What is apolipoprotein AI amyloidosis (apoAI)?

Updated: May 09, 2019
  • Author: Robert O Holmes, Jr, DO; Chief Editor: Herbert S Diamond, MD  more...
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Answer

Answer

Apolipoprotein AI amyloidosis (apoAI) is an autosomal dominant amyloidosis caused by point mutations in the apoAI gene. Usually, this amyloidosis is a prominent renal amyloid but can also form in many locations. ApoAI (likely of normal sequence) is the fibril precursor in localized amyloid plaques in the aortae of elderly people. ApoAI can present either as a nonhereditary form with wild-type protein deposits in atherosclerotic plaques or as a hereditary form due to germline mutations in the apoA1 gene. [61] Currently, more than 50 apoAI variants are known and 13 are associated with amyloidosis. [61] As more gene locations are found, the clinical phenotypes are slowly being elucidated.


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