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.
Export Options
About this article
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 |
Call for Papers in Thematic Issues
Mass spectrometry data acquisition and analysis for proteomics
The Thematic Issue on "Mass spectrometry data acquisition and analysis for proteomics" aims to explore the latest advancements and challenges in the field of proteomics through the lens of mass spectrometry. Proteomics, the large-scale study of proteins and their functions, plays a crucial role in understanding various biological processes and ...read more
Peptides: State-of-Art and Commercialisation Hurdles
The Editors of the Current Proteomics (CP) journal are highly privileged to welcome scientists to submit their scientific research and review articles to be considered for publication in the upcoming thematic issue. The topics should cover various aspects of peptides in regard to their synthetic methodologies, formulation approaches, pharmacological challenges, ...read more
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
On the Structural Basis of the Hypertensive Properties of Angiotensin II: A Solved Mystery or a Controversial Issue?
Current Topics in Medicinal Chemistry Retroviral Vector-mediated Gene Therapy for Metabolic Diseases: An Update
Current Pharmaceutical Design Reactive Oxygen Species in Vascular Wall
Cardiovascular & Hematological Disorders-Drug Targets Cardiac Protection via Metabolic Modulation: An Emerging Role for Incretin-Based Therapies?
Cardiovascular & Hematological Agents in Medicinal Chemistry Variability in the Response to Non-pharmacological Treatments in Patients with Cardiovascular Diseases
Current Pharmacogenomics and Personalized Medicine Proteomics Analysis Revealed an Altered Left Ventricle Protein Profile in a Mouse Model of Transverse Aortic Constriction
Protein & Peptide Letters The Role of Atypical Antipsychotic Agents in the Treatment of Schizophrenia and Schizoaffective Disorders in the Elderly
Current Drug Safety Patent Selections
Recent Patents on Endocrine, Metabolic & Immune Drug Discovery Retraction Note: Phytochemicals from Plants to Combat Cardiovascular Disease
Current Medicinal Chemistry Anti-tumoral Properties of Endogenous Angiogenesis Inhibitors: A Case for Continued TIMP-2 Preclinical Development
Current Angiogenesis (Discontinued) Prognostic Role of Sub-Clinical Hypothyroidism in Chronic Heart Failure Outpatients
Current Pharmaceutical Design Bacteremic Streptococcus pneumoniae in Community-Acquired Pneumonia: An Update
Current Respiratory Medicine Reviews The Role of Molecular Imaging in the Assessment of Cardiac Amyloidosis: State-of-the-Art
Current Radiopharmaceuticals The Expression, Function and Targeting of Haem Oxygenase-1 in Cancer
Current Cancer Drug Targets Free Radicals in Diseases and Potential Role of Phytoconstituents-A Cause with Emerging Importance
Current Chemical Biology Ginsenosides from the Leaves and Flower Buds of Panax ginseng and their Pharmacological Effects
Current Bioactive Compounds Characterization of a Novel Polysaccharide-Iron(III) Complex and Its Anti-Anemia and Nonspecific Immune Regulating Activities
Mini-Reviews in Medicinal Chemistry Molecular Mechanisms of Renal Blood Flow Autoregulation
Current Vascular Pharmacology Iron Overload is Associated with Perihematoma Edema Growth Following Intracerebral Hemorrhage that may Contribute to In-hospital Mortality and Long-term Functional Outcome
Current Neurovascular Research Pleiotropic Effects of Statins - Clinical Evidence
Current Pharmaceutical Design