Abstract 74: Analysis of Genome-Wide Blood DNA Methylation Profile in Moyamoya Disease

Background: Moyamoya disease (MMD) is a rare cerebrovascular disorder of unknown cause. Epigenetic regulations such as methylation play key role in gene expression and cerebrovascular diseases, however, methylation changes in MMD has not been previously reported. To understand the methylation profile of MMD, we performed a genome-wide DNA methylation analysis of whole blood from MMD patients. Method: Twenty-eight female adult patients and age-/sex- matched 10 healthy control volunteers (34.2 ± 1.3y) were included. All patients developed TIA or headache and were diagnosed as typical MMD (n=19 and 9), predominantly with Suzuki’s angiographical stage 3. DNA was extracted from frozen whole blood and processed with bisulfide conversion. Genome-wide DNA methylation profile was screened using Illumina 850K EPIC microarray. Blood DNA methylome and clinical characteristics were analyzed. Results: Self-declared race was predominantly Asian or Caucasian (n=14 and 13 in MMD, n=6 and 3 in control). Eleven patients sho...