Related Experiment Video
Updated: Mar 13, 2026
A Method for Remotely Silencing Neural Activity in Rodents During Discrete Phases of Learning
Published on: June 22, 2015
The functional mechanisms and clinical application of read-through drugs
Yang Fu1, Zai-yue Shu1, Ming-min Gu1
1School of Medicine, Shanghai Jiao Tong University, Shanghai 200025, China.
Abstract:
According to previous reports, nearly one in 10 genetic diseases are caused by nonsense mutations around the world. Nonsense mutations lead to premature transcription terminations in cells, which in turn generate non-functional, truncated proteins. In recent years, read-through drugs are playing increasing prominent roles in the researches related to genetic diseases caused by nonsense mutations. However, due to the fact that the mechanisms lying behind translation termination still remain to be elucidated, the mechanistic research and clinical application of read-through drugs are facing new challenges. This review mainly discusses about the pathogenesis of genetic diseases caused by nonsense mutations, and then introduces the current clinical application of read-through drugs. Finally, we display some problems that remain to be solved and propose some possible coping strategies.
Insights
Nonsense mutations cause genetic diseases by creating truncated proteins. Read-through drugs offer a promising therapeutic strategy, but further research into translation termination mechanisms is crucial for clinical advancement.
Area of Science:
- Genetics and Molecular Biology
- Pharmacology
- Biochemistry
Background:
- Nonsense mutations are responsible for approximately 10% of all genetic diseases globally.
- These mutations lead to premature transcription termination, resulting in non-functional, truncated proteins.
- The underlying mechanisms of translation termination are not fully understood, posing challenges for therapeutic development.
Purpose of the Study:
- To review the pathogenesis of genetic diseases caused by nonsense mutations.
- To discuss the current clinical applications and research of read-through drugs.
- To identify unresolved challenges and propose future strategies for read-through drug development.
Main Methods:
- Literature review of existing research on nonsense mutations and read-through drugs.
- Analysis of the mechanisms of translation termination.
- Discussion of clinical trial data and therapeutic outcomes.
Main Results:
- Read-through drugs show potential in treating genetic diseases caused by nonsense mutations.
- Understanding translation termination mechanisms is key to optimizing drug efficacy.
- Several challenges remain in the mechanistic research and clinical application of these drugs.
Conclusions:
- Nonsense mutations represent a significant cause of genetic disorders.
- Read-through drugs are a promising therapeutic avenue, but require further mechanistic elucidation.
- Addressing current challenges is essential for advancing the clinical use of read-through therapies.
More Related Videos
08:46Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms
Published on: December 9, 2015
07:16Methods for the Discovery of Novel Compounds Modulating a Gamma-Aminobutyric Acid Receptor Type A Neurotransmission
Published on: August 16, 2018
Related Concept Videos
01:26Targets for Drug Action: Overview
Receptors are either membrane-spanning or intracellular proteins, which upon binding a ligand, get activated and transmit the signal downstream to elicit a response. Drugs bind receptors, either mimicking the action of endogenous ligands or blocking the receptor activity to bring about a modified response. Nearly 35% of approved drugs target the G...
01:24Principles of Drug Action
Drugs can be agonists or antagonists. Like the endogenous ligands, agonists always bind and activate the target to produce a cellular response. Agonist binding induces a conformational change which in turn...
01:21Pharmacodynamics: Overview and Principles
Most drugs' effects result from their interactions with drug receptors or targets within the body. These interactions trigger specific responses at the cellular or systemic level. Drug receptors can be found on the surfaces of cells or...
01:19Modified-Release Drug Delivery Systems: Overview
01:26Oral Drug Delivery Systems: Continuous-Release Systems
01:26Drug Administration and Therapy Phases: Overview
The pharmaceutical phase focuses on leveraging the physicochemical properties of the drug to design and manufacture an effective product. Variants include orally administered tablets or capsules, topical creams or ointments, and parenteral-delivery solutions or emulsions.
The pharmacokinetic phase...