A negative screen for mutations in calstabin 1 and 2 genes in patients with dilated cardiomyopathy

Autor(es)

Biagi, Diogo G. ; Mill, Jose G. ; Mansur, Alfredo J. ; Krieger, Jose E. ; Pereira, Alexandre C.

• Tipo de documento: Artigo Científico
• Fonte: JOURNAL OF NEGATIVE RESULTS IN BIOMEDICINE; v. 11, p. 5-pg., 2012-01-01.

Resumo

Background: Calstabins 1 and 2 bind to Ryanodine receptors regulating muscle excitation-contraction coupling. Mutations in Ryanodine receptors affecting their interaction with calstabins lead to different cardiac pathologies. Animal studies suggest the involvement of calstabins with dilated cardiomyopathy. Results: We tested the hypothesis that calstabins mutations may cause dilated cardiomyopathy in humans screening 186 patients with idiopathic dilated cardiomyopathy for genetic alterations in calstabins 1 and 2 genes (FKBP12 and FKBP12.6). No missense variant was found. Five no-coding variations were found but not related to the disease. Conclusions: These data corroborate other studies suggesting that mutations in FKBP12 and FKBP12.6 genes are not commonly related to cardiac diseases. (AU)

• Processo FAPESP: 08/51652-0 - Investigação genética em pacientes com cardiomiopatia dilatada
• Beneficiário: Diogo Gonçalves Biagi dos Santos
• Modalidade de apoio: Bolsas no Brasil - Mestrado