Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1

Ladan Hamidi Asl, Juris J. Liepnieks, Kamran Hamidi Asl, Tomoyuki Uemichi, Georges Moulin, Emmanuel Desjoyaux, Robert Loire, Marc Delpech, Gilles Grateau, Merrill Benson

Research output: Contribution to journalArticle

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Abstract

Autosomal dominant hereditary amyloidosis with a unique cutaneous and cardiac presentation and death from heart failure by the sixth or seventh decade was found to be associated with a previously unreported point mutation (thymine to cytosine, nt 1389) in exon 4 of the apolipoprotein A1 (apoA1) gene. The predicted substitution of proline for leucine at amino acid position 90 was confirmed by structural analysis of amyloid protein isolated from cardiac deposits of amyloid. The subunit protein is composed exclusively of NH2-terminal fragments of the variant apoA1 with the longest ending at residue 94 in the wild-type sequence. Amyloid fibrils derived from four previously described apoA1 variants are composed of similar fragments with carboxyl-terminal heterogeneity, but contrary to those variants, which all carry one extra positive charge, the substitution Leu90Pro does not result in any charge modification. It is unlikely, therefore, that amyloid fibril formation is related to change of charge for a specific residue of the precursor protein. This is in agreement with studies on transthyretin amyloidosis in which no unifying factor such as change of charge for amino acid residues has been noted.

Original languageEnglish
Pages (from-to)221-227
Number of pages7
JournalAmerican Journal of Pathology
Volume154
Issue number1
StatePublished - Jan 1999

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Apolipoproteins
Apolipoprotein A-I
Cardiomyopathies
Amyloid
Familial Amyloidosis
Amyloidogenic Proteins
Amino Acids
Thymine
Protein Precursors
Cytosine
Amyloid Plaques
Protein Subunits
Point Mutation
Proline
Leucine
Exons
Heart Failure
Skin
Genes
Amyloidosis, Hereditary, Transthyretin-Related

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

Hamidi Asl, L., Liepnieks, J. J., Hamidi Asl, K., Uemichi, T., Moulin, G., Desjoyaux, E., ... Benson, M. (1999). Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1. American Journal of Pathology, 154(1), 221-227.

Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1. / Hamidi Asl, Ladan; Liepnieks, Juris J.; Hamidi Asl, Kamran; Uemichi, Tomoyuki; Moulin, Georges; Desjoyaux, Emmanuel; Loire, Robert; Delpech, Marc; Grateau, Gilles; Benson, Merrill.

In: American Journal of Pathology, Vol. 154, No. 1, 01.1999, p. 221-227.

Research output: Contribution to journalArticle

Hamidi Asl, L, Liepnieks, JJ, Hamidi Asl, K, Uemichi, T, Moulin, G, Desjoyaux, E, Loire, R, Delpech, M, Grateau, G & Benson, M 1999, 'Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1', American Journal of Pathology, vol. 154, no. 1, pp. 221-227.
Hamidi Asl L, Liepnieks JJ, Hamidi Asl K, Uemichi T, Moulin G, Desjoyaux E et al. Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1. American Journal of Pathology. 1999 Jan;154(1):221-227.
Hamidi Asl, Ladan ; Liepnieks, Juris J. ; Hamidi Asl, Kamran ; Uemichi, Tomoyuki ; Moulin, Georges ; Desjoyaux, Emmanuel ; Loire, Robert ; Delpech, Marc ; Grateau, Gilles ; Benson, Merrill. / Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1. In: American Journal of Pathology. 1999 ; Vol. 154, No. 1. pp. 221-227.
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