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Biomarkers of metabolic and mitochondrial function

Molecular classification
Other
01

Overview

"Biomarkers of metabolic and mitochondrial function" is a broad descriptive term for various molecules and measurable features in biological fluids (like blood, urine, CSF) that indicate the status of mitochondrial health or metabolic function. These are not molecular targets for drugs, but rather diagnostic tools used to detect, monitor, and stratify diseases related to mitochondrial dysfunction and abnormal metabolism. Commonly studied biomarkers include lactate, pyruvate, FGF-21, and GDF-15, though many others exist. These markers can help support diagnosis (often in concert with genetic or imaging studies), inform prognosis, and track disease status in metabolic and mitochondrial diseases. However, many are not specific and require further validation for widespread clinical use[1][2][4].

Other names
Biomarkers of mitochondrial diseaseMetabolic biomarkersMitochondrial dysfunction biomarkers
02

Biological functions

Diagnosis of metabolic/mitochondrial diseaseMonitoring metabolic statusPrognosis of mitochondrial disorders
03

Disease associations

Metabolic diseaseMitochondrial diseaseNeurodegenerative diseaseMuscular diseaseCardiovascular disease
04

Safety considerations

Lack of specificity for many biomarkers (may be abnormal in non-mitochondrial/metabolic diseases)Incomplete validation and insufficient longitudinal data for some proposed biomarkersPotential variability due to sample type, handling, or physiologic states
05

Biomarkers

LactatePyruvateLactate:pyruvate ratioCreatine kinaseCreatineAmino acid profilesGlutathioneMalondialdehydeGrowth Differentiation Factor 15 (GDF-15)Fibroblast Growth Factor 21 (FGF-21)GelsolinNeurofilament light-chainCirculating cell-free mitochondrial DNA (mtDNA)

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