Wilson’s disease is caused by mutations in a specific gene called ATP7B, which plays a crucial role in the body’s ability to manage copper. Normally, copper is an essential trace mineral that the body needs in small amounts for various functions like forming red blood cells and maintaining nerve cells. However, excess copper can be toxic if it accumulates. The ATP7B gene encodes a protein that helps transport copper within liver cells and facilitates its excretion into bile, which is how the body gets rid of extra copper.
When there are mutations or defects in the ATP7B gene, this transport system malfunctions. As a result, copper cannot be properly incorporated into certain proteins or expelled from liver cells efficiently. This leads to pathological accumulation of free copper inside liver tissues and eventually other organs such as the brain and kidneys. The buildup causes damage through oxidative stress—copper catalyzes reactions that produce harmful free radicals—and triggers inflammation and cell death.
Because Wilson’s disease follows an autosomal recessive inheritance pattern, both copies of the ATP7B gene (one inherited from each parent) must have mutations for symptoms to develop. People who inherit only one defective copy usually do not show signs but can pass it on to their children.
The excessive deposition of copper primarily affects the liver at first because it is where most copper metabolism occurs. Over time, this leads to progressive liver damage ranging from fatty changes (hepatic steatosis) due to disrupted lipid metabolism linked with excess copper, inflammation (hepatitis), fibrosis (scarring), cirrhosis (severe scarring), and even liver failure if untreated.
Besides hepatic symptoms, accumulated copper deposits also affect neurological function when they reach brain regions like the basal ganglia responsible for movement control. This causes movement disorders such as tremors or rigidity seen in Wilson’s disease patients.
In summary:
– **Cause:** Mutations in *ATP7B* gene impair normal cellular handling of dietary and bodily-circulated copper.
– **Effect:** Copper builds up mainly in liver initially; later spreads causing multi-organ toxicity.
– **Mechanism:** Defective protein disrupts incorporation/excretion pathways leading to toxic free-copper accumulation.
– **Inheritance:** Autosomal recessive pattern requiring two faulty copies for disease manifestation.
– **Pathology:** Copper-induced oxidative stress damages hepatocytes causing inflammation → fibrosis → cirrhosis; neurological damage arises from brain deposition later on.
This genetic defect explains why Wilson’s disease typically presents early in life—often during childhood or adolescence—as these toxic effects accumulate gradually but relentlessly without proper treatment aimed at removing excess stored copper or preventing its absorption from food sources.
