Cholestanol
A detailed overview of cholestanol, its role in human health, and its clinical significance
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| Chemical formula | C27H48NO1 |
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Cholestanol is a derivative of cholesterol, a type of sterol that is found in the human body. It is a saturated analog of cholesterol, meaning it lacks the double bond present in cholesterol's structure. Cholestanol is primarily found in the blood and tissues of humans and other animals.
Biological Role[edit | edit source]
Cholestanol is a minor component of the total sterol content in the human body. It is formed from cholesterol through a reduction process. While cholesterol is a crucial component of cell membranes and a precursor for the synthesis of steroid hormones, bile acids, and vitamin D, cholestanol does not have these functions. Instead, it is often considered a byproduct of cholesterol metabolism.
Clinical Significance[edit | edit source]
Cholestanol levels in the body are typically low, but they can become elevated in certain medical conditions. One such condition is cerebrotendinous xanthomatosis (CTX), a rare genetic disorder characterized by the accumulation of cholestanol in various tissues, including the brain and tendons. This accumulation can lead to neurological symptoms, cataracts, and tendon xanthomas.
In CTX, the enzyme sterol 27-hydroxylase is deficient, leading to impaired bile acid synthesis and the accumulation of cholestanol and cholesterol. Diagnosis of CTX often involves measuring cholestanol levels in the blood, which are significantly elevated in affected individuals.
Measurement and Diagnosis[edit | edit source]
Cholestanol levels can be measured using gas chromatography-mass spectrometry (GC-MS) or liquid chromatography-tandem mass spectrometry (LC-MS/MS). These methods allow for the precise quantification of cholestanol in biological samples, aiding in the diagnosis of disorders like CTX.
Treatment[edit | edit source]
For conditions like cerebrotendinous xanthomatosis, treatment may involve the use of chenodeoxycholic acid, which helps to normalize bile acid synthesis and reduce cholestanol levels. Early diagnosis and treatment are crucial to prevent the progression of symptoms.
Also see[edit | edit source]
Template:Cholesterol metabolism
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