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Related Concept Videos

Alternative RNA Splicing02:18

Alternative RNA Splicing

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.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
Alternative RNA Splicing02:18

Alternative RNA Splicing

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.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
RNA Splicing01:32

RNA Splicing

Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
RNA Splicing01:32

RNA Splicing

Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
Nonsense-mediated mRNA Decay02:27

Nonsense-mediated mRNA Decay

The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
Usually, Upf3 binds to an Exon Junction Complex (EJC) at mRNA splice sites. If a ribosome fully translates the mRNA,...
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life

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Optogenetic Phase Transition of TDP-43 in Spinal Motor Neurons of Zebrafish Larvae
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Published on: February 25, 2022

Prominent Movement Disorders in RNU2-2-Related Spliceosomopathy.

Magdalena Krygier1, Ugo Sorrentino2,3, Matias Wagner2,3,4

  • 1Department of Developmental Neurology, Medical University of Gdansk, Gdansk, Poland.

Annals of Clinical and Translational Neurology
|May 27, 2026
PubMed
Summary
This summary is machine-generated.

Small nuclear RNA (snRNA) gene variants, termed RNUopathies, are linked to pediatric movement disorders. Researchers found new RNU2-2 variants in patients with intellectual disability, epilepsy, and hyperkinetic movement disorders.

Keywords:
RNU2‐2RNUopathiesdevelopmental and epileptic encephalopathymovement disordersneurodevelopmental disorders

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Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Pediatric movement disorders frequently co-occur with neurodevelopmental diseases, indicating shared underlying molecular pathways.
  • Small nuclear RNA (snRNA) genes, crucial for spliceosome function, have been implicated in neurodevelopmental disorders, leading to the classification of "RNUopathies."

Purpose of the Study:

  • To investigate the potential role of pathogenic variants in snRNA genes within a cohort of pediatric patients presenting with undiagnosed movement disorders.
  • To identify specific snRNA gene variants associated with complex neurodevelopmental and hyperkinetic movement phenotypes.

Main Methods:

  • Genome sequencing was performed on 14 patients with undiagnosed pediatric movement disorders.
  • Analysis focused on identifying pathogenic variants within small nuclear RNA (snRNA) genes.
  • RNA sequencing was conducted on patient-derived fibroblasts to assess transcriptomic changes.

Main Results:

  • Recurrent de novo variants in the RNU2-2 gene (specifically n.35A>G and n.4G>A) were identified in two patients.
  • These patients exhibited a combination of intellectual disability, epilepsy, and hyperkinetic movement disorders.
  • RNA sequencing of fibroblasts did not reveal a distinct transcriptomic signature associated with the identified variants.

Conclusions:

  • Spliceosomopathies, disorders arising from spliceosome dysfunction, should be considered in the differential diagnosis of neurodevelopmental disorders.
  • The findings suggest a potential link between RNU2-2 variants and developmental and epileptic encephalopathies characterized by hyperkinetic features.