Nonsense mutation read-through activity application of coumestrol

Abstract

The invention discloses a nonsense mutation read-through function of coumestrol. The primary experiment result shows that expression of luciferase containing nonsense mutation can be partially recovered by the coumestrol in a cell model, in the extracellular protein truncation experiment, expression of an ATM gene containing nonsense mutation can be partially recovered by the cumestrol, and the coumestrol is expected to serve as a lead compound for developing new medicine through structural transformation and modification to treat various diseases caused by nonsense mutation, and the coumestrol has potential medicinal application.

Description

technical field [0001] The invention belongs to the field of biomedicine, and in particular relates to the application of the nonsense mutation read-through activity of comestol. Background technique [0002] Studies have found that 30% of human disease-causing gene mutations are nonsense mutations, which are related to the occurrence of many diseases including tumors and genetic diseases. Nonsense mutations can cause the codons encoding amino acids to be mutated into stop codons, and the appearance of premature stop codons will cause the termination of peptide chain synthesis, resulting in non-functional or incomplete truncated proteins; it will also cause mRNA to stay in the nucleus for a long time Prolonged, even through the nonsense-mediated mRNA decay (nonsense-mediated mRNA decay, NMD) pathway, the mRNA is selectively degraded, resulting in the loss of the encoded protein. [0003] Studies have shown that some compounds have nonsense mutation read-through activity. Un...

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Problems solved by technology

[0006] Aiming at the problems of existing nonsense mutation read-through agents such as few types, high toxicity, and low read-through efficiency, the present invention proposes the use of combistol nonsense mutation read-through activity

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