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Project

Metabolic rewiring in SORDD polyneuropathy: unraveling a polyol pathway disorder

Mitochondrial diseases are genetically and phenotypically diverse entities with a vast array of clinical presentations. To date, diagnosis is made by genetic analysis. However, it does necessarily reflect the severity of the disease. We aim to develop a phenotypic diagnostic test for mitochondrial diseases. First, a mitochondrial respiration assay will be developed with reference values by oxygraphy on platelets. The test will be validated on samples obtained from patients diagnosed with mitochondrial diseases and subsequently be correlated with clinical severity/presentation. Simultaneously several biomarkers will be appraised for diagnostic use in mitochondrial diseases. Currant pyruvate/lactate measurement has considerable preanalytical features, for which amino acids and/or polyols might have a role as a substitute. The concept is supported by preliminary data from patient-derived fibroblasts with respiratory chain defects.

Date:1 Oct 2021 →  Today
Keywords:Mitochondrial dysfunction, Diagnostic, phenotypic, biomarker
Disciplines:Intracellular compartments and transport, Proteomics
Project type:PhD project