Abstract
Recent studies have shown that the translocase of outer mitochondrial membrane 40 homolog (TOMM40) contains a polymorphic poly-T variant, the long variant of which is associated with an increase in AD incidence among APOE ε3 carriers. Current methods to isotype the poly-T region rely on long PCR, subcloning and sequencing to distinguish among the allelic variants. While such methods are extremely accurate as well as quantitative in determining the number of T residues in the poly-T region, the process can be cumbersome, time consuming and expensive to employ in routine laboratories. To this end, we have developed a quick and simple method to isotype the human TOMM40 variablelength polymorphism using a PCR- and restriction digest-based approach, enabling rapid genotyping of TOMM40 variants.
Keywords: TOMM40, APOE, Alzheimer’s, genotyping, poly-T, RFLP, phosphorylated tau, hippocampal brain tissue, cerebellum
Current Alzheimer Research
Title:Isotyping the Human TOMM40 Variable-Length Polymorphism by Gene Amplification and Restriction Digest
Volume: 9 Issue: 10
Author(s): Steven J. Greco, Ashkan Hamzelou, Jane M. Johnston, Sandy Richardson, Mark A. Smith, George Perry, J. Wesson Ashford and Nikolaos Tezapsidis
Affiliation:
Keywords: TOMM40, APOE, Alzheimer’s, genotyping, poly-T, RFLP, phosphorylated tau, hippocampal brain tissue, cerebellum
Abstract: Recent studies have shown that the translocase of outer mitochondrial membrane 40 homolog (TOMM40) contains a polymorphic poly-T variant, the long variant of which is associated with an increase in AD incidence among APOE ε3 carriers. Current methods to isotype the poly-T region rely on long PCR, subcloning and sequencing to distinguish among the allelic variants. While such methods are extremely accurate as well as quantitative in determining the number of T residues in the poly-T region, the process can be cumbersome, time consuming and expensive to employ in routine laboratories. To this end, we have developed a quick and simple method to isotype the human TOMM40 variablelength polymorphism using a PCR- and restriction digest-based approach, enabling rapid genotyping of TOMM40 variants.
Export Options
About this article
Cite this article as:
J. Greco Steven, Hamzelou Ashkan, M. Johnston Jane, Richardson Sandy, A. Smith Mark, Perry George, Wesson Ashford J. and Tezapsidis Nikolaos, Isotyping the Human TOMM40 Variable-Length Polymorphism by Gene Amplification and Restriction Digest, Current Alzheimer Research 2012; 9 (10) . https://dx.doi.org/10.2174/156720512804142921
DOI https://dx.doi.org/10.2174/156720512804142921 |
Print ISSN 1567-2050 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5828 |
Call for Papers in Thematic Issues
New Advances in the Prevention, Diagnosis, Treatment, and Rehabilitation of Alzheimer's Disease
Aims and Scope: Introduction: Alzheimer's disease (AD) poses a significant global health challenge, with an increasing prevalence that demands concerted efforts to advance our understanding and strategies for prevention, diagnosis, treatment, and rehabilitation. This thematic issue aims to bring together cutting-edge research and innovative approaches from multidisciplinary perspectives to address ...read more
Current updates on the Role of Neuroinflammation in Neurodegenerative Disorders
Neuroinflammation is an invariable hallmark of chronic and acute neurodegenerative disorders and has long been considered a potential drug target for Alzheimer?s disease (AD) and dementia. Significant evidence of inflammatory processes as a feature of AD is provided by the presence of inflammatory markers in plasma, CSF and postmortem brain ...read more
Deep Learning for Advancing Alzheimer's Disease Research
Alzheimer's disease (AD) poses a significant global health challenge, with an increasing number of individuals affected yearly. Deep learning, a subfield of artificial intelligence, has shown immense potential in various domains, including healthcare. This thematic issue of Current Alzheimer Research explores the application of deep learning techniques in advancing our ...read more
Diagnostic and therapeutic biomarkers of dementia
Dementia affects 18 million people worldwide. Dementia is a syndrome of symptoms caused by brain disease, usually chronic or progressive, clinically characterized by multiple impairments of higher cortical functions such as memory, thinking, orientation, and learning. In addition, in the course of dementia, cognitive deficits are observed, which often hinder ...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
-
Variation of Antioxidant Capacity in Different Layers of Onion (Allium cepa L.) At Two Different Stages of Maturation
Current Nutrition & Food Science Chinese Medicine in Inhalation Therapy: A Review of Clinical Application and Formulation Development
Current Pharmaceutical Design The Application of Mass Spectrometry to Proteomics and Metabolomics in Biomarker Discovery and Drug Development
Current Molecular Pharmacology Patent Selections
Recent Patents on Cardiovascular Drug Discovery Gene-Activators Prevent and Regress Atherosclerosis and Reduce Mortality
Cardiovascular & Hematological Agents in Medicinal Chemistry The Pathophysiology of Sleep Apnoea: What We have Learned from Animal Models of Chronic Intermittent Hypoxia
Current Respiratory Medicine Reviews Sequence and Structural Elements in the Mechanism of Function of Rhodopsin-Like Family of G Protein-Coupled-Receptors
Recent Patents on Endocrine, Metabolic & Immune Drug Discovery Management of Obesity in Patients with Type 2 Diabetes Mellitus
Current Diabetes Reviews Intracranial MR Dynamics in Clinically Diagnosed Alzheimers Disease: The Emerging Concept of “Pulse Wave Encephalopathy”
Current Alzheimer Research Miracles of Herbal Phytomedicines in Treatment of Skin Disorders: Natural Healthcare Perspective
Infectious Disorders - Drug Targets It’s Time for An Epigenomics Roadmap of Heart Failure
Current Genomics Oxidative Stress and Neurodegenerative Diseases: A Review of Upstream and Downstream Antioxidant Therapeutic Options
Current Neuropharmacology The Janus Face of Adenosine: Antiarrhythmic and Proarrhythmic Actions
Current Pharmaceutical Design PPARγ Agonists: Beneficial Effect on Blood Pressure Beyond Glycemic Control?
Current Hypertension Reviews Impact of Patient Knowledge of Hypertension Complications on Adherence to Antihypertensive Therapy
Current Hypertension Reviews Hypoxia-Inducible Factor-1 in Arterial Disease: A Putative Therapeutic Target
Current Vascular Pharmacology Role of Endothelial Progenitor Cell Mobilization After Percutaneous Angioplasty Procedure
Current Pharmaceutical Design Human Pharmacogenetics in the Zanzibar Islands – The Beginning of the CYP2C8 Story in the Malaria World
Current Pharmacogenomics and Personalized Medicine p38 MAP Kinase Mediated Proteoglycan Synthesis as a Target for the Prevention of Atherosclerosis
Cardiovascular & Hematological Disorders-Drug Targets Early Life Programming of Obesity: The Impact of the Perinatal Environment on the Development of Obesity and Metabolic Dysfunction in the Offspring.
Current Diabetes Reviews