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

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dc.citation.issue1
dc.citation.volume11
dc.contributor.authorGenova F
dc.contributor.authorNonnis S
dc.contributor.authorMaffioli E
dc.contributor.authorTedeschi G
dc.contributor.authorStrillacci MG
dc.contributor.authorCarisetti M
dc.contributor.authorSironi G
dc.contributor.authorCupaioli FA
dc.contributor.authorDi Nanni N
dc.contributor.authorMezzelani A
dc.contributor.authorMosca E
dc.contributor.authorHelps CR
dc.contributor.authorLeegwater PAJ
dc.contributor.authorDorso L
dc.contributor.author99 Lives Consortium
dc.contributor.authorLongeri M
dc.coverage.spatialEngland
dc.date.accessioned2024-01-28T20:23:16Z
dc.date.accessioned2024-07-25T06:50:50Z
dc.date.available2021-04-16
dc.date.available2024-01-28T20:23:16Z
dc.date.available2024-07-25T06:50:50Z
dc.date.issued2021-04-16
dc.description.abstractThe 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.
dc.description.confidentialfalse
dc.format.pagination8339-
dc.identifier.author-urlhttps://www.ncbi.nlm.nih.gov/pubmed/33863921
dc.identifier.citationGenova F, Nonnis S, Maffioli E, Tedeschi G, Strillacci MG, Carisetti M, Sironi G, Cupaioli FA, Di Nanni N, Mezzelani A, Mosca E, Helps CR, Leegwater PAJ, Dorso L, 99 Lives Consortium , Longeri M. (2021). Multi-omic analyses in Abyssinian cats with primary renal amyloid deposits.. Sci Rep. 11. 1. (pp. 8339-).
dc.identifier.doi10.1038/s41598-021-87168-0
dc.identifier.eissn2045-2322
dc.identifier.elements-typejournal-article
dc.identifier.issn2045-2322
dc.identifier.numberARTN 8339
dc.identifier.pii10.1038/s41598-021-87168-0
dc.identifier.urihttps://mro.massey.ac.nz/handle/10179/71000
dc.languageeng
dc.publisherSpringer Nature Limited
dc.publisher.urihttps://www.nature.com/articles/s41598-021-87168-0
dc.relation.isPartOfSci Rep
dc.rightsThe author/sen
dc.rights.licenseCC BY 4.0en
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/en
dc.subjectAmyloidogenic Proteins
dc.subjectAmyloidosis, Familial
dc.subjectAnimals
dc.subjectCat Diseases
dc.subjectCats
dc.subjectGenetic Variation
dc.subjectKidney
dc.subjectKidney Diseases
dc.subjectMicroRNAs
dc.subjectProteomics
dc.subjectWhole Genome Sequencing
dc.titleMulti-omic analyses in Abyssinian cats with primary renal amyloid deposits
dc.typeJournal article
pubs.elements-id444899
pubs.organisational-groupOther
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