Multi-omic analyses in Abyssinian cats with primary renal amyloid deposits

Abstract The amyloidoses constitute a group of diseases occurring in humans and animals that are characterized by abnormal deposits of aggregated proteins in organs, affecting their structure and function. In the Abyssinian cat breed, a familial form of renal amyloidosis has been described. In this...

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Autores principales:	Francesca Genova, Simona Nonnis, Elisa Maffioli, Gabriella Tedeschi, Maria Giuseppina Strillacci, Michela Carisetti, Giuseppe Sironi, Francesca Anna Cupaioli, Noemi Di Nanni, Alessandra Mezzelani, Ettore Mosca, Christopher R. Helps, Peter A. J. Leegwater, Laetitia Dorso, 99 Lives Consortium, Maria Longeri
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/7f545cc278954ca080efd477d079a003
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spelling	oai:doaj.org-article:7f545cc278954ca080efd477d079a0032021-12-02T15:51:16ZMulti-omic analyses in Abyssinian cats with primary renal amyloid deposits10.1038/s41598-021-87168-02045-2322https://doaj.org/article/7f545cc278954ca080efd477d079a0032021-04-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-87168-0https://doaj.org/toc/2045-2322Abstract The amyloidoses constitute a group of diseases occurring in humans and animals that are characterized by abnormal deposits of aggregated proteins in organs, affecting their structure and function. In the Abyssinian cat breed, a familial form of renal amyloidosis has been described. In this study, multi-omics analyses were applied and integrated to explore some aspects of the unknown pathogenetic processes in cats. Whole-genome sequences of two affected Abyssinians and 195 controls of other breeds (part of the 99 Lives initiative) were screened to prioritize potential disease-associated variants. Proteome and miRNAome from formalin-fixed paraffin-embedded kidney specimens of fully necropsied Abyssinian cats, three affected and three non-amyloidosis-affected were characterized. While the trigger of the disorder remains unclear, overall, (i) 35,960 genomic variants were detected; (ii) 215 and 56 proteins were identified as exclusive or overexpressed in the affected and control kidneys, respectively; (iii) 60 miRNAs were differentially expressed, 20 of which are newly described. With omics data integration, the general conclusions are: (i) the familial amyloid renal form in Abyssinians is not a simple monogenic trait; (ii) amyloid deposition is not triggered by mutated amyloidogenic proteins but is a mix of proteins codified by wild-type genes; (iii) the form is biochemically classifiable as AA amyloidosis.Francesca GenovaSimona NonnisElisa MaffioliGabriella TedeschiMaria Giuseppina StrillacciMichela CarisettiGiuseppe SironiFrancesca Anna CupaioliNoemi Di NanniAlessandra MezzelaniEttore MoscaChristopher R. HelpsPeter A. J. LeegwaterLaetitia Dorso99 Lives ConsortiumMaria LongeriNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Francesca Genova Simona Nonnis Elisa Maffioli Gabriella Tedeschi Maria Giuseppina Strillacci Michela Carisetti Giuseppe Sironi Francesca Anna Cupaioli Noemi Di Nanni Alessandra Mezzelani Ettore Mosca Christopher R. Helps Peter A. J. Leegwater Laetitia Dorso 99 Lives Consortium Maria Longeri Multi-omic analyses in Abyssinian cats with primary renal amyloid deposits
description	Abstract The amyloidoses constitute a group of diseases occurring in humans and animals that are characterized by abnormal deposits of aggregated proteins in organs, affecting their structure and function. In the Abyssinian cat breed, a familial form of renal amyloidosis has been described. In this study, multi-omics analyses were applied and integrated to explore some aspects of the unknown pathogenetic processes in cats. Whole-genome sequences of two affected Abyssinians and 195 controls of other breeds (part of the 99 Lives initiative) were screened to prioritize potential disease-associated variants. Proteome and miRNAome from formalin-fixed paraffin-embedded kidney specimens of fully necropsied Abyssinian cats, three affected and three non-amyloidosis-affected were characterized. While the trigger of the disorder remains unclear, overall, (i) 35,960 genomic variants were detected; (ii) 215 and 56 proteins were identified as exclusive or overexpressed in the affected and control kidneys, respectively; (iii) 60 miRNAs were differentially expressed, 20 of which are newly described. With omics data integration, the general conclusions are: (i) the familial amyloid renal form in Abyssinians is not a simple monogenic trait; (ii) amyloid deposition is not triggered by mutated amyloidogenic proteins but is a mix of proteins codified by wild-type genes; (iii) the form is biochemically classifiable as AA amyloidosis.
format	article
author	Francesca Genova Simona Nonnis Elisa Maffioli Gabriella Tedeschi Maria Giuseppina Strillacci Michela Carisetti Giuseppe Sironi Francesca Anna Cupaioli Noemi Di Nanni Alessandra Mezzelani Ettore Mosca Christopher R. Helps Peter A. J. Leegwater Laetitia Dorso 99 Lives Consortium Maria Longeri
author_facet	Francesca Genova Simona Nonnis Elisa Maffioli Gabriella Tedeschi Maria Giuseppina Strillacci Michela Carisetti Giuseppe Sironi Francesca Anna Cupaioli Noemi Di Nanni Alessandra Mezzelani Ettore Mosca Christopher R. Helps Peter A. J. Leegwater Laetitia Dorso 99 Lives Consortium Maria Longeri
author_sort	Francesca Genova
title	Multi-omic analyses in Abyssinian cats with primary renal amyloid deposits
title_short	Multi-omic analyses in Abyssinian cats with primary renal amyloid deposits
title_full	Multi-omic analyses in Abyssinian cats with primary renal amyloid deposits
title_fullStr	Multi-omic analyses in Abyssinian cats with primary renal amyloid deposits
title_full_unstemmed	Multi-omic analyses in Abyssinian cats with primary renal amyloid deposits
title_sort	multi-omic analyses in abyssinian cats with primary renal amyloid deposits
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/7f545cc278954ca080efd477d079a003
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Multi-omic analyses in Abyssinian cats with primary renal amyloid deposits

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