La EW es un trastorno metabolico del transporte celular del Cu, autosomico recesivo, causado por mutaciones en el gen
ATP7B en el cromosoma 13 (13q14.3), el cual codifica una ATPasa transportadora de Cu ligada a la membrana de los hepatocitos, la cual es requerida para la incorporacion del Cu en la apoceruloplasmina para ser transformada en ceruloplasmina, a su vez esta proteina es necesaria para liberar la ceruloplasmina a la circulacion y la excrecion del Cu a traves de la bilis (1,2,4).
Wilson's disease, an autosomal recessive disorder is characterized by a mutated
ATP7B enzyme [1-14].
Heneka, "Neuroinflammatory and behavioural changes in the
Atp7B mutant mouse model of Wilson's disease," Journal of Neurochemistry, vol.
In a study of four pregnancies where both parents were Wilson disease carriers, the team demonstrated that cSMART can diagnose Wilson disease if the sequences of the parents' mutant
ATP7B variants are known.
Genetic identification for the mutations of the
ATP7B gene involved in Wilson Disease is very expensive.
Familial pathogenic mutations were identified in
ATP7B by Sanger and whole-exome sequencing.
A growing body of data suggests that COMMD1 is associated with a multimeric E3 ubiquitin ligase complex and regulates the stability of proteins such as NF-[kappa]B subunits,
ATP7B, and HIF-1-[alpha] [7-11].
Loss of the Cu transporter
ATP7B in Wilson's disease model mice presents as elevated brain copper, neurodegeneration, and inflammation [128].
Wilson hastaliginda (hepatolentikuler dejenerasyon), karacigerde bakir tasiyici enzim (
ATP7B) defekti nedeniyle safra kesesinden bakir atiliminda azalma ve karaciger, bobrek, beyin ve korneada bakir birikimi ile giden otozomal resesif gecisli bir metabolik hastaliktir.
(12) Esta proteina no tiene expresion en el higado, donde la
ATP7B o proteina de Wilson se expresa mayoritariamente; esta proteina comparte un 67% (7) de aminoacidos con la proteina de Menkes.