title: Mitochondrial DNA differentiates Alzheimer's disease from Creutzfeldt-Jakob disease.
abstract: Low content of cell-free mitochondrial DNA (mtDNA) in cerebrospinal fluid (CSF) is a biomarker of early stage Alzheimer's disease (AD), but whether mtDNA is altered in a rapid neurodegenerative dementia such as Creutzfeldt-Jakob disease is unknown.
  
  
  
  CSF mtDNA was measured using digital polymerase chain reaction (dPCR) in two independent cohorts comprising a total of 112 patients diagnosed with sporadic Creutzfeldt-Jakob disease (sCJD), probable AD, or non-Alzheimer's type dementia.
  
  
  
  Patients with AD exhibit low mtDNA content in CSF compared with patients diagnosed with sCJD or with non-Alzheimer's type dementias. The CSF concentration of mtDNA does not correlate with Aβ, t-tau, p-tau, and 14-3-3 protein levels in CSF.
  
  
  
  Low-CSF mtDNA is not a consequence of brain damage and allows the differential diagnosis of AD from sCJD and other dementias. These results support the hypothesis that mtDNA in CSF is a pathophysiological biomarker of AD.
authors.affiliation: Neurobiology Unit, Institut d'Investigacions Biomèdiques de Barcelona, Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain.
authors.forename: Petar
authors.initials: P
authors.lastname: Podlesniy
authors.affiliation: Department of Neurology, Clinical Dementia Center, University Medical School, Georg-August University and German Center for Neurodegenerative Diseases (DZNE), Göttingen, Germany.
authors.forename: Franc
authors.initials: F
authors.lastname: Llorens
authors.affiliation: Department of Molecular Pathology and Neuropathology, Medical University, Lodz, Poland.
authors.forename: Ewa
authors.initials: E
authors.lastname: Golanska
authors.affiliation: Department of Molecular Pathology and Neuropathology, Medical University, Lodz, Poland.
authors.forename: Beata
authors.initials: B
authors.lastname: Sikorska
authors.affiliation: Department of Molecular Pathology and Neuropathology, Medical University, Lodz, Poland.
authors.forename: Pawel
authors.initials: P
authors.lastname: Liberski
authors.affiliation: Department of Neurology, Clinical Dementia Center, University Medical School, Georg-August University and German Center for Neurodegenerative Diseases (DZNE), Göttingen, Germany.
authors.forename: Inga
authors.initials: I
authors.lastname: Zerr
authors.affiliation: Neurobiology Unit, Institut d'Investigacions Biomèdiques de Barcelona, Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain. Electronic address: ramon.trullas@iibb.csic.es.
authors.forename: Ramon
authors.initials: R
authors.lastname: Trullas
mesh_terms: D000544:Alzheimer Disease / Q000175:diagnosis*; D016229:Amyloid beta-Peptides / Q000134:cerebrospinal fluid; D015415:Biomarkers / Q000134:cerebrospinal fluid; D007562:Creutzfeldt-Jakob Syndrome / Q000175:diagnosis*; D004272:DNA, Mitochondrial / Q000134:cerebrospinal fluid*; D003937:Diagnosis, Differential; D006801:Humans; D016875:tau Proteins / Q000134:cerebrospinal fluid
chemical_list: D016229:Amyloid beta-Peptides; D015415:Biomarkers; D004272:DNA, Mitochondrial; D016875:tau Proteins
keywords: Alzheimer's disease; Biomarker; Cerebrospinal fluid; Creutzfeldt-Jakob disease; Digital PCR; Mitochondrial DNA