Journal
JOURNAL OF DERMATOLOGY
Volume 48, Issue 4, Pages 481-485Publisher
WILEY
DOI: 10.1111/1346-8138.15766
Keywords
cartilage oligomeric matrix protein; electron microscopy; endoplasmic reticulum; endoplasmic reticulum stress; vascular-type Ehlers-Danlos syndrome
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Funding
- Dokkyo Medical University [2018-18]
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This study focuses on anomalies in collagen fiber size and the endoplasmic reticulum stress response in patients with Vascular-type Ehlers-Danlos syndrome (vEDS). The research found that ATF6 expression levels were significantly higher in the vEDS group, while COMP and COL3A1 levels were lower. The fragile collagen fibrils in vEDS might form as a result of ER stress, leading to the appearance of small, newly formed collagen fibrils.
Vascular-type Ehlers-Danlos syndrome (vEDS) is an autosomal-dominant inherited disorder caused by a deficit in collagen III. It results from heterogeneous mutations in the alpha 1 collagen III gene (COL3A1) and is associated with life-threatening complications, even in younger patients. However, the details of the pathogenesis underlying the COL3A1 mutation causing vEDS remain unclear. Here, we focus on anomalies in collagen fiber size and the endoplasmic reticulum (ER) stress response in patients with vEDS using electron microscopy (EM). We discovered that although the infants did not have vEDS, collagenous formations were similar to their samples in vEDS. Moreover, we examined the expression of activating transcription factor 6 (ATF6) as an ER stress marker and cartilage oligomeric matrix protein (COMP) as a binding partner protein for collagen fibrils in the dermis and COL3A1. The expression levels of ATF6 in the vEDS group were significantly higher than in infants and controls; COMP and COL3A1 levels were significantly lower. The fragile collagen fibrils in vEDS might form as a result of ER stress and that small, newly formed collagen fibrils may appear. This research revealed a novel prospect regarding an issue that has been unclear for a long time, which is the reason for the abnormal sizes of collagenous fibrils in vEDS.
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