A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis

Sikora, Jakub; Kmochová, Tereza; Musalkova, Dita; Pohludka, Michal; Přikryl, Petr; Hartmannová, Hana; Hodaňová, Kateřina; Trešlová, Helena; Nosková, Lenka; Mrázová, Lenka; Stránecký, Viktor; Lunová, Mariia; Jirsa, M; Honsová, E; Dasari, Surendra; McPhail, Ellen D.; Leung, Nelson; Živná, Martina; Bleyer, Anthony J.; Rychlík, Ivan; Ryšavá, R; Kmoch, Stanislav

doi:10.1016/j.kint.2021.09.007

Cited by 13 publications

(6 citation statements)

References 27 publications

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“…Specifically, there was no injection drug use, chronic infection, rheumatologic disease, malignancy, or periodic fever syndrome. At ages ranging 67 to 80 years, these patients are above most reported ages of familial AA amyloid 30 , 31 , 32 , 33 , 34 ; however, clinical presentations and mechanisms of hereditary AA amyloidosis vary, and a genetic component cannot be excluded. Two patients had prosthetic heart valves, which had no evidence of infection or other clinically apparent complication.…”

Section: Discussionmentioning

confidence: 76%

AA amyloidosis With Ig-Dominant Staining and Diagnostically Unusual Features

Andeen,

DiFranza,

Kung

et al. 2024

Kidney International Reports

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Section: Discussionmentioning

confidence: 76%

AA amyloidosis With Ig-Dominant Staining and Diagnostically Unusual Features

Andeen,

DiFranza,

Kung

et al. 2024

Kidney International Reports

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“…This region also harbors Serum Amyloid A1 (SAA1), an important putative candidate gene for AA-amyloidosis. A mutation in the SAA1 promoter causes a hereditary form of AA-amyloidosis in humans; thus, SAA1 could be of high importance in AA-amyloidosis in cats [19]. Nevertheless, a potential involvement of SAA1 in hereditary AA-amyloidosis in cats has not been reported yet.…”

Section: Discussionmentioning

confidence: 99%

“…The objectives of the present study were to identify variants associated with hereditary AA-amyloidosis in mixed Siamese/Oriental cats based on Illumina Infinium Feline 63 K iSelect DNA array data of cases and controls with multi-locus GWAS models. Within the genomic regions of these variants, we searched for putative functional candidate genes that have previously been reported to be associated with hereditary forms of amyloidosis in humans and mice [15,[18][19][20].…”

Section: Introductionmentioning

confidence: 99%

Single Nucleotide Polymorphisms Associated with AA-Amyloidosis in Siamese and Oriental Shorthair Cats

Esders,

Hülskötter,

Schreiner

et al. 2023

Genes

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AA-amyloidosis in Siamese and Oriental shorthair cats is a lethal condition in which amyloid deposits accumulate systemically, especially in the liver and the thyroid gland. The age at death of affected cats varies between one and seven years. A previous study indicated a complex mode of inheritance involving a major locus. In the present study, we performed a multi-locus genome-wide association study (GWAS) using five methods (mrMLM, FASTmrMLM, FASTmrEMMA, pLARmEB and ISIS EM-BLASSO) to identify variants associated with AA-amyloidosis in Siamese/Oriental cats. We 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. One of these genes is SAA1, which encodes for a member of the Serum Amyloid A family, the precursor protein of Amyloid A, and a mutation in the promotor of this gene causes hereditary AA-amyloidosis in humans. These results provide novel knowledge regarding the complex genetic background of hereditary AA-amyloidosis in Siamese/Oriental cats and, therefore, contribute to future genomic studies of this disease in cats.

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“…Idiopathic forms represent a significant and increasing percentage (15-20%) of all diagnosed cases of AA amyloidosis. Recently, Sikora et al identified a family suffering from primary AA amyloidosis due to a chr11: 18287683 T>C mutation in the SAA1 promoter, with overexpression of amyloidogenic SAA1.1 protein leading to organ involvement, in the absence of inflammation ( 35 ).…”

Section: Types Of Renal Amyloidosesmentioning

confidence: 99%

Renal amyloidosis: a new time for a complete diagnosis

Feitosa

Neves

Jorge

et al. 2022

Braz J Med Biol Res

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Amyloidoses are a group of disorders in which soluble proteins aggregate and deposit extracellularly in tissues as insoluble fibrils, causing organ dysfunction. Clinical management depends on the subtype of the protein deposited and the affected organs. Systemic amyloidosis may stem from anomalous proteins, such as immunoglobulin light chains or serum amyloid proteins in chronic inflammation or may arise from hereditary disorders. Hereditary amyloidosis consists of a group of rare conditions that do not respond to chemotherapy, hence the identification of the amyloid subtype is essential for diagnosis, prognosis, and treatment. The kidney is the organ most frequently involved in systemic amyloidosis. Renal amyloidosis is characterized by acellular pathologic Congo red-positive deposition of amyloid fibrils in glomeruli, vessels, and/or interstitium. This disease manifests with heavy proteinuria, nephrotic syndrome, and progression to end-stage kidney failure. In some situations, it is not possible to identify the amyloid subtype using immunodetection methods, so the diagnosis remains indeterminate. In cases where hereditary amyloidosis is suspected or cannot be excluded, genetic testing should be considered. Of note, laser microdissection/mass spectrometry is currently the gold standard for accurate diagnosis of amyloidosis, especially in inconclusive cases. This article reviews the clinical manifestations and the current diagnostic landscape of renal amyloidosis.

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A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis

Cited by 13 publications

References 27 publications

AA amyloidosis With Ig-Dominant Staining and Diagnostically Unusual Features

AA amyloidosis With Ig-Dominant Staining and Diagnostically Unusual Features

Single Nucleotide Polymorphisms Associated with AA-Amyloidosis in Siamese and Oriental Shorthair Cats

Renal amyloidosis: a new time for a complete diagnosis

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