engleski

Epigenomics of S-adenosylhomocysteine deficiency

S-adenosylhomocysteine (AHCY) hydrolase deficiency is a multisystem methylation disorder caused by point mutations in exons of ahcy gene. Although many advances have been made since the discovery of the disease in 2002, molecular mechanisms of disease pathology are still elusive. Using AHCY deficiency as model system may allow new insights in understanding related methylation disorders thereby deciphering players of the complex epigenomic network. To do so, we have engaged in omics approaches, from SILAC and mass spectromety (MS) to pyrosequencing and next generation sequencing (NGS) such as RNAseq. As shown recently, AHCY deficiency causes abnormal hypermethylation at imprinting control regions, showing for the first time adverse effects on the methylation status of patient DNA. Preliminary results of MS and NGS will be discussed to show our progress in understanding disease pathology and impact on the cellular methylome.

AHCY

nije evidentirano