%0 Generic
%A H., Hamzeiy
%A D., Savaş
%A C., Tunca
%A N.E., Şen
%A A., Gündoğdu Eken
%A I., Şahbaz
%A D., Calini
%A C., Tiloca
%A N., Ticozzi
%A A., Ratti
%A V., Silani
%A A.N., Başak
%D 2018
%T Supplementary Material for: Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2
%U https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Elevated_Global_DNA_Methylation_Is_Not_Exclusive_to_Amyotrophic_Lateral_Sclerosis_and_Is_Also_Observed_in_Spinocerebellar_Ataxia_Types_1_and_2/5873358
%R 10.6084/m9.figshare.5873358.v1
%2 https://karger.figshare.com/ndownloader/files/10442373
%2 https://karger.figshare.com/ndownloader/files/10442376
%2 https://karger.figshare.com/ndownloader/files/10442379
%K Amyotrophic lateral sclerosis
%K Trinucleotide repeat disorder
%K Spinocerebellar ataxia
%K ELISA
%K Global DNA methylation
%K 5-Methylcytosine
%X Adult-onset neurological disorders are caused and influenced by a multitude of different factors, including epigenetic modifications. Here, using an ELISA kit selected upon careful testing, we investigated global 5-methylcytosine (5-mC) levels in sporadic and familial amyotrophic lateral sclerosis (sALS and fALS), spinocerebellar ataxia types 1 and 2 (SCA1 and SCA2), Huntington’s disease, Friedreich’s ataxia, and myotonic dystrophy type 1. We report a significant elevation in global 5-mC levels of about 2–7% on average for sALS (p < 0.01 [F(1, 243) = 9.159, p = 0.0027]) and various forms of fALS along with SCA1 (p < 0.01 [F(1, 83) = 11.285], p = 0.0012) and SCA2 (p < 0.001 [F(1, 122) = 29.996, p = 0.0001]) when compared to age- and sex-matched healthy controls. C9orf72 expansion carrier ALS patients exhibit the highest global 5-mC levels along with C9orf72 promoter hypermethylation. We failed to measure global 5-hydroxymethylcytosine (5-hmC) levels in blood, probably due to the very low levels of 5-hmC and the limitations of the commercially available ELISA kits. Our results point towards a role for epigenetics modification in ALS, SCA1, and SCA2, and help conclude a dispute on the global 5-mC levels in sALS blood.
%I Karger Publishers