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2437 pages added, reviewed or updated during the last month (last updated: 23/4/2021)

2437 pages added, reviewed or updated during the last month (last updated: 23/4/2021)


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Apo-AI (Apo-A1) Milano

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  • 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.

Last reviewed 04/2021

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