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MicroRNAs01:22

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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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As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
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RNA interference (RNAi) is a cellular mechanism that inhibits gene expression by suppressing its transcription or activating the RNA degradation process. The mechanism was discovered by Andrew Fire and Craig Mello in 1998 in plants. Today, it is observed in almost all eukaryotes, including protozoa, flies, nematodes, insects, parasites, and mammals. This precise cellular mechanism of gene silencing has been developed into a technique that provides an efficient way to identify and determine the...
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Alternative RNA Splicing02:18

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Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
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RNA Interference01:23

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RNA interference (RNAi) is a process in which a small non-coding RNA molecule blocks the post-transcriptional expression of a gene by binding to its messenger RNA (mRNA) and preventing the protein from being translated.
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MicroRNA and Rare Human Diseases.

Himanshu Goel1,2, Amy Goel3

  • 1Hunter Genetics, Waratah, NSW 2298, Australia.

Genes
|October 26, 2024
PubMed
Summary

MicroRNAs (miRNAs) are key players in rare genetic disorders. Dysregulation of these small non-coding RNAs contributes to diseases like DICER1 syndrome and neurodevelopmental disorders, offering diagnostic and therapeutic potential.

Keywords:
DICER1 syndromeDROSHA–DGCR8 complexRISCargonaute proteinsgene expressionmRNAsmicroRNAs

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Area of Science:

  • Molecular Biology
  • Genetics
  • RNA Biology

Background:

  • MicroRNAs (miRNAs) are small non-coding RNAs regulating gene expression by targeting messenger RNAs (mRNAs).
  • miRNA biogenesis involves transcription, processing by DROSHA-DGCR8 and DICER, and RISC complex incorporation.
  • Dysregulation of miRNAs is increasingly recognized in the pathogenesis of rare genetic disorders.

Purpose of the Study:

  • To elucidate the role of microRNA dysregulation in rare genetic disorders.
  • To summarize mechanisms linking miRNA processing and regulation abnormalities to disease.
  • To highlight the diagnostic and therapeutic potential of understanding miRNA involvement.

Main Methods:

  • Literature review and synthesis of mechanisms.
  • Analysis of genetic disorders associated with miRNA mutations or dysregulation.
  • Case examples illustrating miRNA roles in specific diseases.

Main Results:

  • miRNA dysregulation is implicated in Mendelian and familial diseases, including DICER1 syndrome and neurodevelopmental disorders (NDDs).
  • Mutations in miRNA genes (e.g., MIR96, MIR184, MIR140) are linked to specific conditions like hearing loss, eye disorders, and skeletal dysplasia.
  • Abnormalities in miRNA processing and regulation contribute to the pathogenesis of rare genetic disorders.

Conclusions:

  • Understanding miRNA molecular mechanisms is crucial for rare genetic disorders.
  • miRNA dysregulation is a key pathogenic factor.
  • These insights hold significant potential for diagnosis and therapeutic interventions in rare genetic diseases.