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Study of the aggrecan proteoglycan and cytokine pattern associated with dwarfism in Mini-Horse breed in Brazil

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Author(s):
Roberta Martins Basso
Total Authors: 1
Document type: Master's Dissertation
Press: Botucatu. 2020-12-04.
Institution: Universidade Estadual Paulista (Unesp). Faculdade de Medicina Veterinária e Zootecnia. Botucatu
Defense date:
Advisor: José Paes de Oliveira Filho
Abstract

Dwarfism is a developmental disorder leading to an extreme abnormal growth that can be classified as proportional or disproportional, depending on its pathophysiology. In the Mini-Horse breed it is known that disproportional dwarfism is autosomal recessive and involves the aggrecan gene (ACAN) in the chromosome 1. Delayed physeal growth in limbs and ribs, disproportionately large and malformed skull and shortened limbs, trunk and neck as main clinical signs are observed. With the great impact of dwarfism in the Mini-Horse breed, the aim was to perform the histological study of the articular cartilage and epiphyseal plate of affected animals from this breed, detect and quantify the aggrecan glycoprotein in cartilages using the Western Blot technique and correlate with the gene expression of the main pro inflammatory cytokines (IL-1β, IL-6 and TNF-α). Eighteen dwarf Mini-Horse (DG) and five Mini-Horse without this phenotype (CG) were selected. Chondrodysplasia was observed only in dwarf horses (100%) when compared to the control group, in different degrees and the gene expression of the aggrecan proteoglycan was higher in the dwarf group (p = 0.0119). The indirect quantification by Western blotting of the aggrecan showed a tendency for higher values of the dwarf horses when compared to the CG. Regarding cytokines, no significant differences were detected between groups. It is concluded that aggrecan is expressed in MiniHorse dwarf equines, however, this defective molecule seems to be closely related to the development of the disease in this breed, due to the histopathological findings in the articular cartilage and epiphyseal plaque and the phenotypic findings observed (AU)

FAPESP's process: 18/11365-3 - Study of the aggrecan protein and cytokine pattern associated with dwarfism in Mini-horse breed in Brazil
Grantee:Roberta Martins Basso
Support Opportunities: Scholarships in Brazil - Master