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MicroRNA (miRNA) are short, regulatory RNA transcribed from introns—non-coding regions of a gene—or intergenic regions—stretches of DNA present between genes. Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After...
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MicroRNA (miRNA) are short, regulatory RNA transcribed from introns (non-coding regions of a gene) or intergenic regions (stretches of DNA present between genes). Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself, forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After the pre-miRNA...
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Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
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Acute Coronary Syndrome I: Introduction01:30

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Acute Coronary Syndrome (ACS) encompasses a spectrum of heart conditions caused by sudden obstruction of coronary arteries, typically resulting from the rupture of an atherosclerotic plaque and subsequent thrombus (blood clot) formation. This obstruction can lead to partial or complete blockage of blood flow, causing varying degrees of myocardial ischemia or infarction.ACS includes the following clinical entities:Unstable Angina (UA)Non-ST-Elevation Myocardial Infarction (NSTEMI)ST-Elevation...
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Irritable Bowel Syndrome I: Introduction01:17

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Irritable Bowel Syndrome (IBS) is characterized by functional disturbances in the gastrointestinal system, presenting a cluster of symptoms without evident structural or biochemical abnormalities. It primarily affects the large intestine and may cause abdominal pain, bloating, excessive gas, diarrhea, constipation, or both.
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Restless Leg Syndrome (RLS), also known as Willis-Ekbom disease, is a neurological disorder characterized by an uncontrollable urge to move the legs due to uncomfortable sensations. These sensations typically occur during periods of rest or inactivity, particularly when lying down or sitting, and can severely disrupt sleep.
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Highly Efficient Ligation of Small RNA Molecules for MicroRNA Quantitation by High-Throughput Sequencing
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Highly Efficient Ligation of Small RNA Molecules for MicroRNA Quantitation by High-Throughput Sequencing

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Down syndrome and microRNAs.

Aldina Brás1, António S Rodrigues1, Bruno Gomes1

  • 1Centre for Toxicogenomics and Human Health (ToxOmics), Genetics, Oncology and Human Toxicology, NOVA Medical School, Faculty of Medical Sciences, NOVA University of Lisbon, 1169-056 Lisbon, Portugal.

Biomedical Reports
|February 7, 2018
PubMed
Summary
This summary is machine-generated.

MicroRNAs (miRNAs) are crucial in Down syndrome (DS) pathology. Overexpressed miRNAs in DS may explain associated health issues, aiding new treatment strategies.

Keywords:
Down syndromemicroRNAstrisomy 21

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Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • Down syndrome (DS) is a genetic disorder caused by trisomy 21, leading to altered gene dosage.
  • MicroRNAs (miRNAs) play significant roles in human pathology and gene regulation.
  • Specific miRNAs, including miR-155 and miR-125b-2, are overexpressed in individuals with DS.

Purpose of the Study:

  • To review the role of microRNAs (miRNAs) in the pathogenesis of Down syndrome (DS).
  • To discuss miRNA haploinsufficiency and protein translation alterations in DS.
  • To explore potential therapeutic strategies targeting miRNAs for DS-related conditions.

Main Methods:

  • Literature review of studies on miRNAs and Down syndrome.
  • Analysis of miRNA expression patterns in DS.
  • Examination of miRNA target gene interactions and their impact on DS phenotype.

Main Results:

  • Several miRNAs, such as miR-155, miR-802, miR-125b-2, let-7c, and miR-99a, are overexpressed in DS.
  • This overexpression is implicated in DS-associated neuropathology, congenital heart defects, and altered cancer risk.
  • MiRNAs on other chromosomes may also contribute to the DS phenotype through interactions with chromosome 21 genes.

Conclusions:

  • Understanding miRNA dysregulation in DS is key to elucidating its complex pathogenesis.
  • Targeting specific miRNAs offers potential for novel therapeutic interventions for DS complications.
  • Further research into miRNA-gene interactions can advance prevention and treatment strategies for Down syndrome.