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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
MetabolomicsGenetic Ablation of Sfxn5 Induces Mitochondrial Dysfunction and Precipitates Lethal Metabolic Crisis in Mice
Mitochondrial disorders frequently manifest with life-threatening hepatic metabolic crises. Using a global Sfxn5-knockout mouse model, we investigated the systemic consequences of disrupting this mitochondrial inner-membrane transporter through integrated biochemical, metabolomic, histological, and ...
2026-05-30 | MTBLS14628 | MetaboLights
TranscriptomicsThe human mitochondrial transcriptome
The human mitochondrial genome comprises a distinct genetic system transcribed as precursor polycistronic transcripts that are subsequently cleaved to generate individual mRNAs, tRNAs and rRNAs. Here we provide a comprehensive analysis of the human mitochondrial transcriptome across multiple cell li...
ORGANISM(S): Homo sapiens 
2011-07-20 | E-GEOD-30772 | biostudies-arrayexpress
MetabolomicsX chromosome dosage drives statin-induced dysglycemia and mitochondrial dysfunction

Statin drugs lower blood cholesterol levels for cardiovascular disease prevention. Women are more likely than men to experience adverse statin effects, particularly new-onset diabetes (NOD) and muscle weakness. Here we find that impaired glucose homeostasis and muscle weakness in statin-treated f...

2024-05-23 | MTBLS9677 | MetaboLights
MetabolomicsMitochondrial metabolism sustains DNMT3A-R882-mutant clonal haematopoiesis
Somatic DNMT3A R882 codon mutations drive the most common form of clonal haematopoiesis (CH) and are associated with increased acute myeloid leukaemia (AML) risk1,2. Preventing expansion of DNMT3A-R882-mutant haematopoietic stem/progenitor cells (HSPCs) may therefore avert progression to AML. To ide...
2025-02-06 | MTBLS12201 | 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
MetabolomicsACOD1 deficiency promotes dermal papilla cell senescence via mitochondrial dysfunction in androgenetic alopecia

Background Androgenetic alopecia (AGA), the most prevalent form of hair loss, is driven by the dysfunction of dermal papilla cells (DPCs). Emerging evidence implicates DPC senescence in the pathogenesis of AGA; however, the underlying molecular mechanisms remain incompletely elucidated.

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2026-05-23 | MTBLS14024 | MetaboLights
MetabolomicsIntegrated Multi-Omics Mapping of Mitochondrial Dysfunction and Substrate Preference in Barth Syndrome Cardiac Tissue

Barth syndrome (BTHS) is a rare X-linked recessively inherited disorder caused by variants in the TAFAZZIN gene. The pathogenic variants lead to impaired conversion of monolysocardiolipin (MLCL) into mature phospholipid cardiolipin (CL). The accumulation of MLCL and mature CL deficiency is a diag...

2025-09-08 | MTBLS12953 | MetaboLights
MetabolomicsRibosomal mistranslation leads to silencing of the unfolded protein response and increased mitochondrial biogenesis

Translation fidelity is the limiting factor in the accuracy of gene expression. With an estimated frequency of 10-4, errors in mRNA decoding occur in a mostly stochastic manner. Little is known about the response of higher eukaryotes to chronic loss of ribosomal accuracy as per an increase in the...

2019-09-17 | MTBLS106 | MetaboLights
MetabolomicsGenotype to phenotype: Diet-by-mitochondrial DNA haplotype interactions drive metabolic flexibility and organismal fitness
Diet may be modified seasonally or by biogeographic, demographic or cultural shifts. It can differentially influence mitochondrial bioenergetics, retrograde signalling to the nuclear genome, and anterograde signalling to mitochondria. All these interactions have the potential to influence the freque...
2018-11-07 | MTBLS724 | MetaboLights
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