Construction method, composition, kit and application of disease models related to abnormal glyoxylic acid metabolism

A technology of abnormal metabolism and construction method, which is applied in the field of construction of disease models related to abnormal glyoxylate metabolism, can solve problems such as inability to simulate, aggravate negative effects, and inability to simulate etiological characteristics, and achieve the effect of preventing and delaying the formation of stones
CN110250109BActive Publication Date: 2021-09-24XIN HUA HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE
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Patent Information

Authority / Receiving Office
CN ยท China
Patent Type
Patents(China)
Current Assignee / Owner
XIN HUA HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE
Publication Date
2021-09-24

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Abstract

The invention discloses a construction method, composition, kit and application of a disease model related to abnormal glyoxylic acid metabolism, and relates to the field of biotechnology. The construction method includes editing the Agxt gene of the target animal so that the encoded AGT protein has a D205N mutation. This construction method can obtain a new disease model related to abnormal glyoxylate metabolism. The disease model has high consistency of gene mutation and human gene mutation, early occurrence of high urinary oxalate, typical bladder stones formed spontaneously, and a single stone-induced disease model. The time for calcium oxalate and calcium deposition in the kidneys is shorter after drug induction, and the results obtained by using this model to study diseases related to abnormal glyoxylate metabolism, such as type โ…  primary hyperoxaluria or kidney stones, are more representative. more reliable.
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Description

Technical field

[0001] The present invention relates to the field of biotechnology, and in particular, there is a construction method, composition and kit and application of a acethemic metabolism-related disease model. Background technique

[0002] Type I primary hypertational uremia (Primary Hyperoxaluria Type 1, PH1) is an AGXT gene mutation encoded by Alanine-Glyoxylate Aminotransferase, AGT, which has been discovered. More than 170 mutant types) caused rare normally syndrome. AGXT gene mutation results in damage to the AGT activity of the liver, the process of catalyzed by glyoxylic acid into glycine ( figure 1 ), Resulting in a large amount of acetalic acid in the liver to be oxidized into sore acids and almost all from the kidney, forming highly poliform regions, thereby causing urinary articularity, more than 50% of PH1 patients progressed as end-stage nephropathy. PHL patients often recurrent renal stones (calcium oxalate stones are deposited in renal pelvis, urethra), r...

Claims

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