Alzheimer's - Dementia, Author Interviews, Genetic Research, Mental Health Research / 16.08.2013
Alzheimer’s Disease : Novel Biomarker for Early Detection
MedicalResearch.com Interview with:
Dr. Ramon Trullas
Research Professor
CSIC Institute of Biomedical Research of Barcelona
MedicalResearch.com: What are the main findings of the study?
Answer: The findings reported in this manuscript that we consider can be underscored are:
1) Asymptomatic subjects at risk of developing sporadic Alzheimer’s disease (AD), as well as symptomatic patients diagnosed with probable sporadic AD show a low concentration of circulating cell free mitochondrial DNA (mtDNA) in cerebrospinal fluid (CSF).
2) Pre-symptomatic subjects carrying pathogenic PSEN1 gene mutations which cause early onset familial AD, also exhibit low mtDNA content in CSF.
3) Reduced mtDNA content in CSF occurs in preclinical PSEN1 mutation carriers at least one decade before patients are expected to manifest clinical signs of dementia and well before any alteration in currently known AD biomarkers.
4) Low mtDNA content in CSF distinguishes patients diagnosed with AD from either controls or patients with fronto-temporal lobar degeneration.
These findings indicate that the amount of circulating cell-free mtDNA content in CSF may be a novel biomarker for the early detection of AD in the preclinical stage of AD. Moreover, the observation that low mtDNA content in the CSF is associated with both sporadic and familial forms of AD suggests that, independently of the etiology, regulation of mtDNA content is a converging factor in the pathophysiology of AD.
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