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Related Concept Videos

Additional Subnuclear Structures02:10

Additional Subnuclear Structures

The eukaryotic nucleus is a double membrane-bound organelle that contains nearly all of the cell’s genetic material in the form of chromosomes. It is rightly called the “brain” of the cell as it shoulders the responsibility of responding to various physiological processes, stress, altered metabolic conditions, and other cellular signals. 
The nucleus contains many membrane-less subnuclear organelles or nuclear bodies, such as nucleoli, Cajal bodies, speckles, paraspeckles, etc. These nuclear...
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
The Nucleolus02:55

The Nucleolus

The nucleolus is the most prominent substructure of the nucleus. When it was first discovered, it was considered to be an isolated organelle that forms fibrils and granules. In 1931, the relationship between the nucleolus and chromosomes was first described by Heitz. He observed that the appearance and size of nucleolus varies depending on the stage of the cell cycle. He also noticed constricted regions on different chromosomes clustered together at definite cell cycle stages. These regions,...
Nuclear Export of mRNA02:31

Nuclear Export of mRNA

Before mRNAs are exported to the cytoplasm, it is crucial to check each mRNA for structural and functional integrity. Eukaryotic cells use several different mechanisms, collectively known as mRNA surveillance, to look for irregularities in mRNAs. Irregular or aberrant mRNA are rapidly degraded by various enzymes. If a defective mRNA escapes the surveillance, it would be translated into a protein which would either be non-functional or not function properly. One of the primary irregularities in...
Nuclear Export of mRNA02:31

Nuclear Export of mRNA

Before mRNAs are exported to the cytoplasm, it is crucial to check each mRNA for structural and functional integrity. Eukaryotic cells use several different mechanisms, collectively known as mRNA surveillance, to look for irregularities in mRNAs. Irregular or aberrant mRNA are rapidly degraded by various enzymes. If a defective mRNA escapes the surveillance, it would be translated into a protein which would either be non-functional or not function properly. One of the primary irregularities in...
Chromatin Structure Regulates pre-mRNA Processing02:41

Chromatin Structure Regulates pre-mRNA Processing

In eukaryotic cells, nascent mRNA transcripts need to undergo many post-transcriptional modifications to reach the cell cytoplasm and translate into functional proteins. For a long time, transcription and pre-mRNA processing were considered two independent events that occur sequentially in the cell. However, it has now been well established that transcription and pre-mRNA processing are two simultaneous processes that are precisely regulated inside the cell.
The chromatin structure, especially...

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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

Nuclear RNA clusters are dynamic structural entities in Huntington's disease.

Sandra Fienko1, Iulia M Nita2, Ignacio Munoz-Munoz2

  • 1Huntington's Disease Centre and Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London, London, UK. s.fienko@ucl.ac.uk.

Communications Biology
|June 29, 2026
PubMed
Summary
This summary is machine-generated.

Huntington's disease research reveals mutant huntingtin (HTT) mRNA forms nuclear clusters in neurons, impacting nuclear function. This discovery offers new therapeutic targets for Huntington's disease.

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08:53

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Published on: May 16, 2017

Area of Science:

  • Neuroscience
  • Molecular Biology
  • Genetics

Background:

  • Huntington's disease (HD) research traditionally focuses on huntingtin protein dysfunction.
  • The role of mutant huntingtin (HTT) mRNA in HD pathogenesis remains underexplored.
  • Previous work identified HTT mRNA nuclear clusters in YAC128 mouse models.

Purpose of the Study:

  • To investigate the developmental timing and cellular localization of HTT mRNA nuclear clusters.
  • To explore the association of these clusters with nuclear processes like splicing.
  • To assess the dynamic nature and potential therapeutic implications of HTT mRNA clusters.

Main Methods:

  • Utilized YAC128 mouse models of Huntington's disease.
  • Employed microscopy techniques to visualize RNA nuclear clusters.
  • Investigated cluster formation across prenatal and postnatal stages.
  • Examined colocalization with spliceosomal proteins.
  • Assessed cluster dynamics by disrupting ionic interactions and inhibiting transcription/splicing.

Main Results:

  • HTT mRNA nuclear clusters are present from the prenatal stage in YAC128 mice.
  • These clusters are exclusively found in neurons, suggesting a neuron-specific accumulation mechanism.
  • Clusters colocalize with core spliceosomal proteins, indicating potential disruption of nuclear homeostasis.
  • HTT mRNA clusters exhibit dynamic behavior, rapidly dissolving under specific conditions.

Conclusions:

  • Mutant HTT mRNA nuclear retention is an early event in Huntington's disease pathogenesis.
  • The neuron-specific and dynamic nature of these clusters highlights their potential as therapeutic targets.
  • Understanding HTT mRNA cluster dynamics is crucial for developing effective Huntington's disease therapies.