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Related Concept Videos

Nonsense-mediated mRNA Decay

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,...

Nonsense-mediated mRNA Decay

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,...

Animal Mitochondrial Genetics

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...

Translation

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

Translation

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

Mutations

Mutations

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Related Experiment Video

Updated: May 22, 2026

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model

Published on: March 9, 2022

Read-through therapy for mitochondrial DNA nonsense mutations.

David Pacheu-Grau¹, Aurora Gómez-Durán, Ester López-Gallardo

¹Departamento de Bioquímica, Biología Molecular y Celular, Centro de Investigaciones Biomédicas En Red de Enfermedades Raras (CIBERER), Universidad de Zaragoza, Spain.

Drug Discovery Today

|May 10, 2012

Summary

Read-through therapies offer a promising causal treatment for mitochondrial DNA disorders. This approach, effective for nuclear DNA nonsense mutations, shows potential for treating mitochondriopathies.

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Area of Science:

Genetics
Molecular Biology
Medical Research

Background:

Mitochondrial DNA (mtDNA) mutations, including nonsense mutations, currently lack causal treatments.
Nuclear DNA (nDNA) nonsense mutations are a target for novel therapeutic strategies.

Purpose of the Study:

To explore the potential of read-through therapies for treating disorders caused by mtDNA mutations.
To evaluate the applicability of read-through therapy, successful in nDNA disorders, to mitochondriopathies.

Main Methods:

Review of current literature on read-through therapies for genetic disorders.
Analysis of mitochondrial DNA genetics and mutation types.
Comparative assessment of therapeutic approaches for nDNA and mtDNA disorders.

Main Results:

Read-through therapies are a promising approach for treating disorders arising from nDNA nonsense mutations.
The genetic characteristics of mtDNA suggest that read-through therapies could be effective for mitochondriopathies.

Conclusions:

Read-through therapy represents a potential causal treatment strategy for mitochondriopathies.
Further research and development are warranted to translate this therapeutic approach to the clinical setting for mtDNA disorders.