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What is Which type of Amyloidosis is caused by the mutation of a transthyretin protein? and explain in detail?
Familial amyloidotic polyneuropathy is associated with a mutation in plasma transthyretin. Transthyretin is a 127 aminoacid residue single chain polypeptide that is made in the liver. It binds & transpos thyroxine & retinol. FAP is an autosomal dominant disease characterized by a distal to proximal symmetric polyneuropathy. In addition to severe autonomic neuropathy sensory and motor nerves are also affected. Clinical features: Symptoms of the disease begins in the fouh and fifth decade, and is characterized by autonomic dysfunction, polyneuropathy, occasional cardiomyopathy and renal failure until death. Ref: Principles of Surgical Practice By A. N. Kingsnoh, Page 286