Spectrum and classification of ATP7B
variants in a large cohort of Chinese patients with Wilson's disease guides genetic diagnosis.
La degeneracion hepatolenticular o enfermedad de Wilson (EW) es una condicion clinica hereditaria que resulta de una mutacion del gen que codifica para la proteina ATP7B
(Wilson ATPasa) en el cromosoma 13q14; su herencia es autosomica recesiva y se caracteriza por acumulacion de cobre en diferentes organos por la incapacidad del cuerpo para excretarlo (1).
mediates vesicular sequestration of copper: Insight into biliary copper excretion.
Mutation R1319X in gene ATP7B
and neurological form in Wilson's disease.
The basic pathophysiology relates to improper handling of copper by the liver owing to the dysfunctional ATP7B
Both patients had full gene sequencing for both the ABCB4 gene and the ATP7B
gene (WD gene) (13).
Presence of KF ring on opthalmologic examination or detection of mutations in the ATP7B
gene support the diagnosis.
Role of external loops of human ceruloplasmin in copper loading by ATP7B
, an intracellular transporter of copper, is well known to be defective in Wilson disease.
1) The molecular pathogenesis is mutation in the P-type ATPase ATP7B
gene, which is highly expressed in the liver, kidney, and placenta.
It is due to mutations of the ATP7B
gene on chromosome 13, which codes for a membrane-bound copper transporting ATPase (2).
Wilson disease results from a mutated version of the gene ATP7B
that, when inherited from both parents, causes liver and neurological damage and eventually death.