Amyotrophic lateral sclerosis (ALS) is a type of MND, which stop signals from the brain reaching the muscles, resulting in a progressive loss of all muscle functions. Many patients also show signs of cognitive problems, which in around 20-50% of cases fulfil the diagnostic criteria of a type of dementia; frontotemporal dementia (FTD).
In 2011 mistakes (mutations) in a gene called Ubiquilin-2 were found to cause ALS/FTD, but it was not known how or why these mistakes lead to disease. Dr Kurz has recently discovered that mutation to this gene means that material that normally would be removed from the cell (“garbage disposal”) accumulates and forms clumps, which eventually leads to cell death.
Along with this discovery, researchers have also made several interesting preliminary observations, which likely contribute to the development of ALS.
The research team found that mutated Ubiquilin-2 genes interact differently with two other proteins (Bag6 and Trim32). These proteins are also involved in the cell’s “garbage disposal” process and these changes in interaction are likely to be important.
Researchers also found that mutated Ubiquilin-2 genes behave differently in a certain region of the brain.
The aims of this project are:
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Project title: Defining the molecular functions of the ALS/MND gene Ubiquilin-2 (UBQLN). Please see MND Scotland's Animal Testing Policy.
Dr. Thimo Kurz