title: Functional diagnostics in mitochondrial diseases.
abstract: Mitochondrial diseases (MD) with respiratory chain defects are caused by genetic mutations that determine an impairment of the electron transport chain functioning. Diagnosis often requires a complex approach with measurements of serum lactate, magnetic resonance spectroscopy (MRS), muscle histology and ultrastructure, enzymology, genetic analysis, and exercise testing. The ubiquitous distribution of the mitochondria in the human body explains the multiple organ involvement. Exercise intolerance is a common symptom of MD, due to increased dependence of skeletal muscle on anaerobic metabolism, with an excess lactate generation, phosphocreatine depletion, enhanced free radical production, reduced oxygen extraction and electron flux through the respiratory chain. MD treatment has included antioxidants (vitamin E, alpha lipoic acid), coenzyme Q10, riboflavin, creatine monohydrate, dichloroacetate and exercise training. Exercise is a particularly important tool in diagnosis as well as in the management of these diseases.
authors.affiliation: Department of Neuroscience, Section of Neurology, University of Pisa, Via Roma 67, 56126, Pisa, Italy. g.siciliano@med.unipi.it
authors.forename: Gabriele
authors.initials: G
authors.lastname: Siciliano
authors.forename: Leda
authors.initials: L
authors.lastname: Volpi
authors.forename: Selina
authors.initials: S
authors.lastname: Piazza
authors.forename: Giulia
authors.initials: G
authors.lastname: Ricci
authors.forename: Michelangelo
authors.initials: M
authors.lastname: Mancuso
authors.forename: Luigi
authors.initials: L
authors.lastname: Murri
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods; D004272:DNA, Mitochondrial / Q000235:genetics*; D005080:Exercise Test; D006801:Humans; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D017240:Mitochondrial Myopathies / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D018763:Muscle Fatigue / Q000502:physiology; D009154:Mutation
chemical_list: D004272:DNA, Mitochondrial