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Abstract
Human plasma transthyretin (TTR, a protein formerly called prealbumin) is known to
be associated with familial amyloidotic polyneuropathy (FAP) of autosomal inheritance.
A variant TTR with a methionine-for-valine substitution at position 30 has been described
as the major protein component of amyloid in Portuguese and Japanese patients with
FAP and in patients of Swedish ancestry with FAP. In these patients, TTR(Met30) also circulates in relatively low concentration in the plasma. TTR variants having
substitutions in other positions have also been reported in a patient of Jewish origin
with FAP. We now report studies on TTR from an FAP kindred of Greek ancestry. By peptide
mapping analysis, plasma TTR from the propositus was compared with TTR from a Portuguese
patient with FAP. TTR(Met30) was found to circulate in the blood plasma of the Greek propositus. By use of a
recently developed immunoblotting technique, this variant TTR was also detected in
some of the relatives of the propositus. Future studies of this mutant gene among
ethnically different FAP populations might contribute to an understanding of selection
and persistence of the mutation.
Abbreviations:
CNBr (cyanogen bromide), DEAE (diethylaminoethyl), FAP (familial amyloidotic polyneuropathy), HPLC (high-performance liquid chromatography), PAGE (polyacrylamide gel electrophoresis), TTR (transthyretin)To read this article in full you will need to make a payment
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Article info
Publication history
Accepted:
March 18,
1986
Received:
November 15,
1985
Footnotes
☆Supported by National Institutes of Health Grants HL 21006 (SCOR) and AM 05968.
Identification
Copyright
© 1986 Published by Elsevier Inc.
