Neurodegenerative diseases have long been a mystery to researchers, with their exact causes and mechanisms largely unknown. However, a groundbreaking new study from King’s College London has shed light on a potential connection between ancient viral DNA embedded in our genomes and the genetic risk for two major diseases that affect the central nervous system: multiple sclerosis and amyotrophic lateral sclerosis (ALS).
The study, conducted by a team of researchers from King’s College London and Northwell Health, focused on human endogenous retroviruses (HERVs) — remnants of ancient retroviral infections that are now permanent features within our DNA. Using advanced genomic techniques, the researchers identified specific HERV expression signatures that are linked to the risk of developing multiple sclerosis and ALS. These findings suggest that viral elements within our DNA may play a role in the pathogenesis of these debilitating neurodegenerative diseases.
Multiple sclerosis is a common neurodegenerative disease that affects over 150,000 people in the UK. It is characterized by the progressive degeneration and loss of neurons, leading to a range of symptoms that can significantly impact a patient’s quality of life. ALS, on the other hand, is less common but more severe, with approximately 5,000 cases in the UK and a poor prognosis for those affected.
Published in the prestigious journal Brain, Behavior, and Immunity, this study represents a major advance in our understanding of the genetic underpinnings of neurodegenerative diseases. While previous research hinted at a possible link between HERVs and these conditions, this study is among the first to pinpoint specific HERVs that are associated with disease susceptibility.
“Our findings provide compelling evidence that certain viral sequences within our genome contribute to the risk of developing neurodegenerative diseases,” said Dr. Rodrigo R. R. Duarte, co-lead author of the study and Research Fellow at the Institute of Psychiatry, Psychology, and Neuroscience (IoPPN) at King’s College London. “These sequences are not just relics of ancient viral infections — they are actively influencing brain function in ways that we are only beginning to grasp.”
The researchers analyzed data from hundreds of brain samples to uncover the relationship between HERV expression and genetic risk factors for various neurodegenerative diseases, including Parkinson’s disease, Alzheimer’s disease, ALS, and multiple sclerosis. They identified a strong HERV signature on chromosome 12q14 associated with ALS, and another on chromosome 1p36 associated with multiple sclerosis. These viral sequences appear to be involved in cell adhesion, a crucial process for cellular communication in the brain. While no significant HERV signatures were observed for Alzheimer’s and Parkinson’s disease in this study, the authors suggest that larger studies may reveal new associations in the future.
With the global burden of neurodegenerative diseases on the rise and projected to nearly triple by 2050, these insights offer a promising direction for future research and treatment development. This discovery opens up exciting possibilities for therapeutic interventions targeting HERVs. By unraveling how these viral elements contribute to disease development, researchers hope to pave the way for novel treatments that could mitigate the impact of neurodegenerative diseases.
“By leveraging large genetic datasets and a novel analysis pipeline, this study is well-positioned to identify specific HERVs that play a key role in increasing susceptibility to neurodegenerative diseases,” said Dr. Timothy R. Powell, co-lead author and Senior Lecturer in Translational Genetics & Neuroscience at King’s IoPPN. “Our next challenge is to further investigate how these HERVs influence brain function and whether targeting them could offer new therapeutic avenues.”
This groundbreaking research was made possible in part by funding from the National Institute for Health and Care Excellence (NIHR) Maudsley Biomedical Research Centre, the National Institutes of Health (NIH), and The Psychiatry Research Trust. As we continue to unravel the complexities of neurodegenerative diseases, studies like this one offer hope for a better understanding of these conditions and the development of effective treatments to improve the lives of those affected.
