A NEW TRANSTHYRETIN MUTATION ASSOCIATED WITH AMYLOID CARDIOMYOPATHY

• Tipo: Artigo em Revista Científica Internacional
• Data: 1992

Autores

SARAIVA, MJM (Autor) ICBAS; ALMEIDA, MR (Autor) ICBAS; SHERMAN, W (Autor) Outra; GAWINOWICZ, M (Autor) Outra; COSTA, P (Autor) ICBAS; COSTA, PP (Autor) Outra; GOODMAN, DS (Autor) Outra

Revista

Título: American Journal of Human Genetics

Vol. 50

Páginas: 1027-1030

ISSN: 0002-9297

Editora: Elsevier

Indexação

ISI Web of Knowledge - 30 Citações

Scopus - 31 Citações

Classificação Científica

FOS: Ciências exactas e naturais > Ciências da terra e ciências do ambiente

Outras Informações

ID Authenticus: P-001-PKK

Abstract (EN): In transthyretin (TTR) a new mutation (TTR-Thr45) has been identified in a patient with familial amyloidosis characterized clinically by prominent cardiomyopathy and the absence of peripheral neuropathy. Comparative peptide mapping by high-performance liquid chromatography of the patient's plasma TTR together with normal TTR showed the presence of an abnormal tryptic peptide in the patient's TTR. The sequence of this peptide (peptide 6, residues 36-48) demonstrated the presence of a threonine-for-alanine substitution at position 45. This change can be explained by a single base change of adenine for guanine in the Ala-45 codon and was demonstrated directly by DNA sequence analysis of PCR-amplified exon 2 of the TTR gene; allele-specific oligonucleotide hybridization both in the patient and in fixed heart tissue from his aunt confirmed the base change. The TTR-Thr45 mutation is a new variant TTR found associated with cardiomyopathy.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 4