Back to Search
Start Over
Plasma circulating cell-free mitochondrial DNA in the assessment of Friedreich's ataxia.
- Source :
-
Journal of the Neurological Sciences . Jun2016, Vol. 365, p82-88. 7p. - Publication Year :
- 2016
-
Abstract
- Friedreich's ataxia (FRDA) is one of the most devastating childhood onset neurodegenerative disease affecting multiple organs in the course of progression. FRDA is associated with mitochondrial dysfunction due to deficit in a nuclear encoded mitochondrial protein, frataxin. Identification of disease-specific biomarker for monitoring the severity remains to be a challenging topic. This study was aimed to identify whether circulating cell-free nuclear DNA (nDNA) and mitochondrial DNA (mtDNA) in blood plasma can be a potential biomarker for FRDA. Clinical information was assessed using International Cooperative Ataxia Rating Scale and the disease was confirmed using Long-range PCR for GAA repeat expansion within the gene encoding frataxin. The frataxin expression was measured using Western blot. Plasma nDNA and mtDNA levels were quantified by Multiplex real-time PCR. The major observation is that the levels of nDNA found to be increased, whereas mtDNA levels were reduced significantly in the plasma of FRDA patients (n = 21) as compared to healthy controls (n = 21). Further, plasma mtDNA levels showed high sensitivity (90%) and specificity (76%) in distinguishing from healthy controls with optimal cutoff indicated at 4.1 × 10 5 GE/mL. Interestingly, a small group of follow-up patients (n = 9) on intervention with, a nutrient supplement, omega-3 fatty acid (a known enhancer of mitochondrial metabolism) displayed a significant improvement in the levels of plasma mtDNA, supporting our hypothesis that plasma mtDNA can be a potential monitoring or prognosis biomarker for FRDA. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 0022510X
- Volume :
- 365
- Database :
- Academic Search Index
- Journal :
- Journal of the Neurological Sciences
- Publication Type :
- Academic Journal
- Accession number :
- 115412292
- Full Text :
- https://doi.org/10.1016/j.jns.2016.04.016