NUS1 Research Highlights
NUS1 Research has already begun and even features some of our NUS1 Warriors!
NUS1 Warrior, Chloe Murphy, featured in Greenwood Genetic's Research
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“Zebrafish that mimic Chloe’s NUS1 variant not only exhibited a movement disorder as seen through abnormal swimming patterns, but they also displayed significant accumulation of cholesterol in their lysosomes,” said Flanagan-Steet.
The research team at Greenwood Genetic Center is looking to refine how the storage of cholesterol in the lysosomes occurs in patients with NUS1 mutations and why it leads to the neurological symptoms and movement disorders.
Lysosome Disorder Research includes NUS1 as a Lysosome Disorder
What are Lysosomes and Why do they Matter?
"Lysosomes (LSDs) are often described as the recycling centers of the cell. They are membrane bound structures within each cell containing digestive enzymes that, among other functions, break down waste products. When those enzymes are not produced due to a genetic mutation, or when the broken down molecules can’t get out of the lysosome, this leads to storage of harmful substances inside the lysosome leading to the aptly named, lysosomal storage disorders."
Why NUS1 Research Uses Zebrafish??
“Studying how NUS1 variants affected the zebrafish provided powerful information, confirming that these variants in our patients were indeed the cause of their symptoms and allowing us to better understand how these variants cause disease.” said Heather Flanagan-Steet, PhD, Director of Functional Studies and Director of the Hazel and Bill Allin Aquaculture Facility at GGC. “