- publisher
- Sciaccess Publishers
- ISSN
- 2572-9411
- language
- English
- LU publication?
- yes
- id
- c9b8591f-71c2-4b74-bd54-4b2d6c414148
- alternative location
- http://www.rarediseasesjournal.com/articles/aberrant-neural-crest-development-causes-craniofacial-and-other-malformations-in-an-animal-model-of-musculocontractural-ehlersdanl.html
- date added to LUP
- 2018-02-20 13:42:19
- date last changed
- 2020-04-29 13:08:48
@article{c9b8591f-71c2-4b74-bd54-4b2d6c414148, abstract = {{Musculocontractural Ehlers-Danlos syndrome (MC-EDS) is a rare recessive disorder that is characterized by connective tissue fragility, distinct craniofacial features and congenital malformations. MC-EDS patients have defects in the enzymes dermatan sulfate epimerase-1 and dermatan 4-O-sulfotransferase-1, which are involved in the biosynthesis of iduronic acid in the chondroitin sulfate/dermatan sulfate (CS/DS) chains of proteoglycans (PGs). While the connective tissue defect is a result of disturbed collagen fibril assembly based on a decreased iduronic acid content of interacting CS/DS-PGs, the cause of the developmental malformations in MC-EDS is not well understood. This review focuses on a new role of CS/DS-PGs in the development of multipotent and highly migratory neural crest (NC) cells in the Xenopus embryo model of MC-EDS. Single iduronic acid residues in CS/DS-PGs are involved in the formation of NC-derived craniofacial structures by facilitating the migration and adhesion of NC cells to fibronectin. Our results suggest a defect in NC development as cause of the craniofacial and other congenital anomalies in MC-EDS patients, which might contribute to an improved diagnosis and etiology-based therapy.}}, author = {{Pera, Edgar and Gouignard, Nadège and Maccarana, Marco}}, issn = {{2572-9411}}, keywords = {{Musculocontractural Ehlers-Danlos syndrome Neural crest Craniofacial development Proteoglycan Dermatan sulfate}}, language = {{eng}}, number = {{3}}, pages = {{74--77}}, publisher = {{Sciaccess Publishers}}, series = {{Journal of Rare Diseases Research & Treatment}}, title = {{Aberrant neural crest development causes craniofacial and other malformations in an animal model of Musculocontractural Ehlers-Danlos syndrome.}}, url = {{http://www.rarediseasesjournal.com/articles/aberrant-neural-crest-development-causes-craniofacial-and-other-malformations-in-an-animal-model-of-musculocontractural-ehlersdanl.html}}, volume = {{1}}, year = {{2016}}, }