Summary of Study ST002452

This data is available at the NIH Common Fund's National Metabolomics Data Repository (NMDR) website, the Metabolomics Workbench, https://www.metabolomicsworkbench.org, where it has been assigned Project ID PR001581. The data can be accessed directly via it's Project DOI: 10.21228/M8BD85 This work is supported by NIH grant, U2C- DK119886.

See: https://www.metabolomicsworkbench.org/about/howtocite.php

This study contains a large results data set and is not available in the mwTab file. It is only available for download via FTP as data file(s) here.

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Study IDST002452
Study TitleLipidomic analysis of human brain from frontotemporal dementia cases of with GRN and C9orf72 mutations
Study SummaryLipidomic analysis carried out on postmortem human brain tissue from cases with FTD carrying inherited mutations in the GRN gene, or repeat expansions in the C9orf72 gene, and age-matched control cases. Tissue was sampled from the heavily affected superior frontal grey and white matter, and less heavily affected superior parietal grey and white matter.
Institute
The University of Sydney
Last NameDon
First NameAnthony
AddressOffice 3217, D17 Charles Perkins Centre, Camperdown, NSW, 2006, Australia
Emailanthony.don@sydney.edu.au
Phone+61286275578
Submit Date2023-01-19
Num Groups3
Total Subjects28
Num Males13
Num Females15
Raw Data AvailableYes
Raw Data File Type(s)mzXML
Analysis Type DetailLC-MS
Release Date2023-03-01
Release Version1
Anthony Don Anthony Don
https://dx.doi.org/10.21228/M8BD85
ftp://www.metabolomicsworkbench.org/Studies/ application/zip

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Project:

Project ID:PR001581
Project DOI:doi: 10.21228/M8BD85
Project Title:Frontotemporal Dementia Human Brain Lipidomics
Project Summary:Frontotemporal dementia (FTD) lipidomic study of human brain from cases with GRN or C9orf72 mutations or controls. We aimed to determine how inherited mutations that cause FTD affect the brain lipidome. Both heterozygous GRN mutations and C9orf72 repeat expansions cause FTD with TDP-43 pathology, but GRN mutation carriers appear to have significant white matter pathology as seen by MRI. Our study uncovered significant loss of myelin sphingolipids in the heavily affected superior frontal white matter in both FTD groups, but GRN carriers show more severe myelin attrition than C9orf72 repeat expansion carriers. GRN carriers also showed selective increase in cholesterol esters and sphingosine in the less affected superior parietal white matter.
Institute:The University of Sydney
Last Name:Don
First Name:Anthony
Address:Office 3217, D17 Charles Perkins Centre, Camperdown, NSW, 2006, Australia
Email:anthony.don@sydney.edu.au
Phone:+61286275578
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