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MetabolomicsSex differences modulate blood metabolome profiles in Parkinson’s disease patients harbouring rare genetic variants

Background: Recent findings from our group indicate that sex differences in Parkinson's disease (PD) patients with idiopathic conditions or carrying pathogenic mutations significantly influence the blood occurrence of D and L-amino acids, lipids, antioxidants, and energy-related metabolites when ...

2026-06-26 | MTBLS12746 | MetaboLights
MetabolomicsAn Unbiased Lipid Phenotyping Approach To Study the Genetic Determinants of Lipids and Their Association with Coronary Heart Disease Risk Factors
Direct infusion high-resolution mass spectrometry (DIHRMS) is a novel, high-throughput approach to rapidly and accurately profile hundreds of lipids in human serum without prior chromatography, facilitating in-depth lipid phenotyping for large epidemiological studies to reveal the detailed associati...
2024-02-02 | MTBLS4461 | MetaboLights
MetabolomicsRare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism

We investigated the cumulative contribution of rare, exonic genetic variants on the concentration of 1,487 metabolites and 53,714 metabolite ratios in urine by performing gene-based tests based on 226,233 variants from up to 4,864 participants of the German Chronic Kidney Disease (GCKD)...

2021-03-09 | MTBLS284 | MetaboLights
MetabolomicsRare and common genetic determinants of metabolic individuality and their effects on human health (EPIC-Norfolk study assays)

Garrod’s concept of “chemical individuality” has contributed to comprehension of the molecular origins of human diseases. Untargeted high-throughput metabolomic technologies provide an in-depth snapshot of human metabolism at scale. We studied the genetic architecture of the human plasma metabolo...

2022-09-09 | MTBLS833 | MetaboLights
MetabolomicsThe impact of genetic stress by ATGL deficiency on the lipidome of lipid droplets from murine hepatocytes
We showed earlier that nutritional stress like starvation or high fat diet resulted in phenotypic changes in the lipidomes of hepatocyte lipid droplets (LDs), representative for the pathophysiological status of the mouse model. Here we extend our former study by adding genetic stress due to knock-ou...
2014-08-19 | MTBLS81 | MetaboLights
MetabolomicsMetabolomics of sebum reveals lipid dysregulation in Parkinson's disease
Parkinson's disease (PD) is a progressive neurodegenerative disorder, which is characterised by degeneration of distinct neuronal populations, including dopaminergic neurons of the substantia nigra. Here, we use a metabolomics profiling approach to identify changes to lipids in PD observed in sebum,...
2020-12-21 | MTBLS2266 | MetaboLights
MetabolomicsRare and common genetic determinants of metabolic individuality and their effects on human health (INTERVAL study assays)

Garrod’s concept of “chemical individuality” has contributed to comprehension of the molecular origins of human diseases. Untargeted high-throughput metabolomic technologies provide an in-depth snapshot of human metabolism at scale. We studied the genetic architecture of the human plasma metabolo...

2022-09-09 | MTBLS834 | MetaboLights
MetabolomicsIntegration of metabolomics, genomics and immune phenotypes reveals the causal roles of metabolites in disease

BACKGROUND: Recent studies highlight the role of metabolites in immune diseases, but it remains unknown how much of this effect is driven by genetic and non-genetic host factors.

RESULT: We systematically investigate circulating metabolites in a cohort of 5...

2021-06-14 | MTBLS2633 | MetaboLights
MetabolomicsDissection of metabolic reprogramming in polycystic kidney disease reveals coordinated rewiring of bioenergetic pathways
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a genetic disorder caused by loss-of-function mutations in PKD1 or PKD2. Increased glycolysis is a prominent feature of the disease, but how it impacts on other metabolic pathways is unknown. Here, we present an analysis of mouse Pkd1 mutant ce...
2019-06-07 | MTBLS677 | MetaboLights
MetabolomicsBiochemical Profiling of the Brain and Blood Metabolome in a Mouse Model of Prodromal Parkinson’s Disease Reveals Distinct Metabolic Profiles (NMR assay)
Parkinson’s disease is the second most common neurodegenerative disease. In the vast majority of cases the origin is not genetic and the cause is not well understood, although progressive accumulation of α-synuclein aggregates appears central to the pathogenesis. Currently, treatments that slow dise...
2019-02-07 | MTBLS640 | MetaboLights
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