Common origin of the Val30Met mutation responsible for the amyloidogenic transthyretin type of familial amyloidotic polyneuropathy.
نویسندگان
چکیده
H Ohmori, Y Ando, Y Makita, Y Onouchi, T Nakajima, M J M Saraiva, H Terazaki, O Suhr, G Sobue, M Nakamura, M Yamaizumi, M Munar-Ques, I Inoue, M Uchino, A Hata . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
منابع مشابه
Accelerating restrictive cardiomyopathy after liver transplantation in a patient with familial amyloidotic polyneuropathy: a case report
INTRODUCTION Hereditary amyloidodis is a rare disease process with a propensity to cause polyneuropathies, autonomic dysfunction, and restrictive cardiomyopathy. It is transmitted in an autosomal dominant manner, with disease onset usually in the 20s-40s. The most common hereditary amyloidogenic protein, transthyretin, is synthesized in the liver and lies on Chromosome 18. Over 80 amyloidogenic...
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Familial amyloid polyneuropathy (FAP) is an autosomal dominant inherited disease, characterized by systemic deposition of amyloid fibrils in various tissues, especially in peripheral nerves, being a variant of transthyretin (TTR) the principal component of amyloid fibrils. TTR is a normal plasma protein (previously called prealbumin) that functions as a transport protein binding tiroxine and re...
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PURPOSE Familial amyloidotic polyneuropathy (FAP) is an inherited disease caused by deposition of mutant amyloid proteins in the peripheral nerves. Abnormal transthyretin (TTR) accounts for protein aggregation in the majority of FAP. Val30Met is the most common TTR gene-mutation reported in different ethnic populations. In Taiwan, Ala97Ser mutation is probably a major hot-spot of TTR mutations....
متن کاملMonitoring safety and effectiveness of Tafamidis in transthyretin amyloidosis in Italy: a 3-year longitudinal multicenter study in a non-endemic area
Background Tafamidis is a transthyretin (TTR) stabilizer able to prevent mutated TTR tetramer dissociation into amyloidogenic monomers. There have been a few encouraging studies on safety and long-term efficacy of Tafamidis in early-onset Val30Met TTR-familial amyloid polyneuropathy (TTR-FAP) patients. However, less is known about its efficacy in later stages of the disease and in non-Val30Met ...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 41 4 شماره
صفحات -
تاریخ انتشار 2004