The Functional Mechanisms and Clinical Application of Read-Through Drugs
Journal Title: Genetic Disease Study - Year 2018, Vol 2, Issue 2
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.
Authors and Affiliations
Alfred Zimmerman, Diana Jackson
Keywords
Related Articles
- EP ID EP679199
- DOI -
- Views 192
- Downloads 0
Whole Genome Sequencing Progress in Medical Application
At present, there are still a lot of diseases pathogenesis not clear, but making use of a new generation of sequencing technology to organisms conduct whole genome sequencing, which for the pathogenesis of many diseases...
Automated Large-Scale Genome Scanning and Linkage Analysis Strategy of Genetic Disease Related Gene Location
With the development of the Human Genome Project, many methods have been applied in this field. Since the 1990s, large-scale scanning and mapping of base circles have been established and developed by combining linkage a...
The Functional Mechanisms and Clinical Application of Read-Through Drugs
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-fun...
Genetic Testing and Genetic Consultation
The mutation genetic material, including genetic mutations or chromosome aberration, is the source of genetic disease happen, is also different from other diseases of the basic characteristics. Vigorously developing test...
Bovine Disease-Related DNA Mutations and Their Genetic Control Strategies in Breeding for Disease Resistance
Bovine genomic DNA mutations and their genetic effects on gene expression and protein function influence disease susceptibility and resistance of cattle. The genetic loci related to cattle diseases are mainly divided int...