JUP gene mutant and application thereof

Abstract

The invention belongs to the technical field of gene research, and discloses a JUP gene mutant and application thereof. The invention specifically discloses nucleic acid which comprises the following target fragments, and compared with a wild type JUP gene, the nucleic acid has c.958C > T mutation; preferably, the nucleic acid is DNA, and in some cases, the RNA containing the target fragment is also within the scope of the invention; compared with a wild type JUP, the polypeptide has a p.R320C mutation, and the polypeptide has a p.R320C mutation; a gene mutation: compared with a wild type JUP gene, the gene mutation has c.958C > T mutation; the biological model containing the preorder mutation is applied to preparation of a reagent for screening, preventing and treating cardiomyopathy; the medicine for preventing and treating cardiomyopathy comprises a gene vector, and the gene vector contains a gene segment capable of replacing c.958 site mononucleotide T of a JUP gene with mononucleotide C and expressing the mononucleotide C. The invention provides a new mutation site of cardiomyopathy, especially arrhythmic right ventricular cardiomyopathy, and fills in some gaps in screening and treatment.

Description

technical field [0001] The invention belongs to the technical field of gene research, and in particular relates to a JUP gene mutant and its application. Background technique [0002] Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically related cardiomyopathy characterized by apoptosis or necrosis of cardiomyocytes predominantly in the right ventricle, which is replaced by fat and fibrous connective tissue. ventricle. Clinically, malignant events such as heart failure, malignant arrhythmia, and SCD may occur. The estimated prevalence in Western populations is 0.02% to 0.05%, and the male to female ratio is 3:1. It is an important cause of SCD in people under the age of 35. Molecular genetic studies have found that desmosomal gene mutations are the main pathogenesis of ARVC, involving 13 mutated genes, including 5 desmosomal protein genes and 8 non-desmosomal protein genes, but it is believed that the desmosomal gene mutation is A major factor in these p...

AI Technical Summary

Problems solved by technology

In 2000, the first pathogenic gene JUP was identified in Naxos disease, which encodes desmoglein (PG), which is the main component of intercellular adhesion. At present, there are less than 20 pathogenic sites related to ARVC Therefore, the relevant gene mutations still need to be further studied

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