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Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.
Esta enfermedad se destaca por presentar una herencia autosomica recesiva, debido a mutaciones del gen ATP7B en ambos alelos, hasta la fecha se han reportado 400 mutaciones en diferentes poblaciones (3,4).
Keywords: Wilson's; Hepatolenticular degeneration; Copper; Cerebellar; Hepatic; Kayser fleisher rings; ATP7B; Ceruloplasmin
WD is an autosomal recessive disorder of copper metabolism due to the dysfunction of a copper-transporting ATP7B, leading to pathological copper accumulation [26].
Both patients had full gene sequencing for both the ABCB4 gene and the ATP7B gene (WD gene) (13).
It is caused by mutations to the gene coding for ATPase copper transporting beta poly-peptide (ATP7B), which is located on chromosome 13 and is characterized by a deficiency of ceruloplasmin, the serum transport protein for copper1.
The disorder of metabolism in patients with WD develops as a result of mutations in the adenosine triphosphatase 7B gene (ATP7B) located on the long arm of the 13th chromosome (1).
ATP7B, an intracellular transporter of copper, is well known to be defective in Wilson disease.
Copper resistant human hepatoblastoma mutant cell lines without metallothionein induction overexpress ATP7B. Hepatology 1998; 28: 1347-1356, doi: 10.1002/hep.510280525.
(1) The molecular pathogenesis is mutation in the P-type ATPase ATP7B gene, which is highly expressed in the liver, kidney, and placenta.