New Horizons in Correction of Mutated ATP7B in Wilson Disease Using Pharmacological Agents: Precise Medicine

[摘要] Wilson disease is an autosomal recessive disorder of copper metabolism owing to mutations in the ATP7B which encodes a copper exporting P-type ATPase transporter [1]. Therefore mutation in ATP7B gene lead to accumulation of copper in those organs where there ATP7B gene expresses [2]. Patients may present with dominant hepatic abnormalities, neurological manifestations or a combination of both. Hepatic symptoms comprise liver cirrhosis, chronic liver inflammation and fulminant liver failure, whereas neurological manifestations include parkinsonian tremor disorders, seizures, personality change, depression and psychosis [3]. Worldwide frequency of Wilson disease is one in 30,000 individuals with a carrier frequency of 1/90 [4]. More recent data from population screening in the U.K using next generation sequencing revealed a considerable higher prevalence, perhaps as frequent as 1/7026 individuals [5].