Many people who develop Motor Neuron Disease, also called ALS and FTD, have abnormal repeats of nucleotides within a gene called C9orf72, which causes neurons to die. For the first time ever, a team from the Department of Biology & Biochemistry at the University of Bath in the UK discovered that this gene is strongly expressed in the hippocampus (a region known to be important for memory and where adult stem cells reside) of the mouse brain. C9orf72 is also expressed at the olfactory bulb, which is involved in the sense of smell (a loss of smell is sometimes a symptom of ALS).
The researchers also found that C9orf72 protein changes from being concentrated in the cytoplasm of cells to both the nucleus and cytoplasm as the brain cortex develops, as well as during the development of neurons. Through uncovering novel sites of expression in the brain, the findings of the researchers provide an important resource for researchers who study animal models of C9orf72 mediated ALS and FTD. They hope that accurate animal models of these diseases will allow scientists to develop new treatments and eventually cures for these diseases.
The researchers had been working to map the expression of C9orf72 in mouse brains to help characterize reliable animal models so they could study the gene and its effects in both kinds of neurodegenerative diseases. As of yet, it’s unclear why people who carry an abnormality in this kind of genes don’t typically develop systems of these diseases for several decades. Yet it’s possible that the activity of the gene early on in life somehow preps certain types of neuron to degenerate later in life.
Despite this progress, the exact function of C9orf72 in animals and humans remains unknown, but in the mutated version in patients there are large stretches of abnormal repeated sequences.
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