Copper Storage Disease (Wilson’s Disease): Causes

Pathogenesis (disease development)

In Wilson disease, there is a functional impairment of the transport protein for copper ions (ATP 7B). This results in a disturbance of coeruloplasmin synthesis and thus a decrease in copper excretion. Compensatorily, copper is bound to metallothionein in the liver, which in turn leads to the demise of liver cells after a latency (delay time). Consequently, more copper enters “circulation,” which is then deposited in other organs.

The organs most commonly affected are the liver, heart, truncal ganglia, and cornea (cornea).

Etiology (causes)

Biographic causes

  • Genetic burden from parents, grandparents – autosomal recessive inheritance.
    • Genetic risk dependent on gene polymorphisms:
      • Genes/SNPs (single nucleotide polymorphism):
        • Gene: ATP7B (synonym: WND) on the long arm of chromosome 13 (gene locus 13q14.3).
        • SNP: multiple SNPs