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

Alzheimer's & Dementia : the Journal of the Alzheimer's Association
Petar PodlesniyRamon Trullas

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.

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Citations

Mar 27, 2016·Progress in Neurobiology·Franc LlorensInga Zerr
Mar 16, 2017·Multiple Sclerosis : Clinical and Laboratory Research·Cyra E LeursC E Teunissen
Mar 23, 2018·Current Genetic Medicine Reports·Perry G Ridge, John S K Kauwe
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Sep 19, 2020·International Journal of Molecular Sciences·Mar PérezJesús Avila
Sep 4, 2020·International Journal of Molecular Sciences·Petar PodlesniyRamon Trullas
Feb 6, 2017·Molecular Neurobiology·Daniela Morales-LaraEric Murillo-Rodríguez
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May 25, 2021·Journal of Alzheimer's Disease : JAD·Suélen Santos AlvesNorberto Garcia-Cairasco

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