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

AuthorsPodlesniy, Petar ; Trullas, Ramón
KeywordsMitochondrial DNA
Cerebrospinal fluid
Creutzfeldt-Jakob disease
Digital PCR
Alzheimer's disease
Issue DateMay-2016
CitationAlzheimer's and Dementia 12: 546-555 (2016)
AbstractIntroduction 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.
Publisher version (URL)https://doi.org/10.1016/j.jalz.2015.12.011
Identifiersdoi: 10.1016/j.jalz.2015.12.011
issn: 1552-5279
Appears in Collections:(IIBB) Artículos
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