A new transthyretin variant (Ser2 sn) associated with familial amyloidosis in a Portuguese patient
- 1 January 1999
- journal article
- research article
- Published by Informa UK Limited in Amyloid
- Vol. 6 (2), 114-118
- https://doi.org/10.3109/13506129909007311
Abstract
The detection and characterization of a new transthyretin (ATTR) variant, Ser2 sn, associated with car-diomyopathy in a Portuguese patient with familial amyloidosis is described Isoelectric focusing (IEF) of serum from the propositus demonstrated heterozygosity for the presence of wild type and variant ATTR. A combination of mass spec-trometric (MS) analyses, including electrospray ionization mass spectrometry (ESI MS), high performance liquid chromatography (HPLC)/ESI MS and matrix-assisted laser desorption/ionization mass spectrometry (MALDI MS) performed on the serum-derived TTR were used to identify and locate the amino acid replacement in the variant protein. Genetic mutation analysis by DNA sequencing and allele-specific PCR confirmed this finding.Keywords
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