Serum uric acid in Friedreich Ataxia

Tommaso Schirinzi, Gessica Vasco, Ginevra Zanni, Sara Petrillo, Fiorella Piemonte, Enrico Castelli, Enrico Silvio Bertini, Clinical Biochemistry, Available online 2 February 2018, ISSN 0009-9120, doi:10.1016/j.clinbiochem.2018.01.022.

Serum UA levels resulted significantly higher in FRDA than CTL, independently from age, gender and BMI. At the cut-off value of 4.45 mg/dl, serum UA discriminates FRDA from CTL with >70% of sensitivity and >60% of specificity. No correlations emerged with clinical data. Contrarily to other neurodegenerative diseases, in FRDA, we observed an independent increase of serum UA content. Taking in account previous experimental findings, we speculate that such a finding may result from biochemical impairment induced by the genetic defect, acting as a sort of compensatory antioxidant defense although proper dedicated studies are mandatory. This preliminary report focuses UA as a potential biomarker for FRDA and encourages further studies on novel therapeutic strategies.

Differential gene expression analysis reveals pathway based functional association of dysregulated genes in Friedreich’s ataxia

H.N. Singh, V. Swarup, A.K. Srivastava, Parkinsonism & Related Disorders, Volume 46, Supplement 2, January 2018, Page e34, ISSN 1353-8020,  doi:10.1016/j.parkreldis.2017.11.112.

A total of 3594 different gene-sets were identified and analyzed in the expression analysis. Out of 3594 gene-sets, 2009 were up-regulated in
the control phenotype and 1585 genes were up-regulated in FRDA conditions.

Sequence-specific DNA Binding Pyrrole–Imidazole Polyamides and Their Applications

Yusuke Kawamoto, Toshikazu Bando, Hiroshi Sugiyama, Bioorganic & Medicinal Chemistry, Available online 1 February 2018, ISSN 0968-0896, doi:10.1016/j.bmc.2018.01.026.

Pyrrole–imidazole polyamides (Py–Im polyamides) are cell-permeable compounds that bind to the minor groove of double-stranded DNA in a sequence-specific manner without causing denaturation of the DNA. These compounds can be used to control gene expression and to stain specific sequences in cells. Here, we review the history, structural variations, and functional investigations of Py–Im polyamides.

Prevalence of hemochromatosis (HFE) gene mutations in Friedreich’s Ataxia patients and peripheral neuropathy

I. Singh, S. Shakya, R.K. Singh, V. Goyal, A.K. Srivastava, Parkinsonism & Related Disorders, Volume 46, Supplement 2, January 2018, Page e4, ISSN 1353-8020, doi:10.1016/j.parkreldis.2017.11.014.

Allele frequency of p.H63D mutation was statistically higher (p-value 0.04) in cases than controls. Peripheral neuropathy in our patients
correlated with p.H63D (p-value 0.038)