Friedreich's Ataxia Analysis

Friedreich’s Ataxia (FRDA) is a progressive, degenerative multisystem disease. This is the most common autosomally inherited ataxia with an early age of onset and heterogeneous clinical phenotypes. FRDA patients predominantly show gradual deterioration of nervous system followed by cardiomyopathy and diabetes (Parkinson et al. 2013). The prevalence estimates vary greatly between 1 in 20 000 to 1 in 330 000 depending on the geographic region (Vankan 2013). The majority of the patients (98%) have GAA trinucleotide repeat expansion within the first intron of the FXN gene in both the alleles, whereas the remaining (2%) patients have a point mutation in one allele and long GAA repeats in another allele (Campuzano et al. 1996). Hyper expanded GAA repeats (66 – 1800 triplets) hypothesized to interfere with the gene transcription through either non-B DNA structure or chromatin formation …show more content…
2011). CCFNA are extracellular nucleic acids released from the tissues through various cellular processes, which can be detectable in human bodily fluids such as plasma, serum, cerebrospinal fluid, urine and saliva. Plasma is an ideal source for the identification of CCFNA biomarkers for the diseases which are associated with alterations in nucleic acid content and reported to have stable fragments of nDNA (nuclear DNA), mtDNA and different RNA species (Suzuki et al. 2008). Differential quantities of nDNA and mtDNA in the plasma found to be variable under diverse physiological and disease conditions (Swarup and Rajeswari 2007; Yu 2012). In our previous study, we observed elevated levels of total plasma DNA in FRDA patients along with other ataxias but could not find any specific implication with the pathological parameters (Swarup et al.