Evaluacion por Oftalmologia: Reporta anillos de Kayser-Fleischer Actividad de ceruloplasmina en plasma: 0 U/min/L (cero) (VN: 25-65 U/min/L) Concentracion de cobre en orina de 24h (medida por absorcion atomica): (VN: < 60 pg)--Antes de iniciar tratamiento con dihidrocloruro de trietilentetramina (1200 mg/d): 74 [micron]g--Al mes de tratamiento con dihidrocloruro de trietilentetramina (TRIEN): 671 pg Genotipo de ATP7B
: R1319X/R1319X (homocigota para la mutacion Arg1319Stop).
Mutational analysis for testing of ATP7B
couldn't be done owing to financial constraints.
Liu et al., "Mutational characterization of ATP7B
gene in 103 Wilson's disease patients from Southern China: identification of three novel mutations," Neuroreport, vol.
Another possible reason for the increased melanogenesis could be the increase in Atp7b
and Atox1 genes expression, with a 2.0-fold and 4.8-fold increase, respectively (Table 1).
More than 500 mutations of the ATP7B
gene have been reported (2, 4, 17).
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.
The gene implicated in copper metabolism is ATP7B
gene which is located on chromosome 13 (Chappuis, P., 2005).
The causal gene is ATP7B
(ATPase, [Cu.sup.++] transporting, [beta] polypeptide), comprising 21 exons and encoding a copper-transporting protein dependent on the energy stored in ATP (26).
Iron uptake takes place by both transferrin-dependent and independent mechanisms of brain, while copper is delivered to the brain by copper transporters, ATP7A, and ATP7B
. Membrane transporters are often quite substrate specific.
Wilson's disease is a rare autosomal recessive genetic disorder of copper metabolism characterized by numerous mutations in the ATP7B
gene on chromosome 13.
Polymorphisms in canine ATP7B
: candidate modifier of copper toxicosis in the Bedlington terrier, Vet.