Abstract
Hereditary amyloidogenic transthyretin (TTR) (ATTR) amyloidosis is an autosomal dominant form of fatal hereditary amyloidosis. Owing to progress in biochemical and molecular genetic analyses, this disease is now believed to occur worldwide. As of today, reports of about 120 different points of single or double mutations, or a deletion in the TTR gene have been reported, and several different phenotypes of ATTR amyloidosis have been documented. In addition, since liver transplantation has been established to halt the progression of hereditary ATTR amyloidosis in the early stage, rapid and reliable diagnostic system for ATTR amyloidosis is needed. On the other hand, senile systemic amyloidosis (SSA) derived from wild-type (WT) TTR affects primarily in the heart and lungs and occasionally in carpal ligaments in the elderly. To perform accurate diagnosis and effective treatments, we should distinguish between hereditary ATTR amyloidosis and SSA by means of genetic and proteomic analyses.
The liver transplantation for hereditary ATTR amyloidosis has become a well-established treatment, because the main source of serum variant TTR is shut out. However, this treatment has several problems, such as expensive medical costs, lifelong administration of immunosuppressants, non-indication for the mutated-TTR gene carriers without clinical symptoms, shortage of liver donors, and further development of cardiac and ocular disorders. Therefore, we and other ATTR amyloidosis research groups have been investigating the possibility of stabilization of variant TTR, gene therapy, and immunotherapy for ATTR amyloidosis on the basis of TTR amyloid formation mechanism.
We present here the current diagnostic procedure and therapeutic approaches for the disease.
Keywords: Amyloidosis, ATTR amyloidosis, gene therapy, immunotherapy, senile systemic amyloidosis, transthyretin, Hereditary, amyloidogenic transthyretin, autosomal dominant, biochemical and molecular genetic
Current Medicinal Chemistry
Title:Diagnosis and Therapeutic Approaches to Transthyretin Amyloidosis
Volume: 19 Issue: 15
Author(s): Y. Ando, M. Ueda
Affiliation:
Keywords: Amyloidosis, ATTR amyloidosis, gene therapy, immunotherapy, senile systemic amyloidosis, transthyretin, Hereditary, amyloidogenic transthyretin, autosomal dominant, biochemical and molecular genetic
Abstract: Hereditary amyloidogenic transthyretin (TTR) (ATTR) amyloidosis is an autosomal dominant form of fatal hereditary amyloidosis. Owing to progress in biochemical and molecular genetic analyses, this disease is now believed to occur worldwide. As of today, reports of about 120 different points of single or double mutations, or a deletion in the TTR gene have been reported, and several different phenotypes of ATTR amyloidosis have been documented. In addition, since liver transplantation has been established to halt the progression of hereditary ATTR amyloidosis in the early stage, rapid and reliable diagnostic system for ATTR amyloidosis is needed. On the other hand, senile systemic amyloidosis (SSA) derived from wild-type (WT) TTR affects primarily in the heart and lungs and occasionally in carpal ligaments in the elderly. To perform accurate diagnosis and effective treatments, we should distinguish between hereditary ATTR amyloidosis and SSA by means of genetic and proteomic analyses.
The liver transplantation for hereditary ATTR amyloidosis has become a well-established treatment, because the main source of serum variant TTR is shut out. However, this treatment has several problems, such as expensive medical costs, lifelong administration of immunosuppressants, non-indication for the mutated-TTR gene carriers without clinical symptoms, shortage of liver donors, and further development of cardiac and ocular disorders. Therefore, we and other ATTR amyloidosis research groups have been investigating the possibility of stabilization of variant TTR, gene therapy, and immunotherapy for ATTR amyloidosis on the basis of TTR amyloid formation mechanism.
We present here the current diagnostic procedure and therapeutic approaches for the disease.
