表观遗传学
表型
疾病
遗传学
铜代谢
DNA甲基化
突变
生物
发病机制
基因型
后生
基因
医学
铜
免疫学
病理
基因表达
化学
有机化学
作者
Daniela Fanni,Clara Gerosa,Valeria Marina Nurchi,Rosita Cappai,Marta Mureddu,Peter Van Eyken,Luca Saba,Mirko Manchia,Gavino Faa
标识
DOI:10.2174/0929867327666200730214757
摘要
Wilson's disease is a congenital disorder of copper metabolism whose pathogenesis remains, at least in part, unknown. Subjects carrying the same genotype may show completely different phenotypes, differing for the age at illness onset or for the hepatic, neurologic or psychiatric clinical presentation. The inability to find a unequivocal correlation between the type of mutation in the ATPase copper transporting beta (ATP7B) gene and the phenotypic manifestation, has encouraged many authors to look for epigenetic factors interacting with the genetic changes. Here, the evidences regarding the ability of copper overload to change the global DNA methylation status are discussed.
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