Scientists have discovered a potential genetic link to Alzheimer’s disease which could revolutionise how the condition is treated, diagnosed and prevented
Seven new genetic discoveries could “revolutionise” our understanding of Alzheimer’s disease. The research focused specifically on the X-chromosome, which is present in nearly all humans except those with chromosomal disorders like Turner Syndrome.
The study, published in Molecular Psychiatry, identified seven loci, specific sites on the human genome, where variants could indicate a person’s risk of developing Alzheimer’s disease. However, the scientists were left somewhat disappointed as they had hoped to find a clear genetic link across the chromosome that would impact Alzheimer’s disease.
Instead, they discovered “suggestive signals” from these seven specific areas, four of which were common in Alzheimer’s cases while three were more rare. These could hold the key to fully understanding the genetic makeup of Alzheimer’s disease, when it starts and how to intervene more effectively.
However, further research is needed to investigate these seven areas more thoroughly before any changes can be made for current Alzheimer’s patients. This groundbreaking study has been highlighted as the most comprehensive study on the X-chromosome and its links to the neurodegenerative condition.
The genetic link to Alzheimer’s has been well-established in the medical world for years, but scientists have shied away from exploring its connections with the X chromosome due to the intense methodology required for such an in-depth study of this complex chromosome. This is despite the fact that variations on more than 15% of known genes related to intellectual disabilities are associated with this chromosome.
Unlike these other intellectual disabilities, which are thought to begin in the early stages of development when the chromosome is first activated, Alzheimer’s only manifests itself many decades later. One of the most consistent sites in the study has already been linked to a gene associated with difficulties in higher education.
The researchers speculated that this could mean the variant and site in the genome could be linked to cognitive decline and lower cognitive reserve overall. Consequently, this new connection could change our understanding of the X chromosome itself, as it could also be affecting brain resilience and cognitive reserves much later in life than previously believed.