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The mutant genes in another autosomal dominant forms of Alzheimer's disease were in:
- and chromosome 14.
This mutations lead to abnormal Presenilin 1 and Presenilin 2, which modified amyloid precursor protein so that increase amount of toxic form of Aß peptide.
Presenilins are kind of catalytic protease complexes that directly cleave the amyloid precursor protein.
A person who carrying Presenilin mutation shown an alteration different of variant of amyloid beta peptides in the cerebrospinal fluid.
Mutation of presenil 1 and presenil 2 modify processing of amyloid precursor protein the increasingly of particular toxic form of Aß peptide.
This mutation suspects a heritable form of Alzheimer's disease.
So, the signs of mutant genes that lead to early onset Alzheimer's disease is prominent amyloid deposit in the brain.
The abnormal process of amyloid precursor protein lead to what is called as: extracellular deposit.
The amyloid deposit is characteristic fibrils of amyloid beta peptide.
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