Hypertrophic cardiomyopathy in Persian cats: mutational analysis of genes encoding sarcomeric proteins and correlation with cardiac symptoms

• Grant number: 12/04990-2
• Support Opportunities: Regular Research Grants
• Start date: June 01, 2012
• End date: May 31, 2014
• Field of knowledge: Agronomical Sciences - Veterinary Medicine - Animal Clinics and Surgery
• Principal Investigator: Maria Helena Matiko Akao Larsson
• Grantee: Maria Helena Matiko Akao Larsson
• Host Institution: Faculdade de Medicina Veterinária e Zootecnia (FMVZ). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• Associated researchers: Bruno Cogliati

Abstract

Hypertrophic cardiomyopathy (HCM) is the main feline cardiopathy and is characterized by left ventricular hypertrophy without dilatation. It is estimated that the prevalence in humans is 1 to 500 individuals and, in at least 60% of cases, the disease is familial origin. More than 450 mutations in 11 genes that encode sarcomere proteins related to HCM. In some families of cats, HCM is inherited and transmitted in an autosomal dominant morphology is very similar to human. Maine Coon, reduced miomesina and mutation in the gene encoding myosin binding protein C are changes found in cats with HCM. In Ragdoll, HCM is related to the same gene mutation, but in a different codon is highly conserved in the species. In other breeds such as Persian, British Shorthair, Norwegian Forest there is also evidence of genetically determined HCM, but there is no evidence of the type of inheritance. In this study, Persian cats will be evaluated by means of echocardiography, ECG, blood pressure and laboratory tests, and will be classified according to presence or absence of HCM. Blood samples will be submitted for DNA extraction and genotyping by the technique of polymerase chain reaction. It will take place on a large scale sequencing of key genes potentially involved in the pathogenesis of feline HCM (111 exons 8 genes related to the sarcomere described in HCM), with subsequent correlation of mutations with the presence of the disease. Recognizing the genetic basis of HCM is crucial for early diagnosis of disease and the search for new therapeutic strategies. Information on the prevalence of HCM has clinical relevance and genetic mapping becomes crucial for early diagnosis and for understanding the pathophysiology of the disease, justifying the importance of this work. (AU)

Scientific publications

(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)

ARINE PELLEGRINO; ALEXANDRE G.T. DANIEL; REBECCA PESSOA; JULIANA M. GUERRA; GABRIEL GARONE DE LUCCA; MARCELO D. GOISSIS; MARIANA F. FREITAS; BRUNO COGLIATI; MARIA HELENA M.A. LARSSON. Sensibilidade e especificidade do exame eletrocardiográfico na detecção de sobrecargas atriais e/ou ventriculares em gatos da raça Persa com cardiomiopatia hipertrófica. Pesquisa Veterinária Brasileira, v. 36, n. 3, p. 187-196, 2016-03-00. (12/04990-2)

JULIANA MARIOTTI GUERRA; ARINE PELLEGRINO; ALEXANDRE GONÇALVES TEIXEIRA DANIEL; MARIANA FERREIRA DE FREITAS; NATÁLIA CAVALCA CARDOSO; REBECCA BASTOS PESSOA; GABRIEL GARONE DE LUCCA; MARIA HELENA MATIKO AKAO LARSSON; LUIZ FERNANDO ONUCHIC; FELISBINA LUISA QUEIROGA; et al. Achados estruturais e funcionais cardíacos em gatos persas com doença renal policística autossômica dominante. Ciência Rural, v. 50, n. 9, 2020-08-07. (12/04990-2, 12/19614-6, 13/06471-5)