PMID- 10611950
OWN - NLM
STAT- MEDLINE
DCOM- 20000119
LR  - 20191103
IS  - 1350-6129 (Print)
IS  - 1350-6129 (Linking)
VI  - 6
IP  - 4
DP  - 1999 Dec
TI  - Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant
      transthyretin in the diagnosis of familial amyloid polyneuropathy.
PG  - 282-8
AB  - A matrix-assisted laser desorption ionization/time-of-flight (MALDI/TOF) mass
      spectrometry (MS) system was used to detect variant transthyretin (TTR) in
      immunoprecipitated serum TTR molecules obtained from 6 patients with familial
      amyloid polyneuropathy (FAP) who were already proven not to have ATTR Val30Met.
      This simple and quick method showed six different patterns of mass spectra of
      TTR-related immunoprecipitates from these patients, and in each patient the
      clearly identified characteristic doublet-shaped ion peaks consisted of normal
      and variant TTR apart from each other peak with a mass difference between them.
      DNA sequencing confirmed that the patterns of variant TTR corresponded
      respectively to ATTR Val30Leu, ATTR Phe33Val, ATTR Asp38Ala, ATTR Ser50Arg, ATTR 
      Ala97Gly and ATTR Ala97Ser. ATTR Asp38Ala and ATTR Ala97Ser are previously
      unknown variants of TTR leading to the development of FAP. ATTR Phe33Val was
      found in a Chinese FAP patient and ATTR Ala97Ser in a Taiwanese. Serum analysis
      using immunoprecipitation and MALDI/TOF MS system can provide useful information 
      when investigating FAP patients with diverse types of variant TTR.
FAU - Tachibana, N
AU  - Tachibana N
AD  - Department of Medicine (Neurology), Shinshu University School of Medicine,
      Matsumoto, Japan.
FAU - Tokuda, T
AU  - Tokuda T
FAU - Yoshida, K
AU  - Yoshida K
FAU - Taketomi, T
AU  - Taketomi T
FAU - Nakazato, M
AU  - Nakazato M
FAU - Li, Y F
AU  - Li YF
FAU - Masuda, Y
AU  - Masuda Y
FAU - Ikeda, S
AU  - Ikeda S
LA  - eng
PT  - Case Reports
PT  - Clinical Trial
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Amyloid
JT  - Amyloid : the international journal of experimental and clinical investigation : 
      the official journal of the International Society of Amyloidosis
JID - 9433802
RN  - 0 (Prealbumin)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Amyloid Neuropathies/blood/*diagnosis/genetics
MH  - DNA/chemistry/isolation & purification
MH  - Female
MH  - Humans
MH  - Leukocytes/metabolism
MH  - Male
MH  - Middle Aged
MH  - Mutation
MH  - Polymerase Chain Reaction
MH  - Prealbumin/chemistry/*genetics
MH  - Precipitin Tests
MH  - Sequence Analysis
MH  - *Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
EDAT- 1999/12/28 00:00
MHDA- 1999/12/28 00:01
CRDT- 1999/12/28 00:00
PHST- 1999/12/28 00:00 [pubmed]
PHST- 1999/12/28 00:01 [medline]
PHST- 1999/12/28 00:00 [entrez]
AID - 10.3109/13506129909007341 [doi]
PST - ppublish
SO  - Amyloid. 1999 Dec;6(4):282-8. doi: 10.3109/13506129909007341.