The genetics of dementia

Area of Science:

• Neurogenetics
• Genomic Medicine

Background:

• Genetic methodologies for disease gene identification have evolved significantly over the past decade.
• Classical linkage analysis, genome-wide association studies (GWAS), and high-throughput sequencing (whole genome and whole exome) are key approaches.
• Genetic factors are increasingly recognized as important contributors to dementia pathogenesis.

Purpose of the Study:

• To review the current understanding of the genetics of Alzheimer's disease (AD).
• To review the current understanding of the genetics of frontotemporal lobar degeneration (FTLD).

Main Methods:

• Review of genetic methodologies including linkage analysis, GWAS, and next-generation sequencing.
• Focus on the application of these methods to neurodegenerative diseases, specifically AD and FTLD.
• Synthesis of current knowledge on causative and susceptibility genes for common dementias.

Main Results:

• Dozens of causative and susceptibility genes for dementias have been identified through advanced genetic studies.
• Genetic studies have solidified the role of genetic factors in the disease processes of AD and FTLD.
• Significant progress has been made in detecting both common and rare genetic variations linked to disease risk.

Conclusions:

• A comprehensive understanding of dementia-related genes is essential for advancing the field.
• The development of genetic testing options for dementias is becoming a reality.
• Future gene-specific therapeutics for dementias are anticipated based on current genetic knowledge.