High-resolution respirometry of fine-needle muscle biopsies in pre-manifest Huntington’s disease expansion mutation carriers shows normal mitochondrial respiratory function - Buck, Eva; Zügel, Martina; Schumann, Uwe; Merz, Tamara; Gumpp, Anja M.; Witting, Anke; Steinacker, Jürgen M.; Landwehrmeyer, G. Bernhard; Weydt, Patrick; Calzia, Enrico; Lindenberg, Katrin S. (PloS one, 2017)
Keywords: Abdomen; Accessibility; Adenocarcinoma; Adult; Aged; Aging; Aging (artificial); Animal models; Animals; Atrophy; Biochemical markers; Biochemistry; Bioenergetics; Biology and Life Sciences; Biomarkers; Biopsy; Biopsy, Fine-Needle; Brain; Calcium; Calcium permeability; Cardiac muscle; Care and treatment; Carriers; Cell death; Central nervous system; Chorea; Citrate synthase; Control theory; Cortex; Cytochrome; Defects; DNA, Mitochondrial - genetics; DNA, Mitochondrial - metabolism; Enzymatic activity; Excitotoxicity; Expansion; Female; Food intake; Gene expression; Genetic aspects; Heart; Heart diseases; High resolution; Histopathology; Human subjects; Humans; Huntingtin Protein - genetics; Huntington Disease - genetics; Huntington Disease - metabolism; Huntington's disease; Huntingtons disease; Identification methods; Inhibition; Liver; Male; Medical research; Medicine; Medicine and Health Sciences; Metabolism; Mice; Mice, Transgenic; Middle Aged; Mitochondria; Mitochondria, Muscle - genetics; Mitochondria, Muscle - metabolism; Mitochondrial DNA; Mortality; Movement disorders; Muscle, Skeletal - metabolism; Musculoskeletal system; Mutation; Neostriatum; Nervous system; Neurodegenerative diseases; Neurology; Organs; Oxidative phosphorylation; Oxygen Consumption; Permeability; Physiological aspects; Platelets; Proteins; Rehabilitation; Research and Analysis Methods; Respiration; Respiratory function; Risk factors; Rodents; Skeletal muscle; Studies; Tissues; Translocation; Germany