Complex segregation analysis of familial amyloidosis in Oriental shorthair cats

Struck, Ann-Kathrin; Klotz, Diane M.; Hülskötter, Kirsten; Wohlsein, P.; Schmitz, Jessica; Bräsen, Jan Hinrich; Distl, O.

doi:10.1016/j.tvjl.2020.105552

Cited by 4 publications

(10 citation statements)

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“…Por outro lado, várias causas podem originar as lesões que levam a um distúrbio renal, como as infecções por vírus da imunodeficiência felina, a presença de uma alimentação não controlada (FINCH; SYME; ELLIOTT, 2016), alta ingestão de fósforo, quadros isquêmicos, uma exposição a quadros de hipóxia episodicamente, o envelhecimento e as vacinações de rotina tem sido associados ao desenvolvimento de DRC. Sob essa mesma perspectiva, a persistência de uma doença renal aguda (BROWN et al, 2016), um quadro de amiloidose e a presença de uma doença renal policística também pode levar ao desenvolvimento dessa enfermidade (LYONS et al, 2004;STRUCK et al, 2020).…”

Section: Etiologia E Fisiopatogeniaunclassified

Terapia celular com células tronco mesenquimais em gatos com doença renal crônica

Melo¹,

Júnior²

2021

PIC

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A doença renal crônica (DRC) é uma enfermidade que ocorre com bastante frequência na clínica de pequenos animais e possui uma prevalência maior em gatos. Além disso ela é caracterizada por ser uma lesão progressiva das unidades funcionais dos rins. Esse trabalho tem como objetivo avaliar a eficácia da terapia com células-tronco mesenquimais halógenas derivadas do tecido adiposo em pacientes que são acometidos por esse distúrbio. Dois felinos domésticos diagnosticados com a DRC, apresentando sintomas como a perda de peso, vômito e diminuição do apetite foram encaminhados para realizarem o tratamento com células tronco mesenquimais (CTMs). Os animais realizaram os exames de ultrassom e o bioquímico sérico, os quais confirmaram a presença dessa enfermidade por meio da análise de alterações presentes na morfologia dos rins e pelo aumento nos parâmetros de concentração sérica da creatinina. As CTMs foram descongeladas e preparadas no laboratório Biocell e foram realizadas três aplicações de CTMs nesses pacientes, com o intervalo de vinte e um dias entre cada uma delas. Os procedimentos, foram realizados através da soroterapia por meio da via intravenosa. Durante esse estudo clínico, não foi observada a presença de nenhum efeito adverso e colateral devido a essa administração de CTMs. As células tronco mesenquimais halógenas derivadas do tecido adiposo promoveram uma diminuição na concentração de creatinina sérica desses pacientes, os quais voltaram a se alimentar bem e passaram a ter uma melhor qualidade de vida. Com isso, essa terapia demonstra-se muito promissora e pode se tornar uma boa opção terapêutica para o tratamento dessa enfermidade.

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Section: Etiologia E Fisiopatogeniaunclassified

Terapia celular com células tronco mesenquimais em gatos com doença renal crônica

Melo¹,

Júnior²

2021

PIC

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“…2,3,7 In cats, AA amyloidosis is reported as familial in Abyssinian and Siamese breeds. [8][9][10][11] In domestic shorthair (DSH) cats, the disease is rare but has been reported in association with liver rupture, pulmonary hemorrhage, and feline immunodeficiency virus. [12][13][14][15] Recently, an extremely high prevalence of AA amyloidosis, ranging from 52% to 73%, was reported in domestic shorthair cats from 3 Italian shelters and its fibril structure was fully characterized.…”

Section: Introductionmentioning

confidence: 99%

“…In cats, AA amyloidosis is reported as familial in Abyssinian and Siamese breeds 8‐11 . In domestic shorthair (DSH) cats, the disease is rare but has been reported in association with liver rupture, pulmonary hemorrhage, and feline immunodeficiency virus 12‐15 .…”

