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| Status |
Public on Oct 18, 2017 |
| Title |
Small RNA-seq analysis of circulating miRNAs to identify phenotypic variability in Friedreich's ataxia patients |
| Organism |
Homo sapiens |
| Experiment type |
Non-coding RNA profiling by high throughput sequencing
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| Summary |
Friedreich’s ataxia (FRDA; OMIM 229300), an autosomal recessive neurodegenerative mitochondrial disease, is the most prevalent hereditary ataxia. In addition, FRDA patients showed additional non-neurological features such as scoliosis, diabetes and cardiac complications. Hypertrophic cardiomyopathy, which is found in two thirds of patients at the time of diagnosis, is the primary cause of death in these patients. In this data set, using small RNA-sequencing of small RNA purified from plasma samples of FRDA patients and controls we identified differential expression of miRNAs (hsa-miR-128-3p, hsa-miR-625-3p, hsa-miR-130b-5p, hsa-miR-151a-5p, hsa-miR-330-3p, hsa-miR-323a-3p, and hsa-miR-142-3p) between both groups. In addition, we found that miR-323a-3p can be used as a biomarker for differentiation of FRDA patients with cardiac problems. Identification of miRNA signatures could therefore provide new molecular explanation for pathological mechanisms occurring during the natural history of the FRDA. Since miRNA levels change with disease progression and pharmacological interventions, miRNAs will contribute to design new therapeutic strategies and improve clinical decisions.
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| Overall design |
Plama miRNA profiles of 25 Friedreich's ataxia patients and 17 healthy subjects were generated by deep sequencing using Illumina HiScan SQ.
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| Contributor(s) |
Seco-Cervera M, González-Rodríguez D |
| Citation(s) |
29509186 |
| Submission date |
Oct 16, 2017 |
| Last update date |
May 15, 2019 |
| Contact name |
Marta Seco-Cervera |
| E-mail(s) |
marta.seco@uv.es
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| Organization name |
University of Valencia
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| Street address |
Av Blasco Ibañez, 15
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| City |
Valencia |
| ZIP/Postal code |
46393 |
| Country |
Spain |
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| Platforms (1) |
| GPL15456 |
Illumina HiScanSQ (Homo sapiens) |
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| Samples (42)
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| Relations |
| BioProject |
PRJNA414616 |
| SRA |
SRP120169 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE105052_counts_rawData.txt.gz |
25.8 Kb |
(ftp)(http) |
TXT |
SRA Run Selector |
| Raw data are available in SRA |
| Processed data are available on Series record |
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