Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2

We report a significant elevation in global 5-mC levels of about 2–7% on average for sALS (p #x3c; 0.01 [F(1, 243) = 9.159,p = 0.0027]) and various forms of fALS along with SCA1 (p #x3c; 0.01 [F(1, 83) = 11.285],p = 0.0012) and SCA2 (p #x3c; 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 withC9orf72 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.Neurodegener Dis 2018;18:38 –48
Source: Neurodegenerative Diseases - Category: Neurology Source Type: research

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