A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
CHOLESTANOL
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Call Carrie x4171 or Amber x4173
Call Carrie x4171 or Amber x4173
Test Code
LAB00876
Alias/See Also
LAB00876
CPT Codes
82542
Preferred Specimen
1.0 mL Lavender (EDTA) - plasma
Minimum Volume
0.5 mL Lavender (EDTA) plasma
Other Acceptable Specimens
Dark Green Top (Sodium Heparin) - plasma
Transport Temperature
Frozen
Specimen Stability
Frozen: 2 Months
Clinical Significance
Cholestanol, not cholesterol, is a minor component in the human body and in foods, but an increase in cholestanol concentration in serum induces a pathological condition named cerebrotendinous xanthomatosis (CTX). In our investigation of this disease for more than 25 years, a procedure for quantification of cholestanol by high-performance liquid chromatography and an assay method for sterol 27-hydroxylase were established, and several mutations of the CYP 27 gene in 10 CTX families were identified. We also established experimental animal models with symptoms of CTX by feeding a high cholestanol diet. Corneal dystrophy and gallstones were produced in mice, and an apoptosis of cerebellar neuronal cells was observed in rats. We propose the following underlying mechanism of CTX pathogenesis: When cholesterol in the plasma membrane is replaced by cholestanol to some extent, the membrane fluidity is reduced, and the calcium channel fails to open, inducing cell death. CTX patients are treated with oral administration of chenodeoxycholic acid, which reduces the cholestanol concentration in serum. Cholestanol has a toxic effect, and an imbalance of the cholesterol/cholestanol ratio in plasma membrane is suspected to cause the disturbance of calcium channel function of the membrane.
Performing Laboratory
Send to Quest Diagnostics, they will send onto Kennedy Krieger Genetics Lab