Title: 2015 ACVIM Forum Research Abstract Program Document date: 2015_5_27
ID: 3pnuj5ru_133
Snippet: Despite the SNP observed in the study, they do not fit the criteria of HCM causal mutation because they do not cause changes in amino acids and do not occurred exclusively in animals with HCM. Thus, a causal mutation of HCM in Persians cat has not been elucidated and mutations in these two exons of cardiac genes do not seem to be the cause of HCM in this breed. Additional screening of cardiac genes is necessary to identify the genetic and molecul.....
Document: Despite the SNP observed in the study, they do not fit the criteria of HCM causal mutation because they do not cause changes in amino acids and do not occurred exclusively in animals with HCM. Thus, a causal mutation of HCM in Persians cat has not been elucidated and mutations in these two exons of cardiac genes do not seem to be the cause of HCM in this breed. Additional screening of cardiac genes is necessary to identify the genetic and molecular cause of this feline disease in Persian cats. The autosomal dominant polycystic kidney disease (PKD) is characterized by the presence of multiple cysts in the renal parenchyma and occasionally in liver and pancreas, and it is caused by a punctual mutation at exon 29 of the PKD-1 gene. It is an important cause of chronic kidney disease and the most prevalent genetic disease in cats, affecting mainly Persians cats or correlated breeds. Cats with PKD presents clinical course very similar to PKD disease in humans. Cardiovascular complications are the main causes of morbidity and mortality in human patients with PKD. There are reports of an association between PKD and heart diseases such as hypertension and consequent ventricular hypertrophy, diastolic dysfunction, valve morphological changes, valve prolapse and development of aneurysms. Few studies have evaluated the incidence of hypertension in PKD cats. However, no studies have correlated the presence of ventricular hypertrophy, valve abnormalities or systolic and diastolic changes with feline PKD.
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