AMYLOIDOGENIC AND NONAMYLOIDOGENIC TRANSTHYRETIN ASN-90 VARIANTS

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

Authors

ALVES, IL (Author) Other; ALMEIDA, MR (Author) ICBAS; SKARE, J (Author) Other; SKINNER, M (Author) Other; KUROSE, K (Author) Other; SAKAKI, Y (Author) Other; COSTA, PP (Author) Other; SARAIVA, MJM (Author) ICBAS

Journal

Title: Clinical Genetics

Vol. 42

Pages: 27-30

ISSN: 0009-9163

Publisher: Wiley-Blackwell

Indexing

ISI Web of Knowledge - 8 Citations

Scopus - 8 Citations

Scientific classification

FOS: Natural sciences > Earth and related Environmental sciences

Other information

Authenticus ID: P-001-PDB

Abstract (EN): Recently, a new transthyretin (TTR) variant was described in the normal Portuguese and German populations. The same substitution was found associated with familial amyloidotic polyneuropathy (FAP) in an American family of Italian origin. Comparative isoelectric focusing studies showed a difference in the mobility pattern between the non-pathogenic and pathogenic variants. However, comparative DNA sequencing between them did not reveal any additional mutation. Comparative isoelectric focusing between the variants and TTR Asn 90 produced by recombinant techniques indicated that the non-pathogenic variant has the electrophoretic behaviour expected for the mutation. We suggest that an as yet unknown post-translational modification may have occurred in the FAP-associated Asn 90 variant, turning it into an amyloidogenic molecule.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 4