ApoA-I variants with amino acid substitutions, especially in the region of amino acid residues 50-93 and 170-178, have been associated with amyloidosis.
We describe six patients with AApoAI amyloidosis due to APOA1 germline mutations that affect the larynx, small intestine, large intestine, heart, liver, kidney, uterus, ovary, or pelvic lymph nodes.
The aim of this study was to evaluate the extent of amyloid deposits in explanted livers from two patients with apolipoprotein A-Iamyloidosis, with the Arg26 mutation, to determine their suitability as domino donors.
These data suggest that deletion of apoA-I is associated with increased clearance of Aβ and reduced parenchymal and vascular Aβ pathology in the Tg2576 model.
Second, 0.27% of individuals in the general population were heterozygous for NS variants which were associated with substantial reductions in apoA-I (up to 39 mg/dL) and/or HDL cholesterol (up to 0.9 mmol/L) and, surprisingly, 0.41% were heterozygous for variants predisposing to amyloidosis.
A new genetic variant of hereditary apolipoprotein A-Iamyloidosis: a case-report followed by discussion of diagnostic challenges and therapeutic options.