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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
- 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)
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.
- Nichols WC, Dwulet FE, Liepnieks J, et al. Variant apolipoprotein AI
as a major constituent of a human hereditary amyloid. Biochem Biophys Res Commun.
- 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 11/2020