Related Experiment Video

Updated: Aug 15, 2026

Measuring RAN Peptide Toxicity in C. elegans
10:49

Measuring RAN Peptide Toxicity in C. elegans

Published on: April 30, 2020

Possible involvement of the RNAi pathway in trinucleotide repeat expansion diseases

L Malinina1

  • 1Structural Biology Program, Memorial Sloan-Kettering Cancer Center, New York, NY 10021, USA. lucy@mskcc.org

Journal of Biomolecular Structure & Dynamics
|October 13, 2005
PubMed

Insights

A novel mechanism for trinucleotide repeat disorders suggests RNA hairpins trigger gene silencing via RNA interference (RNAi). This leads to protein depletion and disease phenotypes, as seen in myotonic dystrophy type 1.

Area of Science:

  • Molecular Biology
  • Genetics
  • RNA Biology

Background:

  • Trinucleotide repeat expansions are linked to various genetic disorders.
  • The precise molecular mechanisms driving these diseases remain incompletely understood.

Purpose of the Study:

  • To propose a new molecular mechanism for trinucleotide expansion diseases.
  • To elucidate the role of RNA structures and RNA interference (RNAi) in disease pathogenesis.

Main Methods:

  • Analysis of RNA hairpin formation in transcripts with (CNG)(n) repeats.
  • Investigation of the RNA interference (RNAi) pathway's involvement.
  • Correlation of gene silencing and protein depletion with disease phenotypes.

Main Results:

  • Transcripts with (CNG)(n) sequences form double-helical RNA hairpins.
  • These RNA hairpins are processed through the RNAi pathway, leading to gene silencing.
  • Silencing of genes containing (CNG)(n) sequences results in the depletion of their encoded proteins, causing disease phenotypes.

Conclusions:

  • A novel RNA-mediated mechanism involving RNA hairpins and RNAi explains trinucleotide expansion diseases.
  • This mechanism is supported by data from human myotonic dystrophy type 1, caused by (CTG)(n) expansion.
  • The findings offer new insights into the molecular basis of repeat expansion disorders.

More Related Videos

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells08:53

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells

Published on: May 16, 2017

Related Concept Videos

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
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
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...
piRNA - Piwi-interacting RNAs02:57

piRNA - Piwi-interacting RNAs

PIWI-interacting RNAs, or piRNAs, are the most abundant short non-coding RNAs. More than 20,000 genes have been found in humans that code for piRNAs while only 2000 genes have been found for miRNAs. piRNAs can act at the transcriptional and post-transcriptional levels and have a vital role in silencing transposable elements present in germ cells. They are also involved in epigenetic silencing and activation. Previously, they were thought to function only in germ cells but new evidence suggests...
lncRNA - Long Non-coding RNAs02:39

lncRNA - Long Non-coding RNAs

In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA (lncRNA)...
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...