This site is intended for healthcare professionals

Go to /sign-in page

You can view 5 more pages before signing in

Apo-AI (Apo-A1) Milano

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

  • point mutations in apolipoproteinA1, the principal protein component of HDL, are associated with a wide variety of clinical phenotypes including amyloidosis
  • cysteinearginine mutation at position 173 in the -helices of apoA-1 defines the Apo Milano genotype:
    • the Apo Milano genotype is associated with a reduction in HDL levels but paradoxically is protective against atherosclerosis in man and animal models
      • the decrease in apoA-I levels among individuals with these structural mutations is the result of rapid catabolism of apoA-I (1)
      • apoA-I Milano (2) results in an average 40% decrease in apoA-I and a 67% decrease in HDL-C (3)

Reference:

  1. Franceschini G, Sirtori CR, Capurso A, Weisgraber KH, Mahley RW. A-IMilano apoprotein: decreased high-density lipoprotein cholesterol levels with significant lipoprotein modifications and without clinical atherosclerosis in an Italian family. J Clin Invest. 1980;66:892-900.
  2. Nichols WC, Dwulet FE, Liepnieks J, et al. Variant apolipoprotein AI as a major constituent of a human hereditary amyloid. Biochem Biophys Res Commun. 1988;156:762-768.
  3. Soutar AK, Hawkins PN, Vigushin DM, et al. Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis. Proc Natl Acad Sci U S A. 1992;89:7389-7393.

Create an account to add page annotations

Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page

The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

Connect

Copyright 2024 Oxbridge Solutions Limited, a subsidiary of OmniaMed Communications Limited. All rights reserved. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions receives funding from advertising but maintains editorial independence.