Abstract
Cerebral cavernous malformations (CCM) are vascular malformations associated with abnormally dilated blood vessels and leaky capillaries that often result in hemorrhages. A precise understanding of the molecular mechanism leading to its pathogenesis is lacking. Emerging evidence indicates that small nucleolar RNAs (snoRNAs), belonging to the class of non-coding RNAs, may play a significant role as diagnostic markers in human diseases. However, there is no report till date that studied the role of snoRNAs in CCM biology. The objective of the current study was to identify snoRNAs associated with CCM pathogenesis. Using genome-wide small RNA sequencing, we identified a total of 271 snoRNAs reliably expressed in CCM patients. By applying statistical stringency, three snoRNAs (SNORD115-32, SNORD114 -22 and SNORD113-3) were found to be significantly downregulated in CCM as compared to healthy brains. Deregulation of the selected snoRNAs was further validated by qRT-PCR and their cellular localization via in situ hybridization. We report here for the first time robust downregulation of candidate snoRNAs in CCM conditions. Future studies should warrant the screening in large CCM patient cohorts and will be helpful in the development of potential biomarkers and improved clinical diagnosis.
Published Version
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