Cholesterol-processing enzyme protects from debilitating brain lesions
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. "We found that an enzyme called CYP46A1 not only eliminates cholesterol but also cholestanol from the brain," said Irina Pikuleva, PhD, study lead and Professor and Vice Chair of Research in the Department of Ophthalmology and Visual Sciences at Case Western Reserve University School of Medicine. "CYP46...