Nonsense mutation read-through activity use of blasticidin

Abstract

The invention discloses a nonsense mutation read-through activity function of blasticidin. A preliminary experiment result shows that the blasticidin can partially restore the expression of nonsense mutation-containing luciferase in a cell model, can partially restore the expression of a nonsense mutation-containing ATM gene in extracellular protein truncation experiments, is hopeful to develop new medicines a lead compound after being structurally reconstructed and modified to treat nonsense mutation induced various diseases, and has a potential medicine use.

Description

Technical field [0001] The invention belongs to the field of biomedicine, and specifically relates to the use of nonsense mutation read-through activity of blasticidin. Background technique [0002] Among all human disease-causing gene mutations, 30% are nonsense mutations. Nonsense mutations are not only one of the main causes of genetic diseases, but also closely related to the onset of tumors. They have been found in more than 480 tumor-related genes. Nonsense mutations will form a stop code in the mRNA prematurely, leading to premature termination of mRNA translation at the mutation site, resulting in the loss of the encoded protein. Studies have found that a small number of compounds can induce the translation complex to pass the nonsense mutation site to read through, so that the mRNA of the mutant gene can continue to be translated, thereby restoring the expression of the functional full-length protein. [0003] A large number of studies have proved that for many diseases ...

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Problems solved by technology

[0005] The present invention aims at the problem that there are few types of nonsense mutation read-through agents in the prior art, and provides the use of blasticidin with nonsense mutation read-through activity

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