title: A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient.
abstract: The detection and characterization of a new transthyretin (ATTR) variant, Ser23Asn, associated with cardiomyopathy 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 spectrometric (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.
authors.affiliation: Amyloid Treatment and Research Program, Boston University School of Medicine 02118, USA. lconnors@bu.edu
authors.forename: L H
authors.initials: LH
authors.lastname: Connors
authors.forename: R
authors.initials: R
authors.lastname: Théberge
authors.forename: J
authors.initials: J
authors.lastname: Skare
authors.forename: C E
authors.initials: CE
authors.lastname: Costello
authors.forename: R H
authors.initials: RH
authors.lastname: Falk
authors.forename: M
authors.initials: M
authors.lastname: Skinner
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D000686:Amyloidosis / Q000235:genetics*; D001216:Asparagine / Q000737:chemistry / Q000235:genetics; D002851:Chromatography, High Pressure Liquid; D006801:Humans; D007122:Immunoelectrophoresis; D007525:Isoelectric Focusing; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D011174:Portugal; D011228:Prealbumin / Q000737:chemistry* / Q000235:genetics; D012694:Serine / Q000737:chemistry / Q000235:genetics; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
chemical_list: D011228:Prealbumin; D012694:Serine; D001216:Asparagine