Imagine trying to solve a puzzle, but only having a handful of the pieces. That’s what scientists studying Alzheimer’s disease have been up against. While they have discovered many small genetic variations associated with the disease, these only account for a fraction of its genetic basis. It turns out that the missing pieces may be hiding in something called structural variations (SVs). SVs are like the larger, more elusive puzzle pieces that can provide crucial context and understanding. However, detecting SVs accurately has proven challenging using current technology. In this article, we delve into the strengths and weaknesses of different methods for identifying SVs and explore the landscape of SV analysis in Alzheimer’s disease. We also shine a spotlight on some lesser-known types of SVs, such as insertions, inversions, short tandem repeats, and transposable elements, which could hold important clues to neurodegenerative diseases. To unlock the secrets of Alzheimer’s genetics, dive into the fascinating research behind this article!
Dozens of single nucleotide polymorphisms (SNPs) related to Alzheimer’s disease (AD) have been discovered by large scale genome-wide association studies (GWASs). However, only a small portion of the genetic component of AD can be explained by SNPs observed from GWAS. Structural variation (SV) can be a major contributor to the missing heritability of AD; while SV in AD remains largely unexplored as the accurate detection of SVs from the widely used array-based and short-read technology are still far from perfect. Here, we briefly summarized the strengths and weaknesses of available SV detection methods. We reviewed the current landscape of SV analysis in AD and SVs that have been found associated with AD. Particularly, the importance of currently less explored SVs, including insertions, inversions, short tandem repeats, and transposable elements in neurodegenerative diseases were highlighted.
Dr. David Lowemann, M.Sc, Ph.D., is a co-founder of the Institute for the Future of Human Potential, where he leads the charge in pioneering Self-Enhancement Science for the Success of Society. With a keen interest in exploring the untapped potential of the human mind, Dr. Lowemann has dedicated his career to pushing the boundaries of human capabilities and understanding.
Armed with a Master of Science degree and a Ph.D. in his field, Dr. Lowemann has consistently been at the forefront of research and innovation, delving into ways to optimize human performance, cognition, and overall well-being. His work at the Institute revolves around a profound commitment to harnessing cutting-edge science and technology to help individuals lead more fulfilling and intelligent lives.
Dr. Lowemann’s influence extends to the educational platform BetterSmarter.me, where he shares his insights, findings, and personal development strategies with a broader audience. His ongoing mission is shaping the way we perceive and leverage the vast capacities of the human mind, offering invaluable contributions to society’s overall success and collective well-being.