| Description | Protein which, if defective, causes amyloidosis, a vast group of diseases defined by the accumulation of amyloid in tissues Amyloidoses are classified according to clinical signs, biochemical type of amyloid protein involved, and the extent of amyloid deposition (generalized or localized). Most amyloidoses are multisystemic diseases affecting several organs or systems. Mainly affected organs are the kidneys, heart, gastrointestinal tract, liver, skin, peripheral nerves and eyes, but any organ can be affected. The most frequent forms are primary amyloidosis, also known as light-chain immunoglobulin amyloidosis (AL), reactive or inflammatory amyloidosis, also known as acquired amyloidosis (AA), and transthyretin amyloidosis (ATTR). Localized amyloidosis affecting the brain is characteristic of Alzheimer's disease, trisomy 21, and prion diseases (transmissible spongiform encephalitis, Creutzfeldt-Jakob disease, Gerstmann- Straussler-Scheinker syndrome, fatal familial insomnia). In prion diseases the amyloid precursor is the prion protein |
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