作者: Christian Schoen , Jeffrey C Glennon , Shaghayegh Abghari , Marjon Bloemen , Armaz Aschrafi
DOI: 10.1093/EJO/CJX034
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摘要: Background The role of microRNAs (miRNAs) in animal models palatogenesis has been shown, but only limited research carried out humans. To date, no miRNA expression study on tissues or cells from cleft palate patients published. We compared palatal fibroblasts and age-matched controls. Material methods Cultured 10 non-syndromic lip (nsCLP; mean age: 18 ± 2 months), 5 (nsCPO; 17 controls (mean 24 months) were analysed with next-generation small RNA sequencing. All subjects are Western European descent. Sequence reads bioinformatically processed the differentially expressed miRNAs technically validated using quantitative reverse-transcription polymerase chain reaction (RT-qPCR). Results Using sequencing, three (hsa-miR-93-5p, hsa-miR-18a-5p, hsa-miR-92a-3p) up-regulated six (hsa-miR-29c-5p, hsa-miR-549a, hsa-miR-3182, hsa-miR-181a-5p, hsa-miR-451a, hsa-miR-92b-5p) down-regulated nsCPO fibroblasts. One (hsa-miR-505-3p) was nsCLP Of these, hsa-miR-505-3p, hsa-miR-92a, hsa-miR-181a, hsa-miR-451a also RT-PCR a higher fold change than RNAseq. Limitations sample size may limit value data. In addition, interpretation data is complicated by fact that biopsy samples taken after birth, while origin lies embryonic period. This, together possible effects culture medium, implies cell-autonomous genetic epigenetic differences might be detected. Conclusions For first time, we have shown several appear to dysregulated nsCPO. Furthermore, large-scale genomic studies needed validate these findings.