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allied
academies
Journal of Neurology and Neurorehabilitation Research | Volume 3
August 23-24, 2018 | Paris, France
Neurology and Neurological Disorders
18
th
International Conference on
Effect of GAA expansion on Iron Copper metabolism and cell free nucleic acids (cfNA) levels in plasma
of Friedreich’s ataxia (FRDA) patients and its co relation with the FARS
Deepti Pathak
and
M.R. Rajeswari
All India Institute of Medical Sciences, India
F
riedreich’s ataxia is characterized by the high iron and copper
deposits in the brain and cardiac cells which triggers the
cellular and axonal death causing increased plasma levels of the
circulating nucleic acids in the patients. A quantitative studywas
done and the plasma levels of cell free Nucleic acids, and trace
elements iron and copper were assessed and correlated with
theGAA repeat numbers and frataxin levels in patients. 25 FRDA
patients and 25 controls from Northern India were included.
Iron and Copper level assessment were done by Nitro PAPS and
Dibrom PAESA method, respectively. Fluorescent dye-based
Qubit 3.0 Fluorometer was used for cfNAs quantifications. Iron
(Fe2+) and Copper (Cu2+) levels were found to be significantly
decreased in patients (Cu; mean ± SD(range) 8±5(2-16); Fe
mean ± SD(range) 5±3(15-13) compared to controls(Cu; mean
± SD(range) 13±8(12-29); Fe mean ± SD(range) 16±7(4-26)
whereas free cfDNA levels were found to be higher in patients
(mean ± SD(range) 73±35(2-16)) compared to controls (mean
± SD(range) 34±0.3(9-6)). There was a significant positive
correlation between GAA repeat numbers and cfDNA& frataxin
level and Fe and Cu levels. Significant inverse correlation was
established between GAA repeat numbers and Fe and Cu levels
& frataxin and cfNA.
e:
pathakdeepti@yahoo.in