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A transcriptome analysis study with the focus on the role of long non-coding RNAs in Down syndrome subjects

ABSTRACT: Down syndrome (DS) results from trisomy of chromosome 21 and is the most common genetic cause of intellectual disability (ID). A wide range of comorbidities have been described in DS, such as ID, muscle weakness, hypotonia, congenital heart disease and autoimmune diseases. The pathogenetic mechanisms that are responsible for developing these comorbidities are still far from being understood. It was hypothesized that dosage imbalance on chromosome 21 as a whole disrupts diverse developmental pathways whereas another hypothesis suggests that dosage increase for specific genes on chromosome 21 contributes directly to different aspects of the phenotype in DS. The present study explored mRNAs and lncRNAs expression by using the next generation sequencing analysis (NGS) and the quantitative real-time PCR (qRT-PCR) assay for the confirmation of the NGS results, followed by functional analysis of the results. The enrichment analysis of the results obtained revealed various pathways in which differentially expressed genes are involved. Developmental disorders play a crucial role in the phenotype of people with Down syndrome with particular attention to intellectual developmental disorders.

INSTRUMENT(S): NextSeq 550

ORGANISM(S): Homo sapiens

SUBMITTER: Genomix4Life Genomix4Life

PROVIDER: E-MTAB-10604 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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