Genetic Mutation May Play a Role in Frontotemporal Dementia

May 2, 2016

Frontotemporal dementia, one of the less well-known forms of dementia among the public, comes about when there is cell degeneration in the frontal lobes of the brain. This is the part of the brain that is involved in such areas as speech and speech understanding, emotions, planning, and some movements. It’s estimated that between 10% and 15% of all dementia cases can be classified as frontotemporal dementia.

The exact cause of frontotemporal dementia is not known, although it is understood that the development of certain proteins in brain cells is involved in the process. Now scientists working at the University of Cologne in Germany believe that they have identified a genetic mutation that may play a role in the disorder.

Fruit Flies

The research was conducted using fruit flies. The flies were given a “flawed” gene that contained both proteins and RNA. This essentially caused nerve damage that mimics that which is typically found in frontotemporal dementia. Scientists were then able to determine whether it was the protein or the RNA that was causing the nerve damage.

First, they isolated the RNA and observed the effects of just the RNA; then they repeated with only the protein present. Finally they observed how the two worked in tandem.

Results

When they studied the results, it appeared that the RNA by itself did not create damage, but that both the protein by itself and the protein combined with the RNA did. This further strengthens the belief that toxic proteins are responsible for many of the issues involved in the disorder.

When the scientists investigated further, they determined that the proteins that were causing harm were those that contained a particular ingredient known as arginine.

Because this is an early study in an animal model, there is need for further study in this area; however, if future investigations confirm that arginine is playing a role in frontotemporal dementia, it could give scientists a path to follow in developing drugs to treat it.

Effective drug treatment of this type is still in the future; however, these developments do demonstrate progress and give hope that effective treatments will be found.

Jason Sager

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