OMIA:000038-9685 : Amyloidosis, AA in Felis catus (domestic cat)

In other species: chicken , bats , white-tufted-ear marmoset , dog , red fox , Sumatran tiger , bottlenosed dolphin , pig , taurine cattle , goat , sheep , cheetah , northern tree shrew , Japanese squirrel , zebra finch , island gray fox

Categories: Homeostasis / metabolism phene

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: “Amyloid is the term for a misfolded protein that accumulates as insoluble fibrils in various organ and tissue sites to result in a clinical syndrome known as amyloidosis. The chemical diversity of amyloid and amyloidosis has been evident since the mid-1970s and the number of known human amyloid proteins has steadily increased from two at that time to 36 at Amyloid deposition, either hereditary or acquired, is seldom benign and, when clinical symptoms appear, they are frequently life-threatening. The best way to distinguish the different forms of amyloid is by chemical characterization. (Immuno-)histochemical typing of amyloid is readily available … . [A] second descriptor is whether the patient’s amyloid is limited (localized) or throughout the whole body (systemic). Each amyloid syndrome should be named according to the Nomenclature Guidelines of the ISA. Most of the distinct amyloidosis syndromes are named after the fibril forming protein, e.g. AL (amyloid derived from immunoglobulin light chain) amyloidosis (localized or systemic), AA amyloidosis (amyloid derived from SAA – serum amyloid A protein) … .” (International Society of Amyloidosis) Sipe et al., 2016: “The terms “hereditary amyloidosis” and “familial amyloidosis” refer to different entities. The term “hereditary amyloidosis” should be used when there is a mutation in the fibril protein gene itself, e.g. ATTR, ALys or AFib. The term “familial amyloidosis” should be used when the syndrome occurs in a familial setting due to mutations in genes expressing non-amyloid proteins, e.g. AA amyloidosis.”

Mapping: Esders et al. (2023) "genotyped 20 affected mixed Siamese/Oriental cats from a cattery and 48 healthy controls from the same breeds using the Illumina Infinium Feline 63 K iSelect DNA array. The multi-locus GWAS revealed eight significantly associated single nucleotide polymorphisms (SNPs) on FCA A1, D1, D2 and D3. The genomic regions harboring these SNPs contain 55 genes, of which 3 are associated with amyloidosis in humans or mice".

