Genome-wide DNA Methylation Profiles May Reveal New Possible Epigenetic Pathogenesis Of Sporadic Congenital Cataract

Aim:To investigate the possible epigenetic pathogenesis of sporadic congenital cataract.Materials & Methods:We conducted whole genome bisulfite sequencing on peripheral blood from sporadic binocular or monocular congenital cataract patients and cataract-free participants.Results:We found massive differentially methylated regions within the whole genomes between any two groups.Meanwhile,we identified five genes(ACTN4,ACTG1,TUBA1 A,TUBA1C,TUBB4B)for the binocular and control groups and TUBA1 A for the monocular and control groups as the core differentially methylated region-related genes.The proteins encoded by these core genes are involved in building cytoskeleton and intercellular junctions.Conclusion:Changes in the methylation levels of core genes may disturb the function ofcytoskeleton and intercellular junctions,eventually leading to sporadic congenital cataract.