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BIBTEX RIS

Identification of a new variant of TTR involved in familial amyloid cardiomyopathy (FAC) in Brazil: from the patient to the protein

2015; BioMed Central; Volume: 10; Issue: Suppl 1 Linguagem: Inglês

10.1186/1750-1172-10-s1-p55

ISSN

1750-1172

Autores

Priscila S. Ferreira, Carolina M. M. C. Andrade, Ricardo Sant’Anna, Natalia Varejão, Sergi Ventura, Fernando L. Palhano, Márcia Waddington‐Cruz, Débora Foguel,

Tópico(s)

Endoplasmic Reticulum Stress and Disease

Resumo

Background In Brazil, the most prevalent cases of TTR-related amyloidoses is the V30M variant due the Portuguese colonization. Our group has stablished a center for molecular diagnostic of FAP. Since then, we have sequenced almost one hundred patients form the University Hospital and their relatives. Recently, we identified a patient with a severe cardiomyopathy. This patient has a German ancestry and the sequence of his TTR gene revealed the presence of a new mutation, namely A19D. This patient presented heart failure and was classified by the NIHA as IV. We have also identified a patient, 66-years old, from a family with African ancestry, which bears the typical V122I mutation. This patient presented carpal tunnel syndrome and two years later developed heart failure that progressed to NYHA III. The main goal of the present work is to characterize the Brazilian population with FAC by combining bioinformatics and biophysical studies.

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