Looking for breakthrough ideas for innovation challenges? Try Patsnap Eureka!

Use of C26:0-acylcarnitine as marker of brain-type X-ALD (X-linked adrenoleukodystrophy) disease screening

A technology for acylcarnitines and uses, applied in the field of C26:0-acylcarnitines, can solve the problem of not specifically targeting cerebral ALD cases and the like

Active Publication Date: 2019-02-12
SHANGHAI CHILDRENS HOSPITAL +1
View PDF4 Cites 0 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

In 2016, Stephen's research group at the University of Amsterdam in the Netherlands found increased C26:0-acylcarnitine levels in the blood of 10 adult AMN-type ALD patients (PLoS ONE.11(4):e0154597), but then the research group found in neonatal samples In the study, it is also considered that C26:0-acylcarnitine is not suitable as a biomarker for screening X-ALD disease (MolGenet Metab.122:209-215), the author clearly stated this conclusion in the abstract of the paper
But so far, studies on early screening for X-ALD have not looked specifically at cases of cerebral ALD

Method used

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
View more

Image

Smart Image Click on the blue labels to locate them in the text.
Viewing Examples
Smart Image
  • Use of C26:0-acylcarnitine as marker of brain-type X-ALD (X-linked adrenoleukodystrophy) disease screening
  • Use of C26:0-acylcarnitine as marker of brain-type X-ALD (X-linked adrenoleukodystrophy) disease screening
  • Use of C26:0-acylcarnitine as marker of brain-type X-ALD (X-linked adrenoleukodystrophy) disease screening

Examples

Experimental program
Comparison scheme
Effect test

Embodiment Construction

[0018] Detection method

[0019] Source of samples The new screening center of Shanghai Children's Hospital collected 7 samples of brain-type ALD patients, aged 2-8 years, all male, 4 of them had vision loss or visual impairment, 1 showed mental retardation, All cases underwent MRI examination, all showed leukodystrophic changes. We obtained 5 patients with VLCFAs analysis results, the other 2 patients we did not get the analysis results for other reasons. In the results of 5 cases, C26:0-VLCFA, C26:0 / C22:0-VLCFA and C24:0 / C26:0-VLCFA all exceeded the normal value, and the C24:0-VLCFA of 2 patients also exceeded the normal value value. The ABCD1 gene sequencing results of 7 patients showed that the gene had missense mutations or frameshift mutations. In conclusion, these 7 patients were diagnosed as patients with cerebral ALD. We collected blood samples from 3496 healthy neonates from the New Screening Center of Shanghai Children's Hospital as controls. All blood samples ...

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

PUM

No PUM Login to View More

Abstract

The invention belongs to the field of medical detection, and particularly relates to new use of C26:0-acylcarnitine. The invention discloses the use of the C26:0-acylcarnitine in preparing a brain-type X-ALD (X-linked adrenoleukodystrophy) early-screening kit. The invention discloses, for the first time, the use of the C26:0-acylcarnitine in preparing the brain-type X-ALD screening detection kit,an erroneous conclusion which is recognized in the prior art and is that the C26:0-acylcarnitine is unsuitable for use as a biomarker of neonatal X-ALD disease screening is corrected, and new optionsare provided for brain-type X-ALD detection, especially for early screening of neonatal brain-type X-ALD.

Description

technical field [0001] The invention belongs to the field of medical detection, and specifically relates to a new application of C26:0-acylcarnitine. Background technique [0002] X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisome disease. The disease is due to the mutation of the disease-causing gene ABCD1 located on the X chromosome, which leads to the inability of the peroxisomes in the patient's cells to β-oxidize saturated very long-chain fatty acids (VLCFAs), resulting in the formation of VLCFAs in the blood, brain, spinal cord, and adrenal glands. A large number of accumulations in the cortex and other organs and tissues cause demyelination of the nervous system and atrophy or dysplasia of the adrenal cortex and cause disease. The incidence of X-ALD is about 1 / 21000 males and 1 / 14000 females. [0003] The clinical manifestations of X-ALD are complex and diverse, and there are two most common manifestations: cerebral ALD in children and adrenomyelopa...

Claims

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

Application Information

Patent Timeline
no application Login to View More
IPC IPC(8): G01N30/02
CPCG01N30/02
Inventor 徐锋田国力王燕敏
Owner SHANGHAI CHILDRENS HOSPITAL
Who we serve
  • R&D Engineer
  • R&D Manager
  • IP Professional
Why Patsnap Eureka
  • Industry Leading Data Capabilities
  • Powerful AI technology
  • Patent DNA Extraction
Social media
Patsnap Eureka Blog
Learn More
PatSnap group products

Browse by: Latest US Patents, China's latest patents, Technical Efficacy Thesaurus, Application Domain, Technology Topic, Popular Technical Reports.

© 2024 PatSnap. All rights reserved.Legal|Privacy policy|Modern Slavery Act Transparency Statement|Sitemap|About US| Contact US: help@patsnap.com