Scientists from the University of Bath have identified two regions in mouse brains where the gene that’s implicated in ALS is expressed, giving hope that we’re one step closer to finding new treatments and a possible cure for the disease. There is currently no cure for ALS which is more commonly known as Motor Neurone Disease . This is the first time that these sites for this particular gene, known as C9orf72, have been identified.
Many people who develop ALS and Frontotemporal Dementia have been seen to have abnormal repetitions of nucleotides within this gene, which cause the neurons to die. By using mouse brains, the team from Bath were able to see that this particular gene is most strongly expressed within the hippocampus region. This is the region which contains adult stem cells and which is known to play an important part in memory formation and retention. They also found C9orf72 within the olfactory bulb, which also proved significant, as loss of smell can often be a symptom of Frontotemporal Dementia.
In addition to identifying these two location, the researchers found that as the brain cortex and neurons develop, the C9orf72 protein which is normally concentrated in the cytoplasm of cells starts to become concentrated in the nucleus too. They team were also able to confirm the findings of previous studies which showed that C9orf72 is also found in the brain’s cerebellum and the motor cortex.
However, it’s still unclear why people who carry such an abnormality usually don’t show any symptoms at birth, and why these diseases can take decades to develop. One suggestion is that the activity of the gene during the early years somehow triggers the degeneration of certain types of neurons as they age. Furthermore, the exact function of the C9orf72 gene is still unknown, although it is known that in ALS patients there are mutations with large stretches of abnormal repetitive sequences.
These findings are important as scientists will now be able to use them to inform further studies of animal models of C9orf72 ALS and Frontotemporal Dementia. By being able to recreate more accurate animal models of these diseases, it’s hoped that they’ll eventually be able to develop novel treatments and perhaps even a cure for these devastating diseases.
The results of the Bath University study was published in a recent edition of the online Journal of Anatomy.