Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement.
Mutations in the protein transthyretin cause amyloidosis involving the heart, peripheral nerves, and other organs. A family from West Virginia developed an unusually aggressive form of widespread transthyretin amyloidosis. Single-strand conformation polymorphism analysis revealed a variant in the transthyretin gene, which was found on sequencing to be a T----C transversion at position 2 of codon 55, corresponding to a Leu----Pro substitution. The variant sequence was confirmed by restriction analysis and polymerase chain reaction (PCR)-primer introduced restriction analysis.
Jacobson
D R
DR
Research Service, New York V.A. Medical Center, New York 10010.
McFarlin
D E
DE
Kane
I
I
Buxbaum
J N
JN
D000686:Amyloidosis / Q000235:genetics*; D001483:Base Sequence; D009202:Cardiomyopathies / Q000235:genetics*; D002461:Cell Line, Transformed; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D009690:Nucleic Acid Conformation; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011228:Prealbumin / Q000235:genetics*; D011392:Proline / Q000235:genetics
D011228:Prealbumin; D011392:Proline