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Grand Magnate
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Join Date: Jan 2015
Location: Sydney, Australia.
Posts: 3,093
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Grand Magnate
Join Date: Jan 2015
Location: Sydney, Australia.
Posts: 3,093
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My students and I have done a fair bit of work on the basic science of the TTR amyloidoses, including a number of published papers.
Familial amyloid polyneuropathy (FAP) is usually associated with the L55P mutation (very aggressive) and sometimes the V30M (less aggressive) mutation in the TTR gene.
As the article says, FAP is an autosomal dominant condition which means that somebody only needs to inherit one copy of the mutant gene to get it. It is very uncommon, mainly affecting kindreds from Sweden and Portugal.
In practical terms, what this means is that somebody who is at risk of FAP will have a strong family history of it (sporadic amyloidogenic mutations in the TTR gene are extremely rare).
If there is no family history then there is nothing to worry about.
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