AI Article Synopsis
- Collagen is vital for tissue strength and is linked to Ehlers-Danlos syndrome (EDS), which involves joint hyperextensibility and organ fragility due to genetic mutations.
- Mutations in the enzyme CHST14 are responsible for a specific form of EDS, called musculocontractural type EDS (mcEDS-CHST14), which can cause severe complications like large hematomas and reduced quality of life.
- Research on Chst14 gene-deleted mice reveals that CHST14 is crucial for proper placental vascular development, with abnormalities leading to perinatal lethality, thereby suggesting its role in the vascular issues seen in mcEDS-CHST14.
Article Abstract
Collagen is one of the most important components of the extracellular matrix that is involved in the strength of tissues, cell adhesion and cell proliferation. Mutations in several collagen and post-translational modification enzyme genes cause Ehlers-Danlos syndrome (EDS) characterized by joint and skin hyperextensibility as well as fragility of various organs. Carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase-1 (CHST14/D4ST1) is a critical enzyme for biosynthesis of dermatan sulfate, a side chain of various proteoglycans including biglycan that regulates collagen fibrils through their interaction. Mutations in CHST14 were found to cause a new form of EDS, named musculocontractural type EDS (mcEDS-CHST14). Large subcutaneous hematomas are one of the most serious complications accompanied by decreased quality of life and potential lethality. In this study, Chst14 gene-deleted mice were expected to be an animal model of the vascular abnormalities of mcEDS-CHST14. However, only limited numbers of adult mice were generated because of perinatal lethality in most Chst14 gene-deleted homozygote (Chst14-/-) mice. Therefore, we investigated the placentas of these fetuses. The placentas of Chst14-/- fetuses showed a reduced weight, alterations in the vascular structure, and ischemic and/or necrotic-like changes. Electron microscopy demonstrated an abnormal structure of the basement membrane of capillaries in the placental villus. These findings suggest that Chst14 is essential for placental vascular development and perinatal survival of fetuses. Furthermore, placentas of Chst14-/- fetuses could be a useful model for vascular manifestations in mcEDS-CHST14, such as the large subcutaneous hematomas.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993096 | PMC |
| http://dx.doi.org/10.1093/glycob/cwx099 | DOI Listing |
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View Article and Find Full Text PDFArticle Synopsis
- Collagen is vital for tissue strength and is linked to Ehlers-Danlos syndrome (EDS), which involves joint hyperextensibility and organ fragility due to genetic mutations.
- Mutations in the enzyme CHST14 are responsible for a specific form of EDS, called musculocontractural type EDS (mcEDS-CHST14), which can cause severe complications like large hematomas and reduced quality of life.
- Research on Chst14 gene-deleted mice reveals that CHST14 is crucial for proper placental vascular development, with abnormalities leading to perinatal lethality, thereby suggesting its role in the vascular issues seen in mcEDS-CHST14.
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