Wilsons disease Heptolenticular Degeneration By Toni Ajoje-12301016001
Wilson’s Disease Heptolenticular Degeneration By Toni Ajoje - 12301016001
Wilsons disease Rare autosomal recessive disease Mutation of Wilson disease protein gene(atP7B) Excessive Copper accumulation in the liver or brain Leads to hepatitis Psychiatric or neurological symptoms Affects 1-4 out 100,000 people Fatal disease if not diagnosed early Disease usually manifest between ages 4 and late teens
Wilson’s Disease • Rare Autosomal recessive disease • Mutation of Wilson disease protein gene (ATP7B) • Excessive Copper accumulation in the liver or brain • Leads to Hepatitis, Psychiatric or Neurological symptoms • Affects 1-4 out 100,000 people • Fatal disease if not diagnosed early • Disease usually manifest between ages 4 and late teens
Discovery First described in 1912 by a british neurologist Samuel Alexander Kinnier Wilson(1878-1937)
Discovery • First described in 1912 by a British neurologist Samuel Alexander Kinnier Wilson (1878-1937)
Copper in the body Copper is as essential as any other vitamins and is present in most food Required by the body for different functions Most people have more cooper than they need, healthy people are able to excrete copper At birth people with Wilson's disease begin to accumulate copper and are unable to excrete it
Copper in the body • Copper is as essential as any other vitamins and is present in most food • Required by the body for different functions • Most people have more cooper than they need, healthy people are able to excrete copper • At birth people with Wilson’s disease begin to accumulate copper and are unable to excrete it
Copper in the body Copper is utilized as a cofactor for different enzymes such as Cerloplasmin and cytochrome C Copper membrane transporter 1(CMT1 carries copper into the cells Binds to a protein known as atoX1 in golgi apparatus
Copper in the body • Copper is utilized as a cofactor for different enzymes such as Cerloplasmin and cytochrome C • Copper membrane transporter 1(CMT1) carries copper into the cells. • Binds to a protein known as ATOX1 in golgi apparatus