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breeds: Abyssinian (Cat) (VBO_0100000), Siamese (Cat) (VBO_0100221).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000038-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2023 Esders, S.L., Hülskötter, K., Schreiner, T., Wohlsein, P., Schmitz, J., Bräsen, J.H., Distl, O. :
Single Nucleotide Polymorphisms Associated with AA-Amyloidosis in Siamese and Oriental Shorthair Cats. Genes (Basel) 14:2126, 2023. Pubmed reference: 38136948. DOI: 10.3390/genes14122126.
Ferri, F., Ferro, S., Porporato, F., Callegari, C., Guglielmetti, C., Mazza, M., Ferrero, M., Crinò, C., Gallo, E., Drigo, M., Coppola, L.M., Gerardi, G., Schulte, T.P., Ricagno, S., Vogel, M., Storni, F., Bachmann, M.F., Vogt, A.C., Caminito, S., Mazzini, G., Lavatelli, F., Palladini, G., Merlini, G., Zini, E. :
AA-amyloidosis in cats (Felis catus) housed in shelters. PLoS One 18:e0281822, 2023. Pubmed reference: 36989207. DOI: 10.1371/journal.pone.0281822.
Moccia, V., Vogt, A.C., Ricagno, S., Callegari, C., Vogel, M., Zini, E., Ferro, S. :
Histological evaluation of the distribution of systemic AA-amyloidosis in nine domestic shorthair cats. PLoS One 18:e0293892, 2023. Pubmed reference: 37917747. DOI: 10.1371/journal.pone.0293892.
Palizzotto, C., Ferri, F., Callegari, C., Rossi, F., Manfredi, M., Carcangiu, L., Gerardi, G., Ferro, S., Cavicchioli, L., Müller, E., Weiss, M., Vogt, A.C., Lavatelli, F., Ricagno, S., Hurley, K., Zini, E. :
Renal amyloid-A amyloidosis in cats: Characterization of proteinuria and biomarker discovery, and associations with kidney histology. J Vet Intern Med , 2023. Pubmed reference: 37991136. DOI: 10.1111/jvim.16920.
2022 Schulte, T., Chaves-Sanjuan, A., Mazzini, G., Speranzini, V., Lavatelli, F., Ferri, F., Palizzotto, C., Mazza, M., Milani, P., Nuvolone, M., Vogt, A.C., Vogel, M., Palladini, G., Merlini, G., Bolognesi, M., Ferro, S., Zini, E., Ricagno, S. :
Cryo-EM structure of ex vivo fibrils associated with extreme AA amyloidosis prevalence in a cat shelter. Nat Commun 13:7041, 2022. Pubmed reference: 36396658. DOI: 10.1038/s41467-022-34743-2.
2021 Genova, F., Nonnis, S., Maffioli, E., Tedeschi, G., Strillacci, M.G., Carisetti, M., Sironi, G., Cupaioli, F.A., Di Nanni, N., Mezzelani, A., Mosca, E., Helps, C.R., Leegwater, P.A.J., Dorso, L. :
Multi-omic analyses in Abyssinian cats with primary renal amyloid deposits. Sci Rep 11:8339, 2021. Pubmed reference: 33863921. DOI: 10.1038/s41598-021-87168-0.
2016 Sipe, J.D., Benson, M.D., Buxbaum, J.N., Ikeda, S.I., Merlini, G., Saraiva, M.J., Westermark, P. :
Amyloid fibril proteins and amyloidosis: chemical identification and clinical classification International Society of Amyloidosis 2016 Nomenclature Guidelines. Amyloid 23:209-213, 2016. Pubmed reference: 27884064. DOI: 10.1080/13506129.2016.1257986.
2004 van Rossum, M., van Asten, F.J., Rofina, J., Lenstra, J.A., Benson, M.D., Gruys, E. :
Analysis of cDNA sequences of feline SAAs. Amyloid 11:38-43, 2004. Pubmed reference: 15185497. DOI: 10.1080/13506120410001676836.
1999 Niewold, T.A., Van, der, Linde-Sipman, J.S., Murphy, C., Tooten, P.C.J., Gruys, E. :
Familial amyloidosis in cats: Siamese and Abyssinian AA proteins differ in primary sequence and pattern of deposition Amyloid 6:205-209, 1999. Pubmed reference: 10524286.
1997 van der Linde-Sipman, JS., Niewold, TA., Tooten, PC., de Neijs-Backer, M., Gruys, E. :
Generalized AA-amyloidosis in Siamese and Oriental cats. Vet Immunol Immunopathol 56:1-10, 1997. Pubmed reference: 9220576.
1989 Johnson, K.H., Sletten, K., Werdin, R.E., Westermark, G.T., Obrien, T.D., Westermark, P. :
Amino Acid Sequence Variations in Protein-AA of Cats with High and Low Incidences of AA-Amyloidosis Comparative Biochemistry and Physiology B-Comparative Biochemistry 94:765-768, 1989.
Johnson, K.H., Sletten, K., Werdin, R.E., Westermark, G.T., O'Brien, T.D., Westermark, P. :
Amino acid sequence variations in protein AA of cats with high and low incidences of AA amyloidosis. Comp Biochem Physiol B 94:765-8, 1989. Pubmed reference: 2605915. DOI: 10.1016/0305-0491(89)90162-4.
Kluve-Beckerman, B., Dwulet, F.E., DiBartola, S.P., Benson, M.D. :
Primary structures of dog and cat amyloid A proteins: comparison to human AA. Comp Biochem Physiol B 94:175-83, 1989. Pubmed reference: 2598632. DOI: 10.1016/0305-0491(89)90030-8.
1984 Boyce, J.T., DiBartola, S.P., Chew, D.J., Gasper, P.W. :
Familial renal amyloidosis in Abyssinian cats. Vet Pathol 21:33-8, 1984. Pubmed reference: 6710810. DOI: 10.1177/030098588402100106.
1982 Chew, D.J., DiBartola, S.P., Boyce, J.T., Gasper, P.W. :
Renal amyloidosis in related Abyssinian cats. J Am Vet Med Assoc 181:139-42, 1982. Pubmed reference: 7118693.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Imke Tammen2 on 23 Apr 2021
  • Changed by Imke Tammen2 on 23 Nov 2022
  • Changed by Frank Nicholas on 26 Dec 2023