Specific serum microRNA profile in the molecular diagnosis of Hirschsprung's disease

Abstract

Hirschsprung's disease (HSCR), a congenital gastrointestinal disorder, is one of the most common causes of neonatal bowel obstruction. Without an early screening and diagnosis, some patients develop serious complications, such as toxic megacolon or acute enterocolitis. We sought to identify specific serum microRNAs (miRNAs) that can serve as novel early, non-invasive screening signature and then to test their specificity and sensitivity in diagnosing Hirschsprung's disease. We obtained serum samples from 95 HSCR cases and 104 matched controls. An initial screening of miRNA expression was performed through TaqMan Low Density Array. The candidate miRNAs were validated by individual reverse transcription quantitative real-time PCR arranged in the training and a two-stage validation set. Additional double-blind testing was performed in 23 patients with clinically suspected HSCR to evaluate the diagnostic value and accuracy of the serum miRNA profile in predicting HSCR. Following a multi-stage evaluation approach, five miRNAs were significantly increased in HSCR cases compared with controls. The areas under the receiver operating characteristic (ROC) curve of this five-serum miRNA signature were 0.895, 0.893 and 0.925 in training set and two validation sets, respectively. The accuracy rate of the five-miRNA profile as HSCR signature was 82.6%, which, in the double-blind testing set, was markedly higher than that of contrast enema (70%), the most commonly used test performed to diagnose HSCR. Our results indicate that a five-serum miRNA signature may be linked to HSCR, representing a potential, novel, non-invasive diagnostic approach for early screening of HSCR.

Serum MiRNA Biomarkers serve as a Fingerprint for Proliferative Diabetic Retinopathy

“…The global miRNA pattern in the sera of DR patients has not been determined. The expression of miRNAs in serum, serum, semen, and other body fluids, particularly serum miRNAs, are abundant, quiet stable [14]. Moreover, serum-based screening is easier, non-invasive and more affordable.…”

Microarray expression profiling of dysregulated long non‐coding RNAs in Hirschsprung's disease reveals their potential role in molecular diagnosis

“…MicroRNA has represented a novel approach for early diagnosis of HSCR . Increasing number of lncRNAs have also been used for screening several types of cancers, such as gastric cancer, skin cancer, and hepatocellular carcinoma, which suggested that lncRNAs could serve as diagnostic biomarkers.…”

Viral and Host Strategies for Regulation of Latency and Reactivation in Equid Herpesviruses

“…This is achieved by targeting viral trans-activators, showing sequence homology with cellular miRNAs, manipulation of cellular environment, etc. Currently, the role of miRNAs in alpha herpesviruses is known for 6 viruses only (HSV1, HSV2, Herpes B Virus, BoHV1, BoHV5, Pseudorabies) (Jurak et al, 2014;Tang et al, 2014). The role of miRNAs in equine herpesvirus biology and pathology has not been elucidated till date.…”