Newly identified rare Alzheimer's disease gene mutation

Based on Johanna Jakobsdottir’s study in 2016, scientists are now aware that people with Icelandic heritage are more likely to carry a rare mutation of the TM2D3 gene. This mutation significantly increases the chances for the development of Alzheimer’s Disease. Even though this disease is the most common form of dementia, scientists still find it difficult to discover the rare mutations of this gene. It has been easy to find these mutations in isolated families, but not in a population. The TM2D3 mutation is about ten times more common in Icelanders, but is still only found in about 1% of the Icelandic population. After performing experiments in fruit flies, researchers have observed that this gene mutation affects the Notch signaling pathway. Researchers still need to perform more experiments to identify any other genetic mutations and their effects on gene expression for this disease.

I was surprised to learn that researchers for Alzheimer’s disease find it difficult to isolate gene mutations in a population as opposed to isolated families. I just assumed that the researchers were far enough into their experiments to fully understand how to identify these mutations in an entire population. I wish that this article went more into detail as to why people with Icelandic heritage are more likely to have these mutations. If they were able to explain why Icelanders have a higher risk for this mutation, it could possibly lead to more discoveries about other diseases that this heritage is more susceptible to.