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Application of P53 gene mutation and telomere dysfunction

A technology of abnormal function and telomeres, applied in the biological field, can solve the serious problems such as the course of the disease, and achieve the effect of good scientific significance and clinical application value

Inactive Publication Date: 2017-12-08
KUNMING UNIV OF SCI & TECH
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Due to the late onset of the disease and the limitations of the current diagnostic methods, many patients have already had a serious course of disease when they are diagnosed, which has brought great mental pressure and financial burden to the patient's family.

Method used

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  • Application of P53 gene mutation and telomere dysfunction
  • Application of P53 gene mutation and telomere dysfunction
  • Application of P53 gene mutation and telomere dysfunction

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0019] Embodiment 1: Construction of polycystic kidney animal model

[0020] p53S mice with WS ( mTR - / - Wrn - / - ) mice were crossed to obtain an animal model of polycystic kidney disease; Human Progeria Syndrome (Werner Syndrome, WS) is an autosomal recessive mutation genetic disease, which manifests as obvious premature aging and shortened lifespan. Studies on the etiology of WS have found that WS is caused by mutations in the Wrn gene. The WRN protein encoded by the Wrn gene belongs to the DNA helicase RecQ family and is involved in DNA replication, recombination and DNA damage repair, so it plays a key role in maintaining the stability of chromosomes. Loss of Wrn protein function itself can lead to abnormal DNA replication at telomeres. Therefore, the WS mouse model is a good model for us to study the mechanism of abnormal telomere function and the occurrence and maintenance of human aging. In order to confirm that the abnormal function of telomere is the key to pr...

Embodiment 2

[0024] Example 2: mTR - / - Wrn - / - p53 S / S Mouse genotyping

[0025] Twenty-one days after birth, the offspring were divided into cages according to the sex of the mice. At the same time, number the mice, cut the tail of the mouse about 1 cm, and extract the mouse DNA. The DNA extraction process is as follows:

[0026] 1) Add 500 μL Tail-lysis buffer and 10 μL proteinase K to the Doff tube containing the mouse tail, mix well and put it in a 55°C incubator to react overnight;

[0027] 2) Add 500 μL Tris-saturated phenol to the Doff tube for protein extraction;

[0028] 3) Centrifuge at 13000rpm for 10min at 4°C;

[0029] 4) Transfer about 400 μL of the supernatant to another clean Doff tube, and add an equal volume of isopropanol;

[0030] 5) Centrifuge at 13000rpm at 4°C for 10 minutes, discard the supernatant;

[0031] 6) Add 1mL of pre-cooled 70% alcohol to the Doff tube;

[0032] 7) Centrifuge at 13000rpm at 4°C for 10 minutes, discard the supernatant;

[0033]...

Embodiment 3

[0067] Example 3: Statistics on the incidence of tumors in mice of different generations

[0068] During the breeding process of mice, it was recorded as a case that tumors were found in mice. in G1 mTR - / - Wrn - / - p53 S / S In the mouse population, a total of 11 mice died of aging, among which 3 mice died of tumors; G2 mTR - / - Wrn - / - p53 S / S In the mouse population, 8 mice died of aging, including 1 mouse that died of tumor; G3 mTR - / - Wrn - / - p53 S / S In the mouse population, 29 mice died of aging, among which 20 mice died of tumors, which is the tumor incidence rate of mice of different generations ( figure 2 ).

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Abstract

The invention discloses new application of P53 gene mutation and telomere dysfunction, namely, application of a reagent for detecting cancer suppressor gene P53 gene mutation and telomere dysfunction in preparing a reagent for clinical diagnosis of polycystic kidney disease, or the application of P53 gene mutation and telomere dysfunction in screening the therapeutics for the polycystic kidney disease. An experimental result shows that the hybrid descendant of the mice with p53N236S gene mutation and the mice suffering from Werner syndrome (WS) suffers from the polycystic kidney disease so that a novel PKD disease model is acquired. According to the application, the condition that the happening of the polycystic kidney disease possibly is a new phenomenon of abnormal proliferation of kidney cells caused by the combined action of mutation p53 and aging signal is discovered for the first time. Through the discovery, the pathogenesis of the polycystic kidney disease is enriched, and a new biomarker for the clinical diagnosis of the polycystic kidney disease is provided.

Description

technical field [0001] The invention belongs to the field of biotechnology, and specifically relates to the application of a reagent for detecting p53 gene mutation and abnormal telomere function in the preparation of polycystic kidney disease diagnostic reagents, and its application as a screening target for polycystic kidney disease treatment drugs. Background technique [0002] Polycystic kidney disease (PKD) is a common human genetic disease, often classified into autosomal dominant genetic disease and recessive genetic disease. After adulthood, the frequently-occurring disease group manifests as kidneys of different sizes, cysts, and fluid-filled. The cyst will increase progressively, and the enlarged cyst will compress the renal parenchyma and cause a series of symptoms. The structure and function of the kidney will also be gradually destroyed, eventually leading to renal failure. Current studies have shown that the pathogenesis of PKD is caused by mutations in the PK...

Claims

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Application Information

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IPC IPC(8): C12Q1/68
CPCC12Q1/6883C12Q2600/156C12Q2600/136
Inventor 李海丽罗瑛吴晓明邵驰浩徐莉萍李翠张永进杨举伦
Owner KUNMING UNIV OF SCI & TECH
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