Homozygosity for the transthyretin‐met 30 ‐gene in two Swedish sibs with familial amyloidotic polyneuropathy
1988; Wiley; Volume: 34; Issue: 5 Linguagem: Inglês
10.1111/j.1399-0004.1988.tb02887.x
ISSN1399-0004
AutoresGösta Holmgren, E. Hættner, Ingrid Nordenson, O Sandgren, Lars Steen, Erik Lundgren,
Tópico(s)Alzheimer's disease research and treatments
ResumoFamilial amyloidotic polyneuropathy (FAP) is an autosomal dominant inherited disorder. Recent biochemical studies have revealed that amyloid protein in FAP of Japanese, Swedish and Portuguese origin mainly consists of a variant transthyretin (TTR) (formerly called prealbumin) with one amino acid substitution of methionine for valine at position 30. In a 56‐year‐old man with typical polyneuropathy, gastrointestinal problems and vitreous amyloid, we diagnosed homozygosity for the TTR‐met 30 ‐gene using RFLP analysis. In a family study, a sister presented the same homozygous RFLP pattern; however, in a careful clinical investigation we were not able to demonstrate any of the typical symptoms of FAP, nor could we demonstrate amyloid deposits in a biopsy skin specimen. This is the first report of homozygosity for the TTR‐met 30 ‐gene, and it shows that the mutation of the protein involved in amyloid formation may be necessary but is clearly not sufficient for the clinical symptoms.
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