Cholesterol-processing Enzyme Protects From Debilitating Brain Lesions
Study explains symptoms of a rare genetic disease and has implications for clinical trial
An enzyme that helps break down cholesterol may also be a therapeutic target to stave off neurologic diseases, including Alzheimer’s and a rare genetic disorder, according to a new study. Researchers from Case Western Reserve University School of Medicine, the National Institute of Standards and Technology and Karolinska Institute in Sweden, discovered that a specific enzyme in the brain could reduce the formation of debilitating brain lesions in the two diseases. A clinical trial to test the enzyme’s potential as a therapeutic target is planned for later this year. The targeted enzyme’s primary purpose is to eliminate excess cholesterol from the brain. But the researchers hypothesized it could also help remove another cholesterol-like molecule — cholestanol. Cholestanol is normally found in very low levels in the body, at least 500 times less often than cholesterol but spikes in people with a rare, uncurable genetic disease called cerebrotendinous xanthomatosis. Patients with the disease slowly accumulate cholestanol in areas of the brain responsible for muscle coordination, causing seizures, involuntary movements and cognitive decline. With help from the right enzymes, the debilitating accumulations could be eliminated.
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