A seed sequence variant in miR-145-5p causes multisystem smooth muscle dysfunction syndrome
Transfection of either siRNA against miR-145-5p or the mutant miR-145-5p induced a phenotype characterized by deficient F-actin, whereas treatment with WT miR-145-5p enhanced stress fiber formation (Figure 1E). [...]we next performed RNA-seq analysis that included mRNAs and miRs in patient skin fibr...
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Published in | The Journal of clinical investigation Vol. 133; no. 5; pp. 1 - 3 |
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Main Authors | , , , , |
Format | Journal Article |
Language | English |
Published |
United States
American Society for Clinical Investigation
01.03.2023
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Subjects | |
Online Access | Get full text |
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Summary: | Transfection of either siRNA against miR-145-5p or the mutant miR-145-5p induced a phenotype characterized by deficient F-actin, whereas treatment with WT miR-145-5p enhanced stress fiber formation (Figure 1E). [...]we next performed RNA-seq analysis that included mRNAs and miRs in patient skin fibroblasts and compared them to WT skin fibroblasts. Furthermore, pathway analysis of DEGs showed enrichment of categories related to "hsa04810: regulation of actin cytoskeleton" (Supplemental Figure 3). [...]genetic variation in the MIR145 gene expands the possible loci associated with MSMDS and further confirms the syndrome as a disorder of failed SMC development and function, although discovery of further cases will be necessary to confirm our findings. |
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Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
ISSN: | 1558-8238 0021-9738 1558-8238 |
DOI: | 10.1172/JCI166497 |