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

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• 作者：Petar Podlesniy^a ; ^b ; ¹ ; Franc Llorens^c ; ¹ ; Ewa Golanska^d ; Beata Sikorska^d ; Pawel Liberski^d ; Inga Zerr^c ; Ramon Trullas^a ; ^b ; ^e ; ^{ramon.trullas@iibb.csic.es" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Mitochondrial DNA ; Cerebrospinal fluid ; Creutzfeldt-Jakob disease ; Alzheimer's disease ; Biomarker ; Digital PCR
• 刊名：Alzheimer's & Dementia
• 出版年：2016
• 出版时间：May 2016
• 年：2016
• 卷：12
• 期：5
• 页码：546-555
• 全文大小：1402 K

文摘

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.