Section: Introductionmentioning

confidence: 99%

Renal amyloid‐A amyloidosis in cats: Characterization of proteinuria and biomarker discovery, and associations with kidney histology

Palizzotto,

Ferri,

Callegari

et al. 2023

Veterinary Internal Medicne

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BackgroundAmyloid A (AA) amyloidosis is a protein misfolding disease arising from serum amyloid A (SAA). Systemic AA amyloidosis recently was shown to have a high prevalence in shelter cats in Italy and was associated with azotemia and proteinuria.ObjectivesInvestigate urine protein profiles and diagnostic biomarkers in cats with renal AA amyloidosis.AnimalsTwenty‐nine shelter cats.MethodsCase‐control study. Cats with renal proteinuria that died or were euthanized between 2018 and 2021 with available necropsy kidney, liver and spleen samples, and with surplus urine collected within 30 days before death, were included. Histology was used to characterize renal damage and amyloid amount and distribution; immunohistochemistry was used to confirm AA amyloidosis. Urine protein‐to‐creatinine (UPC) and urine amyloid A‐to‐creatinine (UAAC) ratios were calculated, and sodium dodecyl sulfate‐agarose gel electrophoresis (SDS‐AGE) and liquid chromatography‐mass spectrometry (LC‐MS) of proteins were performed.ResultsTwenty‐nine cats were included. Nineteen had AA amyloidosis with renal involvement. Cats with AA amyloidosis had a higher UPC (median, 3.9; range, 0.6‐12.7 vs 1.5; 0.6‐3.1; P = .03) and UAAC ratios (median, 7.18 × 10−3; range, 23 × 10−3‐21.29 × 10−3 vs 1.26 × 10−3; 0.21 × 10−3‐6.33 × 10−3; P = .04) than unaffected cats. The SDS‐AGE identified mixed‐type proteinuria in 89.4% of cats with AA amyloidosis and in 55.6% without AA amyloidosis (P = .57). The LC‐MS identified 63 potential biomarkers associated with AA amyloidosis (P < .05). Among these, urine apolipoprotein C‐III was higher in cats with AA amyloidosis (median, 1.38 × 107; range, 1.85 × 105‐5.29 × 107 vs 1.76 × 106; 0.0 × 100‐1.38 × 107; P = .01). In the kidney, AA‐amyloidosis was associated with glomerulosclerosis (P = .02) and interstitial fibrosis (P = .05).Conclusions and Clinical ImportanceRenal AA amyloidosis is associated with kidney lesions, increased proteinuria and increased urine excretion of SAA in shelter cats. Additional studies are needed to characterize the role of lipid transport proteins in the urine of affected cats.

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“…In Abyssinian/Somali cats, the continuous failure of the kidneys until the age of five years due to a high degree of medullar and glomerular amyloid deposits is the main cause of death of affected cats [5,9,10]. In Siamese/Oriental cats, the organs mostly affected by the deposition of amyloid are the liver and the thyroid gland, but variable other organs and tissues can be affected as well [11]. The main cause of death of affected cats is rupture of the liver with subsequent blood loss in the abdominal cavity and hypovolemic shock [6][7][8]12].…”

Section: Introductionmentioning

confidence: 99%

“…The disease is lethal with a variable age at death between one and seven years [6]. Hereditary AA-amyloidosis in Oriental cats is autosomal, and neither the onset nor progression of the disease is influenced by the sex [11]. A segregation analysis of 17 clinically affected cats revealed a complex mode of inheritance, composed of a polygenic component with a major locus with Mendelian inheritance and heritability estimates based on the pedigree data of 0.56 ± 0.09 [11].…”

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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Complex segregation analysis of familial amyloidosis in Oriental shorthair cats

Cited by 4 publications

References 9 publications

Terapia celular com células tronco mesenquimais em gatos com doença renal crônica

Terapia celular com células tronco mesenquimais em gatos com doença renal crônica

Renal amyloid‐A amyloidosis in cats: Characterization of proteinuria and biomarker discovery, and associations with kidney histology

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

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