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Transthyretin-related familial amyloidotic polyneuropathy-Progress in Kumamoto, Japan (1967-2010)-.

Araki S, Ando Y - Proc. Jpn. Acad., Ser. B, Phys. Biol. Sci. (2010)

Bottom Line: As of today, reports of about 100 different points of single or two mutations, or a deletion in the transthyretin (TTR) gene, have been published.The authors' group has made pioneer works for study of FAP in the world.The focus on therapy in amylodosis will increase sharply as an impetus in near future, and successful treatments are expected.

View Article: PubMed Central - PubMed

Affiliation: Kumamoto University, Japan. somu@omutatenryo-hp.jp

ABSTRACT
The authors reviewed contribution of Kumamoto University group to the progress of the studies on transthyretin (TTR)-related familial amyloidotic polyneuropathy (TTR-related FAP) for 42 years (from 1967 to 2009). Andrade (1952) first described a large group of patients with FAP in Portugal and Araki et al. (1967) in second discovered similar FAP patients in Arao, Kumamoto, Japan. Owing to progress in biochemical and molecular genetic analyses, FAP is now believed to occur worldwide. As of today, reports of about 100 different points of single or two mutations, or a deletion in the transthyretin (TTR) gene, have been published. The authors' group has made pioneer works for study of FAP in the world. The focus on therapy in amylodosis will increase sharply as an impetus in near future, and successful treatments are expected.

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Related in: MedlinePlus

Distribution of FAP in the world. Locations of foci of FAP ATTR Val30Met patients described in previous reports and obtained from personal communications are presented.
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fig01: Distribution of FAP in the world. Locations of foci of FAP ATTR Val30Met patients described in previous reports and obtained from personal communications are presented.

Mentions: Familial amyloidotic polyneuropathy (FAP) is a hereditary amyloidosis in which amyloidogenic mutated transthyretin (ATTR), apolipoprotein A-I (AApoA-I), and gelsolin (Agel) have been identified as FAP-related amyloidogenic proteins.1) Of these proteins, ATTR is the most common throughout the world.2–4) Andrade first reported a large group of patients with FAP ATTR Val30Met in Portugal in 1952,5) and other large foci have been discovered in Japan by Araki et al.6) and in Sweden by Andersson et al.7) Until 20 years ago, FAP was thought to be a disease restricted to endemic occurrence in those areas. However, owing to progress in biochemical and molecular genetic analyses, this disease is now believed to occur worldwide (Fig. 1).2–4)


Transthyretin-related familial amyloidotic polyneuropathy-Progress in Kumamoto, Japan (1967-2010)-.

Araki S, Ando Y - Proc. Jpn. Acad., Ser. B, Phys. Biol. Sci. (2010)

Distribution of FAP in the world. Locations of foci of FAP ATTR Val30Met patients described in previous reports and obtained from personal communications are presented.
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3066541&req=5

fig01: Distribution of FAP in the world. Locations of foci of FAP ATTR Val30Met patients described in previous reports and obtained from personal communications are presented.
Mentions: Familial amyloidotic polyneuropathy (FAP) is a hereditary amyloidosis in which amyloidogenic mutated transthyretin (ATTR), apolipoprotein A-I (AApoA-I), and gelsolin (Agel) have been identified as FAP-related amyloidogenic proteins.1) Of these proteins, ATTR is the most common throughout the world.2–4) Andrade first reported a large group of patients with FAP ATTR Val30Met in Portugal in 1952,5) and other large foci have been discovered in Japan by Araki et al.6) and in Sweden by Andersson et al.7) Until 20 years ago, FAP was thought to be a disease restricted to endemic occurrence in those areas. However, owing to progress in biochemical and molecular genetic analyses, this disease is now believed to occur worldwide (Fig. 1).2–4)

Bottom Line: As of today, reports of about 100 different points of single or two mutations, or a deletion in the transthyretin (TTR) gene, have been published.The authors' group has made pioneer works for study of FAP in the world.The focus on therapy in amylodosis will increase sharply as an impetus in near future, and successful treatments are expected.

View Article: PubMed Central - PubMed

Affiliation: Kumamoto University, Japan. somu@omutatenryo-hp.jp

ABSTRACT
The authors reviewed contribution of Kumamoto University group to the progress of the studies on transthyretin (TTR)-related familial amyloidotic polyneuropathy (TTR-related FAP) for 42 years (from 1967 to 2009). Andrade (1952) first described a large group of patients with FAP in Portugal and Araki et al. (1967) in second discovered similar FAP patients in Arao, Kumamoto, Japan. Owing to progress in biochemical and molecular genetic analyses, FAP is now believed to occur worldwide. As of today, reports of about 100 different points of single or two mutations, or a deletion in the transthyretin (TTR) gene, have been published. The authors' group has made pioneer works for study of FAP in the world. The focus on therapy in amylodosis will increase sharply as an impetus in near future, and successful treatments are expected.

Show MeSH
Related in: MedlinePlus