Specially Designed Mouse Model Improves Research into Neurodegenerative Brain Diseases

A new mouse model that took nearly 4 years to develop will allow researchers to better study the genetic origins and potential treatments for amyotrophic lateral sclerosis (ALS) and frontotemporal dementia.

The mouse model has an expanded mutation in the C9orf72 gene and is able to replicate how the 2 conditions affect nerve cells and pathways in the brain and spinal cord to help better understand the disease triggers.

The study, published in the journal Neuron, described how the mouse model is the first to focus on the C9orf72 gene, known to closely mimic features in ALS and frontotemporal dementia, including paralysis and dementia.

Researchers will be able to study how the same genetic mutation can cause paralysis in some patients and cognitive and behavioral issues in others, or how some people don’t get the disease at all. The model showed an accumulation of problematic RNA and protein clumps thought to help the diseases progress.

The C9orf72 gene produces at least 8 different mutation products, so the mouse model will aid researchers to better understand which ones hold the most importance in causing the disease.

Additionally, researchers may be able to see what takes place in an area of the brain that has healthy cells next to cells that have died.

“I am excited because one of the 2 mutant RNAs produced by the mutation accumulates in neurons that are vulnerable to the disease and die,” said lead study author Yuanjing Liu, PhD. “This gives us an important clue for future studies aimed at developing therapies for people.”