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The application of the marker clptm1 in the diagnosis and treatment of epilepsy

A technology in epilepsy and samples, which is applied in the field of CLPTM1 gene mutation and its application, and can solve problems such as inability to diagnose before onset

Active Publication Date: 2021-08-31
PEKING UNIV FIRST HOSPITAL
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0003] In order to solve the technical problems existing in the field of epilepsy medicine, the present invention provides a biomarker of epilepsy, which can be used to evaluate whether the sample is a sample of epilepsy patients at the beginning of the onset; or as a pre-pregnancy early warning to determine whether the mutant CLPTM1 Whether the offspring of the gene carrier has the risk of suffering from epilepsy, and the biomarkers provided by the present invention can be used to develop drugs for the treatment or prevention of epilepsy, which provides a new idea and means for the treatment or prevention of epilepsy, and solves the current problem Technical problems in the field of epilepsy research that do not allow prediagnosis

Method used

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  • The application of the marker clptm1 in the diagnosis and treatment of epilepsy
  • The application of the marker clptm1 in the diagnosis and treatment of epilepsy
  • The application of the marker clptm1 in the diagnosis and treatment of epilepsy

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Embodiment 1

[0069] 1. Research population

[0070] In order to study the relationship between the CLPTM1 gene and epilepsy patients, two groups were set up for analysis, namely the patient group and the control group, as follows:

[0071] 1.1 Patient Group

[0072] The patient group selected children with epilepsy from Peking University First Hospital as the research object, and the specific inclusion criteria are as follows:

[0073] 1) No clear history of perinatal brain injury;

[0074] 2) No clear history of cerebral hypoxia, ischemia, central nervous system infection or head trauma;

[0075] 3) Exclude known genetic metabolic diseases and genetic neurodegenerative diseases;

[0076] 4) Normal karyotype;

[0077] 5) The known epilepsy gene test is negative.

[0078] Collect the clinical data of the enrolled children and sign an informed consent form with the guardians of the children. At the same time, the peripheral blood of the children and their parents is collected, and the g...

Embodiment 2

[0094] Example 2 sequence verification

[0095] The method of Sanger sequencing was used to verify and detect the two mutation sites of the CLPTM1 gene, and the verification results were as follows Figure 4 and Figure 5 shown, according to Figure 4 , 5 The verification results shown show that exon missense mutations c.1703G>A and c.1361G>A occurred in the CLPTM1 gene of patients with epilepsy.

Embodiment 3

[0096] Example 3 Cytology Experiment Verification

[0097] GABAergic neurons are the main inhibitory neurons in the central nervous system and are closely related to epilepsy. The decline of GABAergic neuron function will lead to excessive discharge of neuron network, thereby causing epilepsy. Therefore, the present invention uses cytology experimental method to verify the influence of p.R568Q and p.R454H mutation on GABA current, so as to judge whether the mutation is related to epilepsy. Relationship.

[0098] In order to explore the effects of the two single amino acid substitutions caused by the above two mutations (p.R568Q and p.R454H mutations) on GABAergic neurons, this example constructed wild-type (WT) and two kinds of R568Q-expressing Or the mutant plasmid of the R454H mutation site (c.1703G>A: p.R568Q and c.1361G>A: p.R454H), and transiently transfect CRL-2029 cells with the constructed plasmid. After the successful transfer of the constructed plasmid into CRL-202...

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Abstract

The invention discloses the application of a marker CLPTM1 in the diagnosis and treatment of epilepsy. The biomarker can be used to evaluate whether the sample is a sample of an epilepsy patient at the beginning of the onset of the disease; or as a pre-pregnancy early warning to determine the carrier of the mutant CLPTM1 gene. Whether the offspring has the risk of suffering from epilepsy, and the biomarkers provided by the present invention can be used to develop drugs for the treatment or prevention of epilepsy, which provides a new idea and means for the treatment or prevention of epilepsy, and solves the problem in the current field of epilepsy research. A technical problem that cannot be diagnosed before the onset of the disease.

Description

technical field [0001] The invention relates to the field of gene biology, in particular to epilepsy-related CLPTM1 gene mutation and its application. Background technique [0002] Epilepsy is a common neurological disorder. In the world, the overall incidence of epilepsy is 50 / 100,000. The incidence of childhood epilepsy is higher. 60% of epilepsy patients in China originated in childhood. The annual incidence of epilepsy in children aged 0-14 is 151 / 100,000, and the prevalence rate is 3.45‰ (Ma 2012). Currently, epilepsy is still a clinically intractable disease. Most epilepsy diseases require long-term treatment, and some even require life-long treatment, and its mortality rate is also significantly higher than that of the normal population. Patients with epilepsy are often combined with other physical and mental diseases, which brings a heavy burden to patients and their families. Although the pathogenesis and clinical diagnosis and treatment of epilepsy have always ...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883G01N33/68
CPCC12Q1/6883C12Q2600/136C12Q2600/156G01N33/6893G01N2800/2857
Inventor 姜玉武栗金亮高凯
Owner PEKING UNIV FIRST HOSPITAL
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