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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
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Satellite Stem Cells and Muscular Dystrophy01:21

Satellite Stem Cells and Muscular Dystrophy

Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
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...
Master Transcription Regulators02:23

Master Transcription Regulators

Master transcription regulators are regulatory proteins that are predominantly responsible for regulating the expression of multiple genes. Often these genes work in concert to drive a  complex process. Activation of a master transcription regulator can lead to a cascade of transcriptional activation necessary for that outcome. These regulators can directly bind to the regulatory sequences of the various genes involved, or they can indirectly regulate transcription by binding to regulatory...

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Related Experiment Video

Updated: May 8, 2026

Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides
05:16

Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides

Published on: May 7, 2020

DMD transcript imbalance determines dystrophin levels.

Pietro Spitali1, Janneke C van den Bergen, Ingrid E C Verhaart

  • 11Department of Human Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands. a.m.rus@lumc.nl.

FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
|August 27, 2013
PubMed
Summary
This summary is machine-generated.

Duchenne and Becker muscular dystrophies involve DMD gene mutations. Dystrophin mRNA stability, not just transcription, impacts protein levels, crucial for developing effective mRNA-targeting therapies.

Keywords:
Duchenne muscular dystrophyantisense oligonucleotidesexon skippingtranscript stability

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Published on: April 3, 2021

Area of Science:

  • Genetics
  • Molecular Biology
  • Biochemistry

Background:

  • Duchenne and Becker muscular dystrophies result from mutations in the dystrophin (DMD) gene.
  • Current molecular therapies aim to restore dystrophin expression via mRNA targeting.

Purpose of the Study:

  • To investigate dystrophin mRNA expression levels and stability in cardiac versus skeletal muscle.
  • To determine factors influencing dystrophin protein abundance in Becker muscular dystrophy patients.

Main Methods:

  • Comparative analysis of DMD gene expression in mouse and human cardiac and skeletal muscle tissues.
  • Assessment of mRNA transcript stability and 5' to 3' imbalance in mdx mice and Becker dystrophy patients.
  • Evaluation of the impact of antisense-mediated exon skipping on transcript characteristics.

Main Results:

  • The DMD gene exhibits higher expression in the heart than in skeletal muscle across species.
  • Mutated transcripts in mdx mice show a 5' to 3' imbalance, uncorrected by exon skipping.
  • Becker dystrophy patients display significant transcript instability, independent of premature nonsense mutations.

Conclusions:

  • Transcript stability is a critical determinant of dystrophin protein levels in Becker muscular dystrophy.
  • Complete dystrophin transcript availability influences protein abundance, impacting mRNA-targeting therapy outcomes.
  • Understanding mRNA stability is vital for optimizing therapeutic strategies for muscular dystrophies.