Why do people with inherited forms of Alzheimer’s experience the disease differently?
A researcher from the University College London is investigating the effects of faulty genes that cause a rare inherited form of Alzheimer's
Several hundred families across the world are affected by inherited forms of Alzheimer’s. These cases of the disease are caused by faulty genes that pass down blood lines within families, meaning multiple family members are guaranteed to develop the disease and often in their 30s, 40s and 50s. These rare but devastating inherited forms of Alzheimer’s have a clear genetic cause. But despite this, they still affect people in a variety of different ways and researchers need to understand why. The team is exploring what changes take place in the brains of people affected by these forms of Alzheimer’s and what that can tell us about how the disease develops and what drives it to affect people in the way it does.
By studying the changes that take place in inherited forms of Alzheimer’s, the team will look for opportunities where future treatment approaches may be targeted differently for different people. They’ll also use their insights to gain a broader picture of the damaging processes in the brain in Alzheimer’s more generally, which should help progress research into typical non-genetic forms of Alzheimer’s too. This project is a unique opportunity to create a detailed map of what happens to people with this rare and devastating type of Alzheimer’s – a research opportunity that we just cannot afford to miss.
The researchers in this study have unique access to 38 donated brain samples from people who have died from inherited forms of Alzheimer’s and donated their brains to help research. They will carry out detailed assessments of the damage in the brain in each person, including the amount of key hallmark proteins in the brain and the damage to nerve cells. They will look at levels of inflammation in the brian and damage to blood vessels using different fluorescent tags that they can study under the microscope. They will look at how these changes relate to different symptoms experienced by the individuals during their lives, as well as more detailed molecular changese in the brain and their genetic make-up. They will also use Nobel prize-winning stem cell techniques to grow nerve cells in the laboratory from skin cells taken from patients with inherited Alzheimer’s. They will use these cells to study some of the damaging changes in the laboratory in real time, translating their observations from brain tissue into living cells in the dish.
Dr Tammaryn Lashley
University College London
1 June 2016 - 1 June 2019
Full project name
Deciphering pathological heterogeneity in familial Alzheimer’s disease