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Alzheimers Dement. 2016 May;12(5):546-55. doi: 10.1016/j.jalz.2015.12.011. Epub 2016 Jan 21.

Mitochondrial DNA differentiates Alzheimer's disease from Creutzfeldt-Jakob disease.

Author information

1
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.
2
Department of Neurology, Clinical Dementia Center, University Medical School, Georg-August University and German Center for Neurodegenerative Diseases (DZNE), Göttingen, Germany.
3
Department of Molecular Pathology and Neuropathology, Medical University, Lodz, Poland.
4
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.

Abstract

INTRODUCTION:

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.

METHODS:

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.

RESULTS:

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.

DISCUSSION:

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.

KEYWORDS:

Alzheimer's disease; Biomarker; Cerebrospinal fluid; Creutzfeldt-Jakob disease; Digital PCR; Mitochondrial DNA

PMID:
26806388
DOI:
10.1016/j.jalz.2015.12.011
[Indexed for MEDLINE]

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