Skip to main content

Lund University Publications

LUND UNIVERSITY LIBRARIES

Aberrant neural crest development causes craniofacial and other malformations in an animal model of Musculocontractural Ehlers-Danlos syndrome.

Pera, Edgar LU ; Gouignard, Nadège LU and Maccarana, Marco LU (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:
author
; and
organization
publishing date
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}},
}