Abstract
Of systemic type of amyloidosis, transthyretin (TTR)-related familial amyloidotic polyneuropathy (FAP) is a fatal hereditary amyloidosis with autosomal dominant trait. As of today, reports of 121 different points of mutations or a deletion in the TTR gene have been identified. In addition, senile systemic amyloidosis induced by wild type TTR has been focused in the recent attention. Early diagnosis of FAP is absolutely imperative for the treatments, because duration of the disease is one of the most important prognostic factors for patients survival after treatments including liver transplantation. To make a diagnosis of FAP sooner, we established a novel rapid diagnostic system. It included histopathological, genetic and proteomic techniques used to detect amyloid deposits in tissues, genetic mutations of the TTR gene, and variant TTR in serum. Mass spectrometric analyses can clearly detect TTR variants in the most of FAP cases and can be used for screening and double checking TTR variants with the genetic testing. In this review, we introduce recent research progress in ATTR amyloidosis and our diagnostic system.
Keywords: Amyloidosis, familial amyloidotic polyneuropathy, FAP, genetic testing, mass spectrometric analysis, senile systemic amyloidosis, SSA, transthyretin
Current Proteomics
Title: Proteomics for Transthyretin (TTR) Related Amyloidosis
Volume: 8 Issue: 3
Author(s): Yukio Ando and Mitsuharu Ueda
Affiliation:
Keywords: Amyloidosis, familial amyloidotic polyneuropathy, FAP, genetic testing, mass spectrometric analysis, senile systemic amyloidosis, SSA, transthyretin
Abstract: Of systemic type of amyloidosis, transthyretin (TTR)-related familial amyloidotic polyneuropathy (FAP) is a fatal hereditary amyloidosis with autosomal dominant trait. As of today, reports of 121 different points of mutations or a deletion in the TTR gene have been identified. In addition, senile systemic amyloidosis induced by wild type TTR has been focused in the recent attention. Early diagnosis of FAP is absolutely imperative for the treatments, because duration of the disease is one of the most important prognostic factors for patients survival after treatments including liver transplantation. To make a diagnosis of FAP sooner, we established a novel rapid diagnostic system. It included histopathological, genetic and proteomic techniques used to detect amyloid deposits in tissues, genetic mutations of the TTR gene, and variant TTR in serum. Mass spectrometric analyses can clearly detect TTR variants in the most of FAP cases and can be used for screening and double checking TTR variants with the genetic testing. In this review, we introduce recent research progress in ATTR amyloidosis and our diagnostic system.
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Cite this article as:
Ando Yukio and Ueda Mitsuharu, Proteomics for Transthyretin (TTR) Related Amyloidosis, Current Proteomics 2011; 8 (3) . https://dx.doi.org/10.2174/157016411797247459
DOI https://dx.doi.org/10.2174/157016411797247459 |
Print ISSN 1570-1646 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-6247 |
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