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Application of PI3K (phosphatidylinositol-3-kinase) inhibitor

A technology of phosphatidylinositol and kinase inhibitors, applied in the field of genes, can solve the problems of unclear pathogenesis, no specific treatment for Joubert syndrome, etc., and achieve the effect of improving prognosis

Active Publication Date: 2015-07-29
TONGJI UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

As the pathogenesis is still unclear, clinically there is no specific treatment for Joubert syndrome, mainly relying on rehabilitation

Method used

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  • Application of PI3K (phosphatidylinositol-3-kinase) inhibitor
  • Application of PI3K (phosphatidylinositol-3-kinase) inhibitor
  • Application of PI3K (phosphatidylinositol-3-kinase) inhibitor

Examples

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Embodiment

[0018] LY294002 and dnPI3K used to rescue polycystic kidney phenotype caused by downregulation of inpp5e

[0019] Step 1: Injection of inpp5e morpholino oligonucleotides causes polycystic kidney phenotype in zebrafish embryos

[0020] Zebrafish embryos at the 1-2 cell stage were injected with 6 pg of inpp5e morpholino (5′-GCTCACTCATCCTATTGGCGGGCTT-3′, whose sequence is shown in SEQ ID NO.1) synthesized by GeneTools and control group ctrl morpholino respectively. Oligonucleotide (5'CCTCTTACCTCAGTTACAATTTATA-3', sequence shown in SEQ ID NO.2) 6pg. At 72 hours (hour post fertilization, hpf), compared with the normal ctrl group, about 70% of embryos injected with inpp5e morpholino (inpp5emorphant) developed renal cysts. Co-injection of inpp5e mRNA in inpp5e morphants rescued the renal cyst phenotype. Immunofluorescence staining after Dent’s fixed embryos found that the mid-section renal ducts of inpp5e morphant embryos were enlarged and both multicilium and monocilia were absent...

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Abstract

The invention relates to an application of a PI3K (phosphatidylinositol-3-kinase) inhibitor used for preparing a drug for treating the Joubert syndrome. The PI3K inhibitor inhibits the activity of PI3K and relieves phenotypes of the Joubert syndrome caused by inpp5e deficiency. Compared with the prior art, the PI3K inhibitor can effectively improve phenotypes such as the polycystic kidney and the like of Joubert syndrome model animals and has potential clinic application value for improving prognosis of Joubert syndrome patients.

Description

technical field [0001] The invention belongs to the field of gene technology, and in particular relates to the application of a phosphatidylinositol 3-kinase inhibitor in Joubert syndrome. Background technique [0002] Joubert syndrome is a polygenic autosomal recessive genetic disorder, a type of "ciliopathies" caused by cilia defects, and its incidence rate is about 1 / 1,000,000. Clinical manifestations mainly include cerebellar vermis dysplasia, retinal atrophy, renal cyst, polydactyly (toe) deformity and so on. inpp5e (Inositol polyphosphate 5-phosphatase E) is one of the causative genes of Joubert syndrome identified in 2009, and its protein product INPP5E is a phosphoinositide hydrolase. In vitro enzyme activity is mainly manifested in the conversion of PI(3,4,5)P 3 (phosphoinositol-3,4,5-triphosphate) and PI(4,5)P 2 (phosphoinositol-4,5-triphosphate) hydrolysis to PI(3,4)P 2 (phosphoinositol-3,4-biphosphate) and PI(4)P(phosphoinositol-4-phosphate), the body may onl...

Claims

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Application Information

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IPC IPC(8): A61K45/00A61K31/5377A61P43/00A61P13/12
Inventor 曹莹王宏许纹衍
Owner TONGJI UNIV