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

作者：Podlesniy Petar; Llorens Franc; Golanska Ewa; Sikorska Beata; Liberski Pawel; Zerr Inga; Trullas Ramon^*

来源：Alzheimer's and Dementia, 2016, 12(5): 546-555.

DOI：10.1016/j.jalz.2015.12.011

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

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 neuro-degenerative 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 A beta, 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.

• 出版日期2016-5