Cerebrospinal fluid mitochondrial DNA in the Alzheimer's disease continuum
| Autor: | Ainara Estanga, Alberto Lleó, Clàudia Escalas, Daniel Alcolea, Jordi Clarimón, Mirian Ecay-Torres, Jorge Villanua, Montserrat Clerigue, Laura Cervera-Carles, Rafael Blesa, Pablo Martinez-Lage, Andrea Izagirre, Maite Garcia-Sebastian, Juan Fortea |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Genetic Markers Male Aging Mitochondrial DNA Pathology medicine.medical_specialty Disease Biology DNA Mitochondrial Polymerase Chain Reaction 03 medical and health sciences 0302 clinical medicine Cerebrospinal fluid Alzheimer Disease medicine Humans Digital polymerase chain reaction Aged General Neuroscience Area under the curve Middle Aged Phenotype 030104 developmental biology ROC Curve Female Neurology (clinical) Geriatrics and Gerontology 030217 neurology & neurosurgery Biomarkers Developmental Biology |
| Zdroj: | Neurobiology of aging. 53 |
| ISSN: | 1558-1497 |
| Popis: | Low levels of cell-free mitochondrial DNA (mtDNA) in the cerebrospinal fluid (CSF) of Alzheimer's disease (AD) patients have been identified and proposed as a novel biomarker for the disease. The lack of validation studies of previous results prompted us to replicate this finding in a comprehensive series of patients and controls. We applied droplet digital polymerase chain reaction in CSF specimens from 124 patients representing the AD spectrum and 140 neurologically healthy controls. The following preanalytical and analytical parameters were evaluated: the effect of freeze-thaw cycles on mtDNA, the linearity of mtDNA load across serial dilutions, and the mtDNA levels in the diagnostic groups. We found a wide range of mtDNA copies, which resulted in a high degree of overlap between groups. Although the AD group presented significantly higher mtDNA counts, the receiver-operating characteristic analysis disclosed an area under the curve of 0.715 to distinguish AD patients from controls. MtDNA was highly stable with low analytical variability. In conclusion, mtDNA levels in CSF show a high interindividual variability, with great overlap within phenotypes and presents low sensitivity for AD. |
| Databáze: | OpenAIRE |
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