Abnormal Transthyretin in Familial Amyloidotic Polyneuropathy in Japan and Sweden
In order to clarify the biochemical abnormalities of familial amyloidotic polyneuropathy in northern Sweden and in various districts of Japan, amino acid sequencing study and radioimmunoassay were perfomed. The results indicated that both Japanese and Swedish FAP patients have systemic deposition of a variant transthyretin with a methionine-for-valine substitution at position 30. This variant transthyretin was present in the serum and the cerebrospinal fluid of FAP patients and half of their children. The variant transthyretin was detected in ten elderly asymptomatic carriers of FAP whose ages are far beyond the usual age of onset of the disease.
KeywordsHigh Performance Liquid Chromatography Sporadic Case Amyloid Fibril Biochemical Abnormality Cyanogen Bromide
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