title: The brain is hypothermic in patients with mitochondrial diseases.
abstract: We sought to study brain temperature in patients with mitochondrial diseases in different functional states compared with healthy participants. Brain temperature and mitochondrial function were monitored in the visual cortex and the centrum semiovale at rest and during and after visual stimulation in seven individuals with mitochondrial diseases (n=5 with mitochondrial DNA mutations and n=2 with nuclear DNA mutations) and in 14 age- and sex-matched healthy control participants using a combined approach of visual stimulation, proton magnetic resonance spectroscopy (MRS), and phosphorus MRS. Brain temperature in control participants exhibited small changes during visual stimulation and a consistent increase, together with an increase in high-energy phosphate content, after visual stimulation. Brain temperature was persistently lower in individuals with mitochondrial diseases than in healthy participants at rest, during activation, and during recovery, without significant changes from one state to another and with a decrease in the high-energy phosphate content. The lowest brain temperature was observed in the patient with the most deranged mitochondrial function. In patients with mitochondrial diseases, the brain is hypothermic because of malfunctioning oxidative phosphorylation. Neuronal activity is reduced at rest, during physiologic brain stimulation, and after stimulation.
authors.affiliation: 1] Department of Neurological Sciences, IRCCS Ca' Granda-Ospedale Maggiore Policlinico Foundation, University of Milan, Milan, Italy [2] Magnetic Resonance Spectroscopy Center, IRCCS Ca' Granda-Ospedale Maggiore Policlinico Foundation, University of Milan, Milan, Italy.
authors.forename: Mario
authors.initials: M
authors.lastname: Rango
authors.affiliation: 1] Department of Neurological Sciences, IRCCS Ca' Granda-Ospedale Maggiore Policlinico Foundation, University of Milan, Milan, Italy [2] Magnetic Resonance Spectroscopy Center, IRCCS Ca' Granda-Ospedale Maggiore Policlinico Foundation, University of Milan, Milan, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Arighi
authors.affiliation: 1] Department of Neurological Sciences, IRCCS Ca' Granda-Ospedale Maggiore Policlinico Foundation, University of Milan, Milan, Italy [2] Magnetic Resonance Spectroscopy Center, IRCCS Ca' Granda-Ospedale Maggiore Policlinico Foundation, University of Milan, Milan, Italy.
authors.forename: Cristiana
authors.initials: C
authors.lastname: Bonifati
authors.affiliation: Department of Neurological Sciences, IRCCS Ca' Granda-Ospedale Maggiore Policlinico Foundation, University of Milan, Milan, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Del Bo
authors.affiliation: Department of Neurological Sciences, IRCCS Ca' Granda-Ospedale Maggiore Policlinico Foundation, University of Milan, Milan, Italy.
authors.forename: Giacomo
authors.initials: G
authors.lastname: Comi
authors.affiliation: 1] Department of Neurological Sciences, IRCCS Ca' Granda-Ospedale Maggiore Policlinico Foundation, University of Milan, Milan, Italy [2] Magnetic Resonance Spectroscopy Center, IRCCS Ca' Granda-Ospedale Maggiore Policlinico Foundation, University of Milan, Milan, Italy.
authors.forename: Nereo
authors.initials: N
authors.lastname: Bresolin
mesh_terms: D000328:Adult; D001831:Body Temperature; D001921:Brain / Q000378:metabolism / Q000503:physiopathology*; D004272:DNA, Mitochondrial / Q000235:genetics; D004734:Energy Metabolism; D005071:Evoked Potentials; D005074:Evoked Potentials, Visual; D005260:Female; D006801:Humans; D007035:Hypothermia / Q000150:complications*; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D028361:Mitochondrial Diseases / Q000150:complications* / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology*; D009154:Mutation
chemical_list: D004272:DNA, Mitochondrial