A NEW TRANSTHYRETIN MUTATION ASSOCIATED WITH AMYLOID CARDIOMYOPATHY

• Type: Article in International Scientific Journal
• Date: 1992

Authors

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

Journal

Title: American Journal of Human Genetics

Vol. 50

Pages: 1027-1030

ISSN: 0002-9297

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 30 Citations

Scopus - 31 Citations

Scientific classification

FOS: Natural sciences > Earth and related Environmental sciences

Other information

Authenticus ID: 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 4