| Accession |
PRJCA007224 |
| Title |
Mouse macular corneal dystrophy study |
| Relevance |
Medical |
| Data types |
Raw sequence reads
|
| Organisms |
Mus musculus
|
| Description |
Macular corneal dystrophy (MCD) is classified as corneal stromal dystrophy. In this study, we retrospectively reviewed the surgical outcomes of 118 MCD patients receiving surgical treatment in the past 30 years and found patients receiving penetrating keratoplasty had the lowest recurrence rate 13.75%, compared with 40.91% patients receiving deep anterior lamellar keratoplasty and 25% receiving phototherapeutic keratectomy. Transcriptomic analysis in human corneal single-cell sequencing atlas found the MCD pathogenic gene CHST6 was abundant in corneal endothelium rather than other cell types. CHST6 protein showed a similar expression pattern to its mRNA. The mouse homologous gene Chst5 was 120-fold higher in corneal endothelium than in the epithelial and stromal layers. Mice with specifically Chst5 knockdown in the endothelial layer by microinjection of the adeno-associated virus serotype 9 - shRNA plasmids into the anterior chamber, rather than Chst5 knockdown into the stroma, showed MCD-like phenotypes. Corneal opacification and abnormally larger collagen fibrils were observed in the endothelial Chst5 knockdown mice. The same corneal characteristics were observed after overexpressing human CHST6 mutant R50H in the mouse endothelium. These observations indicating the pathogenesis of MCD is more related to the corneal endothelium rather than the stroma. |
| Sample scope |
Monoisolate |
| Release date |
2023-11-15 |
| Grants |
| Agency |
program |
Grant ID |
Grant title |
| Shandong Provincial Natural Science Foundation
|
|
ZR2020QH140
|
|
| National Natural Science Foundation of China (NSFC)
|
|
82101091
|
|
| Academic Promotion Program and Innovation Project of Shandong First Medical University
|
|
2019ZL001
|
|
| Academic Promotion Program and Innovation Project of Shandong First Medical University
|
|
2019RC008
|
|
|
|
| Submitter |
Qingjun
Zhou (qjzhou2000@126.com)
|
| Organization |
Shandong First Medical University |
| Submission date |
2021-11-15 |
