The revolutionary role of genetics and risk factors in dementia


Dementia is a disease that impacts many people, specifically their brains.

Brittany Polevikov, Creative Director

Since the discovery of early onset dementia by Alois Alzheimer in the early 20th century, a spotlight has been put on research of neurodegenerative disease. According to the Lawrence Ellison Foundation, these diseases are incurable and affect more than 6.5 million people in the United States alone, with notable focus on the overwhelming presence of Alzheimer’s disease on the global stage. In fact, by 2030, scientists at the Harvard NeuroDiscovery Center predict that as many as 1 in 5 Americans over the age of 65 will suffer from neurodegenerative disease. Some of the greatest challenges faced by researchers in this field include the little knowledge we have regarding the interaction of different parts of the brain in different manifestations of dementia. However, the past few decades of research have isolated certain aggregates of neurodegeneration such as gender, alcohol and drug abuse, and most recently, TBI.

Traumatic Brain injury (TBI) has long been cited as a risk factor for earlier onset of dementia and related neurodegenerative disorders. Much of the literature on the area of Alzheimer’s and TBI study has relied heavily on community-based and population-based studies, as drawing any conclusions about TBI in regards to increased neuropathology is close to impossible when factoring in diagnostic uncertainty surrounding both variables. This is why research that examines the effect TBI has on individual cells and genes simultaneously is so valuable in furthering our understanding of TBI’s biological mechanisms in the brain.

Using a novel method called Drop-seq, researchers at University of California, Los Angeles were able to examine thousands of hippocampal cells and genes in order to pinpoint exactly which ones were damaged by TBI and were in need of therapeutic intervention. One set of experiments looked at TBI and gene expression in individual cells, while another set analyzed specific genes whose activity was found to be increased across animal models’ brains. The former found both upregulation and downregulation depending on the cell type, indicating a more complex relationship between TBI and gene expression. Meanwhile, the latter focused on the activity of the Ttr gene involved in scavenging of amyloid proteins. Though further research must be completed in order to recognize long-term effects of TBI and the genes that are affected, this research most definitely helps paint a more precise picture of TBI’s relationship with dementia.

Dementia and injuries associated with it are especially devastating to families and individuals around the country because it makes people lose who they are; parents forget their children, wives forget their husbands; it is a heartbreaking situation that many people are forced to go through every day. These tragic circumstances make every breakthrough in medical technology even more exciting as further steps towards wiping these terrible conditions from humanity. Hopefully future genetic research can pave even further forward from this revolutionary research of today.