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 |
- 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
Related Articles
-
Acute Fulminant Hepatatis in Kidney Transplant Recipient After Repeated Sevoflurane Anesthesia - A Case Report and Literature Review
Current Drug Safety Matrix Metalloproteinase Knockout Studies and the Potential Use of Matrix Metalloproteinase Inhibitors in the Rheumatic Diseases
Current Drug Targets - Inflammation & Allergy Headache: One of the Most Common and Troublesome Adverse Reactions to Drugs
Current Drug Safety Extracellular Matrix and Aberrant Signaling in Lung Carcinoma: Role of Fibronectin in the Control of Human Lung Carcinoma Cell Growth,Apoptosis and Resistance to Therapy
Current Signal Transduction Therapy Hypoxia in Du-145 Prostate Cancer Xenografts After Estramustine Phosphate and Radiotherapy
Current Radiopharmaceuticals Role of ERK1/2 Activation In Thrombin-Induced Vascular Smooth Muscle Cell Hypertrophy
Current Hypertension Reviews Medications not Intended for Treatment of Dyslipidemias and with a Variable Effect on Lipids
Current Pharmaceutical Design Potential Application of Dietary Polyphenols from Red Wine to Attaining Healthy Ageing
Current Topics in Medicinal Chemistry Androgen Deficiency in Aging Male Questionnaire for the Clinical Detection of Testosterone Deficiency in a Population of Black Sub-Saharan African Men with Type 2 Diabetes Mellitus: Is it a Reliable Tool?
Current Diabetes Reviews Reactive Oxygen Species in Vascular Wall
Cardiovascular & Hematological Disorders-Drug Targets Synergistic Antitumor Effect of 5-Fluorouracil Combined with Constituents from <i>Pleurospermum lindleyanum</i> in Hepatocellular Carcinoma SMMC-7721 Cells
Anti-Cancer Agents in Medicinal Chemistry Promises and Challenges of Adult Stem Cells in Cancer Therapy
Immunology, Endocrine & Metabolic Agents in Medicinal Chemistry (Discontinued) Neurotransmitters and Chemokines Regulate Tumor Cell Migration: Potential for a New Pharmacological Approach to Inhibit Invasion and Metastasis Development
Current Pharmaceutical Design Biomarker Assessment in Nutritional Modulation of Oxidative Stress-Induced Cancer Development by Lipid-Related Bioactive Molecules
Recent Patents on Anti-Cancer Drug Discovery Ambient Pollution and COPD
Current Respiratory Medicine Reviews Fenofibrate and Metabolic Syndrome
Endocrine, Metabolic & Immune Disorders - Drug Targets The Role of Systemic Treatment and Radiotherapy in Malignant Mesothelioma
Current Respiratory Medicine Reviews Molecular Basis of Cardioprotection by Erythropoietin
Current Molecular Pharmacology Neutrophil to Lymphocyte (N/L) and Platelet to Lymphocyte (P/L) Ratios in Differentiating Acute Heart Failure from Respiratory Infection
Current Vascular Pharmacology Bone Tissue Regeneration - Application of Mesenchymal Stem Cells and Cellular and Molecular Mechanisms
Current Stem Cell Research & Therapy