For the first time, scientists will be able to test therapeutics for a group of rare neurodegenerative diseases that affect infants and young children thanks to a new research model created by scientists at the University of Wisconsin-Madison.
Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative diseases caused by genetic mutations. They lead tens of thousands of children to develop increased muscle tone in their lower extremities, causing weakness in their legs and ultimately affecting their ability to crawl or walk.
“Kids as early as six months of age that have these mutations start to show signs of disease,” says Anjon Audhya, a professor in the Department of Biomolecular Chemistry at UW-Madison. “Between two and five years of age, these kids become wheelchair-bound, and they unfortunately will never be able to walk.”
Audhya explains that many scientists haven’t researched spastic paraplegias because there hasn’t been a good model to study the disease’s origins or test therapeutics. Previous mouse models haven’t worked because the neuronal pathways that carry movement-related information throughout the body appear to be too different from those in humans, and researchers have not yet pursued human clinical trials.
Audhya worked with an interdisciplinary team of UW-Madison researchers to study a specific mutation that causes HSP in young children. They then used what they learned to create a better model — in rats.
The mutation the researchers chose works on a protein called Trk-fused gene, or TFG. Healthy TFG proteins work inside nerve cells, or neurons, to carry other proteins from one part of the cell to another. A neuron’s job is to carry messages in the form of electrical signals between the brain and rest of the body.
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