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
-
Heme Oxygenase System and Hypertension: A Comprehensive Insight
Current Pharmaceutical Design TNF alpha Inhibition as Treatment Modality for Certain Rheumatologic and Gastrointestinal Diseases
Endocrine, Metabolic & Immune Disorders - Drug Targets Atrial Tachycardias Occurring Late After Open Heart Surgery
Current Cardiology Reviews Inhibition of Receptor Tyrosine Kinases in Combination with Chemotherapy for the Treatment of Breast Cancer
Anti-Cancer Agents in Medicinal Chemistry Editorial
Recent Patents on Endocrine, Metabolic & Immune Drug Discovery Ozone: A Multifaceted Molecule with Unexpected Therapeutic Activity
Current Medicinal Chemistry Role of β 2-Adrenoceptor Activation in Sepsis-Induced Renal Inflammation
Current Immunology Reviews (Discontinued) Modulation of Angiotensin II Effects, A Potential Novel Approach to Inflammatory and Immune Diseases
Current Medicinal Chemistry - Anti-Inflammatory & Anti-Allergy Agents Renovascular Hypertension: Novel Insights
Current Hypertension Reviews Editorial: New Therapetic Approaches in the Management of Ischemia Reperfusion Injury and Cardiometabolic Diseases: Opportunities and Challenges
Current Drug Targets A Review on Novel Ligand Targeted Delivery for Cardiovascular Disorder
Current Drug Delivery Role of PPAR in Cardiovascular Diseases
Recent Patents on Cardiovascular Drug Discovery Anti-cancer Nitrogen-Containing Heterocyclic Compounds
Current Organic Chemistry Long-Term Exposure to Ambient Hydrocarbons Increases Dementia Risk in People Aged 50 Years and above in Taiwan
Current Alzheimer Research Oxytocin in the Heart Regeneration
Recent Patents on Cardiovascular Drug Discovery Recent Advances in the Synthesis and Anticancer Activity of Some Molecules Other Than Nitrogen Containing Heterocyclic Moeities
Mini-Reviews in Medicinal Chemistry Neuro-Psychological Pattern in Patients Suffering from Primitive Dilated Cardiomyopathy with Impairment in Executive Function
Current Neurovascular Research Repurposing of Benzimidazole Scaffolds for HER2 Positive Breast Cancer Therapy: An <i>In-Silico</i> Approach
Current Drug Research Reviews Cyclin-Dependent Kinase 4/6 (Cdk4/6) Inhibitors: Perspectives in Cancer Therapy and Imaging
Mini-Reviews in Medicinal Chemistry Risk Factors and Potential Preventive Measures for Vascular Disease Progression in Hemodialysis Patients
Vascular Disease Prevention (Discontinued)