Abstract
Recent advances in genetics have revolutionized our understanding of dementia. In the most common of the human dementing illnesses-Alzheimer s disease (AD)- mutations in three major genes causing rare dominantly inherited AD (APP, PS1 and PS2), and other contributory genetic risk factors, such as APOE have been identified. Although neurofibrillary tangles composed of tau protein filaments are a diagnostic feature of AD, tau mutations have not been described in AD. Frontotemporal dementia (FTD) encompasses a group of non-Alzheimers degenerative dementias affecting mainly the frontal and temporal neocortex. In contrast to AD, approximately 50PERCENT of FTD cases are inherited and linkage of families with FTD to loci on chromosomes 17 (FTDP-17) and 3 has been demonstrated. Mutations in the microtubule-associated protein tau cause most cases of chromosome 17-linked FTD, demonstrating for the first time that tau dysfunction can play a primary role in neurodegeneration. However, tau mutations have been identified in only 10-20percent of familial FTD cases and have not been demonstrated in sporadic FTD. Thus, the etiology of sporadic FTD remains unknown. Association studies have also suggested a role for tau in progressive supranuclear palsy (PSP), with tau mutations reported in two families, confirming previous pathological evidence of tau abnormalities in PSP. The results of linkage disequilibrium studies between tau and Parkinsons disease (PD), AD and other neurodegenerative disorders are more controversial. In this review, we summarize the relevant genetic aspects of FTD and related neurodegenerative disorders, focusing on studies of linkage analysis and tau mutations.
Keywords: Frontotemporal Dementia, Alzheimers Disease, Parksons disease, Progressive supranuclear palsy PSP, Haman dementing illnesses, Frontotemporal dementia FTD, APOE, Non-Alzheimers Dmentias, FTDP-17
Call for Papers in Thematic Issues
Current Genomics in Cardiovascular Research
Cardiovascular diseases are the main cause of death in the world, in recent years we have had important advances in the interaction between cardiovascular disease and genomics. In this Research Topic, we intend for researchers to present their results with a focus on basic, translational and clinical investigations associated with ...read more
Deep learning in Single Cell Analysis
The field of biology is undergoing a revolution in our ability to study individual cells at the molecular level, and to integrate data from multiple sources and modalities. This has been made possible by advances in technologies for single-cell sequencing, multi-omics profiling, spatial transcriptomics, and high-throughput imaging, as well as ...read more
New insights on Pediatric Tumors and Associated Cancer Predisposition Syndromes
Because of the broad spectrum of children cancer susceptibility, the diagnosis of cancer risk syndromes in children is rarely used in direct cancer treatment. The field of pediatric cancer genetics and genomics will only continue to expand as a result of increasing use of genetic testing tools. It's possible that ...read more
Related Journals
Related Books
Industrial Applications of Soil Microbes
Industrial Applications of Soil Microbes
Algal Biotechnology for Fuel Applications
Omics Technologies for Clinical Diagnosis and Gene Therapy: Medical Applications in Human Genetics
Biopolymers Towards Green and Sustainable Development
Environmental Microbiology: Advanced Research and Multidisciplinary Applications
Biomarkers in Medicine
Industrial Applications of Soil Microbes
Sustainable Utilization of Fungi in Agriculture and Industry
Myconanotechnology: Green Chemistry for Sustainable Development
1