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Gene slc22a18 affecting fat metabolism and growth and development in children

A growth and development, pediatric technology, applied in the field of genetics

Active Publication Date: 2022-06-07
上海鸿准生物医药科技有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

At present, the main clinical response and treatment measures include fasting, drugs, exercise and surgery. However, because children are in the growth and development period, the specific stage of life determines that children under the age of 16 cannot undergo fasting, drugs, strenuous exercise and surgery. Surgery

Method used

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  • Gene slc22a18 affecting fat metabolism and growth and development in children
  • Gene slc22a18 affecting fat metabolism and growth and development in children
  • Gene slc22a18 affecting fat metabolism and growth and development in children

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0117] Detection of SLC22A18 whole blood mRNA expression

[0118] In the experimental scheme of the present invention, a phenomenon of clinical symptoms was first discovered: dwarfism patients were thin and small in childhood, and their BMI was low, and free fatty acids were found to be higher than the normal range in blood lipid testing; obesity symptoms appeared in middle age, accompanied by severe fatty liver.

[0119] This example is to detect the mRNA of short stature patients with low BMI and normal BMI controls in childhood, and divide them into two groups: normal control group and thin group, and normal control group and thin patient's family for comparison.

[0120] In molecular experiments, use Beijing Biotech Blood (liquid sample) Total RNA Rapid Extraction Kit (Cat: RP4002) to extract whole blood RNA, take 1ug RNA for a reverse transcription, reverse transcription using Takara's PrimeScript TM RT Reagent kit kit (Cat#RR037A), the cDNA obtained using Takara's SYBR ...

Embodiment 2

[0125] Immunofluorescence detection of SLC22A18+ positive cells

[0126] Peripheral blood cells were detected and divided into normal control group and dwarfism group, as well as normal control group and dwarfism patient family for comparison.

[0127] In the immunofluorescence test, first use specific antibodies to classify and mark blood cells: CD19+ to mark B cells, CD11b+ to mark monocytes and macrophages, and CD3+ to mark T cells; after classification, mark SLC22A18+ cells respectively to detect their positive rate. Abcam antibodies were used for all antibodies. Fluorescence detection by flow cytometry.

[0128] The detection results showed that SLC22A18 was abundantly expressed on B cells in whole blood ( image 3 ); T cell expression is very low ( Figure 4 ); the expression in mononuclear macrophages decreased significantly ( Figure 5 ).

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Abstract

The invention relates to the gene SLC22A18 affecting fat metabolism and children's growth and development. Specifically, the present invention provides the use of SLC22A18 gene, mRNA, cDNA, or protein or its detection reagents as markers for detecting abnormal lipid metabolism; and / or for preparing diagnostic reagents or kits for detecting abnormal lipid metabolism. The SLC22A18 gene is closely related to short (thin) stature and childhood obesity. It can be used as a biomarker of abnormal development and metabolism, and finds a new potential clinical therapeutic target for childhood obesity or short stature.

Description

technical field [0001] The present invention relates to the field of genetics, more specifically relates to the gene SLC22A18 affecting fat metabolism and growth and development of children. Background technique [0002] The growth and development of children has always been one of the most important concerns of the society in the field of health. According to statistics in 2013, Shanghai, Beijing and other developed regions have reached an obesity rate of 21%, that is, one out of every five children is obese. Metabolic abnormalities in children are likely to cause endocrine abnormalities, and the most common clinical manifestations include thyroid disease, precocious puberty, short stature, and obesity metabolic syndrome. We mainly focus on abnormal growth and development in children related to abnormal lipid metabolism, including short (thin) stature and obesity. [0003] The etiology of short (thin) small syndrome is complex and diverse, and the etiological composition ...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883G01N33/68
CPCG01N33/6893C12Q1/6883G01N2800/04G01N2800/046G01N2800/048G01N2800/044G01N2800/085C12Q2600/158
Inventor 乔荆
Owner 上海鸿准生物医药科技有限公司
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