OMIA 000039-9796 : Amyloidosis, AL in Equus caballus

In other species: domestic cat

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, https://www.isaamyloidosis.org/about/amyloidosis-the-disease.php) 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.” This phene was originally named 'amyloidosis, lambda' and was renamed based on the International Society of Amyloidosis 2016 Nomenclature Guidelines (Sipe et al. 2016).

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.
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.
1996 Niewold, T.A., Murphy, C., Gruys, E., Weiss, D.T., Solomon, A. :
Equine light-chain-associated amyloidosis Amyloid-International Journal of Experimental & Clinical Investigation 3:183-186, 1996.
1989 Linke, R.P., Trautwein, G. :
Immunoglobulin Lambda-Light-Chain-Derived Amyloidosis (A- Lambda) in 2 Horses Blut 58:129-132, 1989. Pubmed reference: 2495038.

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  • Created by Frank Nicholas on 06 Sep 2005