Hereditary Equine Regional Dermal Asthenia clinical and molecular study

• Grant number: 10/08774-7
• Support Opportunities: Scholarships in Brazil - Doctorate
• Effective date (Start): September 01, 2010
• Effective date (End): August 31, 2013
• Field of knowledge: Agronomical Sciences - Veterinary Medicine - Animal Clinics and Surgery
• Principal Investigator: Alexandre Secorun Borges
• Grantee: Peres Ramos Badial
• Host Institution: Faculdade de Medicina Veterinária e Zootecnia (FMVZ). Universidade Estadual Paulista (UNESP). Campus de Botucatu. Botucatu , SP, Brazil

Abstract

Cutaneous asthenia is a group of inherited, congenital dysplasias of the connective tissue, characterized by hyperextensible, abnormally fragile skin, which easily lacerates after minor trauma. Cutaneous asthenia has been already described in cattle, dogs, cats, horses, sheep and pigs. Also known as HERDA ("Hereditary Equine Regional Dermal Asthenia"), this disease has been diagnosed in cutting American Quarter Horse in the Unites States of America (USA) and Brazil. HERDA is an autosomal recessive disease caused by mutation in the gene encoding the protein peptidil prolyl isomerase B, which has a deleterious effect on the collagen metabolism. This mutation is present in important American Quarter stallions used in the USA. Although the genetic basis of American Quarter Horses in the USA and Brazil is very similar, the distribution of this mutant gene in our country remains unknown. As homozygous animals develop a disease with severe recurrent skin lesions, mating orientation of heterozygous individuals is the main preventive measure. In the USA, only two centers identify the above mentioned mutation using molecular tests. Development of a test in Brazil will reduce the spread of this serious disease, thereby avoiding financial loss and psychological stress among owners and veterinarians as well as patients suffering The aims of this study are: to characterize clinically and morphologically animals with HERDA; to confirm if the mutation described in the USA is the same mutation in Brazil; to optimize a test for molecular diagnosis of HERDA in Brazil; and to determine the occurrence of heterozygous individuals in a population of horses in Brazil. (AU)

Scientific publications

(4)

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

BADIAL, PERES R.; OLIVEIRA-FILHO, JOSE P.; WINAND, NENA J.; BORGES, ALEXANDRE S.. Allele frequency of hereditary equine regional dermal asthenia in American Quarter horses in Brazil determined by quantitative real-time PCR with high resolution melting analysis. VETERINARY JOURNAL, v. 199, n. 2, p. 306-307, FEB 2014. (10/08774-7, 09/17764-8)

BADIAL, PERES R.; OLIVEIRA-FILHO, JOSE P.; PANTOJA, JOSE CARLOS F.; MOREIRA, JOSE C. L.; CONCEICAO, LISSANDRO G.; BORGES, ALEXANDRE S.. Dermatological and morphological findings in quarter horses with hereditary equine regional dermal asthenia. VETERINARY DERMATOLOGY, v. 25, n. 6, p. 547-U89, DEC 2014. (10/08774-7, 09/17764-8)

BADIAL, PERES R.; CISNEROS-ALVAREZ, LUIS EMILIANO; BRANDAO, CLAUDIA VALERIA S.; RANZANI, JOSE JOAQUIM T.; TOMAZ, MAYANA A. R. V.; MACHADO, VANIA M.; BORGES, ALEXANDRE S.. Ocular dimensions, corneal thickness, and corneal curvature in quarter horses with hereditary equine regional dermal asthenia. VETERINARY OPHTHALMOLOGY, v. 18, n. 5, p. 385-392, SEP 2015. (10/08774-7, 09/17764-8)

BADIAL, PERES R.; TALLMADGE, REBECCA L.; MILLER, STEVEN; STOKOL, TRACY; RICHARDS, KRISTY; BORGES, ALEXANDRE S.; FELIPPE, M. JULIA B.. Applied Protein and Molecular Techniques for Characterization of B Cell Neoplasms in Horses. Clinical and Vaccine Immunology, v. 22, n. 11, p. 1133-1145, NOV 2015. (10/08774-7)

Academic Publications

(References retrieved automatically from State of São Paulo Research Institutions)

BADIAL, Peres Ramos. Astenia dérmica regional hereditária equina: diagnóstico, ocorrência no Brasil e caracterização clinica. 2013. Doctoral Thesis - Universidade Estadual Paulista (Unesp). Faculdade de Medicina Veterinária e Zootecnia. Botucatu Botucatu.