EXTENSIVE INTIMAL APOLIPOPROTEIN A1-DERIVED AMYLOID DEPOSITS IN A PATIENT WITH AN APOLIPOPROTEIN A1 MUTATION

In the aortic intima amyloid deposits are often associated with athero sclerotic plaques. In a recent study of one patient with aortic intima l amyloid the major fibril protein was an N-terminal fragment of apoli poprotein A1 (apoA1) consisting of 69 amino acid residues. In the pres ent study, we have screened the apoA1 gene for mutations in autopsy ca ses with aortic intimal amyloid immunohistochemically positive for apo A1, using single stranded conformational polymorphism (SSCP) analysis and DNA sequencing. All cases except one had a normal apoA1 gene seque nce. One case of exceptionally severe atherosclerosis combined with ex tensive intimal amyloid deposits showed an apoA1 deletion correspondin g to Lys 107. Thus, wild type apoA1 is amyloidogenic but our findings suggest that the expression of a mutant apoA1-form may be associated w ith enhanced amyloidogenicity. (C) 1998 Academic Press.