Identification of New Potential LncRNA Biomarkers in Hirschsprung Disease

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Hirschsprung disease (HSCR) is a neurocristopathy defined by intestinal aganglionosis due to alterations during the development of the Enteric Nervous System (ENS). A wide spectrum of molecules involved in different signaling pathways and mechanisms have been described in HSCR onset. Among them, epigenetic mechanisms are gaining increasing relevance. In an effort to better understand the epigenetic basis of HSCR, we have performed an analysis for the identification of long non-coding RNAs (lncRNAs) by qRT-PCR in enteric precursor cells (EPCs) from controls and HSCR patients. We aimed to test the presence of a set lncRNAs among 84 lncRNAs in human EPCs, which were previously related with crucial cellular processes for ENS development, as well as to identify the possible differences between HSCR patients and controls. As a result, we have determined a set of lncRNAs with positive expression in human EPCs that were screened for mutations using the exome data from our cohort of HSCR patients to identify possible variants related to this pathology. Interestingly, we identified three lncRNAs with different levels of their transcripts (SOCS2-AS, MEG3 and NEAT1) between HSCR patients and controls. We propose such lncRNAs as possible regulatory elements implicated in the onset of HSCR as well as potential biomarkers of this pathology.
MeSH Terms
Medical Subject Headings::Chemicals and Drugs::Biological Factors::Biological Markers
Medical Subject Headings::Anatomy::Cells::Cells, Cultured::Tumor Cells, Cultured
Medical Subject Headings::Anatomy::Nervous System::Peripheral Nervous System::Autonomic Nervous System::Enteric Nervous System
Medical Subject Headings::Check Tags::Female
Medical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Disease
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation
Medical Subject Headings::Diseases::Digestive System Diseases::Gastrointestinal Diseases::Intestinal Diseases::Colonic Diseases::Megacolon::Hirschsprung Disease
Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
Medical Subject Headings::Check Tags::Male
Medical Subject Headings::Chemicals and Drugs::Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::RNA::RNA, Untranslated::RNA, Long Noncoding
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Nucleic Acid Amplification Techniques::Polymerase Chain Reaction::Reverse Transcriptase Polymerase Chain Reaction
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Processes::Gene Expression Regulation
Medical Subject Headings::Anatomy::Digestive System::Gastrointestinal Tract
Medical Subject Headings::Anatomy::Cells::Stem Cells
DeCS Terms
CIE Terms
Gastrointestinal tract, Hirschsprung disease, Enteric nervous system, Stem cells, Neural crest cells, Enteric precursor cells, Epigenetic mechanisms, Long noncoding RNA, Tracto gastrointestinal, Enfermedad de Hirschsprung, Sistema nervioso entérico, Células madre, Cresta neural, Epigénesis genética, Sistema nervioso entérico, ARN largo no codificante
Torroglosa A, Villalba-Benito L, Fernández RM, Luzón-Toro B, Moya-Jiménez MJ, Antiñolo G, et al. Identification of New Potential LncRNA Biomarkers in Hirschsprung Disease. Int J Mol Sci. 2020 Aug 2;21(15):5534