Laboratory assessment of transthyretin amyloidosis

Merrill Benson, Masahide Yazaki, Nadine Magy

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

Mutations in transthyretin (TTR) are the most common cause of autosomal dominant systemic amyloidosis. To date, more than 80 TTR mutations have been associated with amyloidosis in humans. A high prevalence of some mutations like Val122Ile which is identified in 3% of African Americans indicates the necessity of thorough investigation of patients suspected of having, or to be at risk of developing, TTR amyloidosis. Laboratory tests available for evaluation of TTR amyloidosis include both DNA and protein assays. In the case of a known mutation DNA analysis is realized by restriction fragment length polymorphism (RFLP), polymerase chain reaction-induced mutation restriction analysis (PCR-IMRA), single strand confirmation polymorpism (SSCP) or nucleotide sequencing. SSCP, PCR-non-isotopic RNAse cleavage assay (NIRCA) or nucleotide sequencing are used to identify an unknown mutation. At the protein level, two techniques are used, isoelectric focusing and mass spectrometry, in both cases (known or unknown mutation). The identification of a previously unknown mutation requires a combination of clinical, pathological and molecular studies.

Original languageEnglish
Pages (from-to)1262-1265
Number of pages4
JournalClinical Chemistry and Laboratory Medicine
Volume40
Issue number12
DOIs
StatePublished - 2002

Fingerprint

Prealbumin
Mutation
Assays
Nucleotides
Polymerase chain reaction
DNA
Amyloidosis
Polymorphism
Mass spectrometry
Proteins
Polymerase Chain Reaction
Amyloidosis, Hereditary, Transthyretin-Related
Isoelectric Focusing
Restriction Fragment Length Polymorphisms
African Americans
Mass Spectrometry

Keywords

  • Amyloidosis
  • DNA assays
  • Inherited disease
  • Protein analysis
  • Transthyretin

ASJC Scopus subject areas

  • Clinical Biochemistry

Cite this

Laboratory assessment of transthyretin amyloidosis. / Benson, Merrill; Yazaki, Masahide; Magy, Nadine.

In: Clinical Chemistry and Laboratory Medicine, Vol. 40, No. 12, 2002, p. 1262-1265.

Research output: Contribution to journalArticle

Benson, Merrill ; Yazaki, Masahide ; Magy, Nadine. / Laboratory assessment of transthyretin amyloidosis. In: Clinical Chemistry and Laboratory Medicine. 2002 ; Vol. 40, No. 12. pp. 1262-1265.
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