Export Options
About this article
Cite this article as:
Y. Ando, M. Ueda , Diagnosis and Therapeutic Approaches to Transthyretin Amyloidosis, Current Medicinal Chemistry 2012; 19 (15) . https://dx.doi.org/10.2174/092986712800269317
DOI https://dx.doi.org/10.2174/092986712800269317 |
Print ISSN 0929-8673 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-533X |
Call for Papers in Thematic Issues
Advances in Medicinal Chemistry: From Cancer to Chronic Diseases.
The broad spectrum of the issue will provide a comprehensive overview of emerging trends, novel therapeutic interventions, and translational insights that impact modern medicine. The primary focus will be diseases of global concern, including cancer, chronic pain, metabolic disorders, and autoimmune conditions, providing a broad overview of the advancements in ...read more
Approaches to the treatment of chronic inflammation
Chronic inflammation is a hallmark of numerous diseases, significantly impacting global health. Although chronic inflammation is a hot topic, not much has been written about approaches to its treatment. This thematic issue aims to showcase the latest advancements in chronic inflammation treatment and foster discussion on future directions in this ...read more
Cellular and Molecular Mechanisms of Non-Infectious Inflammatory Diseases: Focus on Clinical Implications
The Special Issue covers the results of the studies on cellular and molecular mechanisms of non-infectious inflammatory diseases, in particular, autoimmune rheumatic diseases, atherosclerotic cardiovascular disease and other age-related disorders such as type II diabetes, cancer, neurodegenerative disorders, etc. Review and research articles as well as methodology papers that summarize ...read more
Chalcogen-modified nucleic acid analogues
Chalcogen-modified nucleosides, nucleotides and oligonucleotides have been of great interest to scientific research for many years. The replacement of oxygen in the nucleobase, sugar or phosphate backbone by chalcogen atoms (sulfur, selenium, tellurium) gives these biomolecules unique properties resulting from their altered physical and chemical properties. The continuing interest in ...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
-
Hyperglycemia-induced Oxidative Stress and its Role in Diabetes Mellitus Related Cardiovascular Diseases
Current Pharmaceutical Design In Vivo Application and Tracking of Baculovirus
Current Gene Therapy Central Nervous System Vasculitis: Still More Questions than Answers
Current Neuropharmacology Glucocorticoids: Structure, Signaling and Molecular Mechanisms in the Treatment of Diabetic Retinopathy and Diabetic Macular Edema
Current Molecular Medicine Biochemical Strategies to Anticoagulation: A Comparative Overview
Current Vascular Pharmacology Biologics: An Update and Challenge of Their Pharmacokinetics
Current Drug Metabolism Anti-Angiogenic Treatment for Exudative Age-Related Macular Degeneration: New Strategies are Underway
Current Angiogenesis (Discontinued) Patent Selections:
Recent Patents on Cardiovascular Drug Discovery Purinergic Signalling and Endothelium
Current Vascular Pharmacology Use of Anti-VEGF Drugs in Retinal Vein Occlusions
Current Drug Targets Matrix Metalloproteinases as Potential Targets in the Venous Dilation Associated with Varicose Veins
Current Drug Targets An Updated Review for the Diabetic Wound Healing Systems
Current Drug Targets Gene Therapy for Cardiovascular Diseases
Current Pharmaceutical Design Vascular Damage in Impaired Glucose Tolerance: An Unappreciated Phenomenon?
Current Pharmaceutical Design In Situ Gels Based Drug Delivery Systems
Current Drug Therapy Unusual Clinical Manifestations of the Antiphospholipid Syndrome
Current Rheumatology Reviews Intravitreal Bevacizumab for Diabetic Retinopathy
Current Diabetes Reviews From Proteins to Nucleic Acid-Based Drugs: The Role of Biotech in Anti-VEGF Therapy
Anti-Cancer Agents in Medicinal Chemistry Management of Idiopathic Intracranial Hypertension During the COVID-19 Pandemic
Reviews on Recent Clinical Trials The Valsalva Maneuver and Alzheimers Disease: Is there a link?
Current Alzheimer Research