Familial amyloid polyneuropathy related to transthyretin Gly42 in a Japanese family.
A Japanese family is described in which 6 persons showed familial amyloid polyneuropathy (FAP). Mean ages of onset were 38 for 4 males and 54 for 2 females. Three of the 6 became emaciated and died after 4 to 10 years. In 5, muscular weakness and autonomic dysfunction were the initial symptoms followed by sensory disturbances. Amyloidotic cardiomyopathy was present in 3 of the subjects. Amyloid deposits showed an immunohistological relation to transthyretin (TTR). Analysis of 1 patient's TTR gene revealed a single base change (A----G) that led to amino acid substitution (Glu42----Gly). This base change produced a new restriction site for endonuclease Cfr13 I in exon 2. Polymorphic analysis of the length of the Cfr13 I-restriction fragment confirmed the base change, and made it possible to detect the mutant TTR Gly42 gene in the FAP subjects. Amino acid sequencing analysis showed a variant of TTR Gly42 in 1 patient's serum.
Uemichi
T
T
Second Department of Internal Medicine, Osaka University Medical School, Japan.
Ueno
S
S
Fujimura
H
H
Umekage
T
T
Yorifuji
S
S
Matsuzawa
Y
Y
Tarui
S
S
D000328:Adult; D000686:Amyloidosis / Q000235:genetics*; D001342:Autonomic Nervous System Diseases / Q000235:genetics*; D001706:Biopsy; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009133:Muscular Atrophy / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D011228:Prealbumin / Q000235:genetics*; D013497:Sural Nerve / Q000473:pathology
D011228:Prealbumin