Resolving Phenotypic Variability in Mitochondrial Diseases: Preliminary Findings of a Proteomic Approach

• Published in: International journal of molecular sciences Vol. 25; no. 19; p. 10731
• Main Authors: Cicchinelli, Michela, Primiano, Guido, Servidei, Serenella, Ardito, Michelangelo, Percio, Anna, Urbani, Andrea, Iavarone, Federica
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 01.10.2024; MDPI
• Subjects: Adult; Biopsy; Carbohydrates; Diagnosis; Disease; DNA Helicases - genetics; DNA Helicases - metabolism; DNA, Mitochondrial - genetics; Female; Genes; Genetic aspects; Genotype & phenotype; Glucose; Humans; Male; Metabolism; mitochondria; Mitochondrial diseases; Mitochondrial Diseases - genetics; Mitochondrial Diseases - metabolism; Mitochondrial DNA; Mitochondrial Proteins - genetics; Mitochondrial Proteins - metabolism; Musculoskeletal system; Mutation; omics technologies; Ontology; Patients; PEO; Phenotype; Proteins; Proteomics; Proteomics - methods; Urine; Italy; omics technologies; mitochondrial diseases; PEO; proteomics; mitochondria

The introduction of new sequencing approaches into clinical practice has radically changed the diagnostic approach to mitochondrial diseases, significantly improving the molecular definition rate in this group of neurogenetic disorders. At the same time, there have been no equal successes in the are...