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Cholestanol, 7-Dehydrocholesterol in Plasma, Serum GC-MS Analysis Kit

The complex cholesterol biosynthesis pathway involves various enzymes and complex cellular mechanisms of intracellular sorting and transport. The deficiency of these enzymes causes the accumulation of specific intermediates and inhibits the formation of important biomolecules.

The Smith–Lemli–Opitz Syndrome (SLOS) is an autosomal recessive multiple malformation syndrome, due to an inborn error of cholesterol synthesis. The SLOS is caused by deficiency of sterol delta-7- reductase (DHCR7) that catalyzes the last step of cholesterol biosynthesis, resulting in low cholesterol and increased 7- and 8-dehydrocholesterol (7-DHC, 8-DHC) plasma levels.

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal-recessive inborn disorder of bile acid metabolism caused by mutations CYP27A1 gene. The mutations result in production of a defective sterol 27-hydroxylase enzyme. The clinical manifestations are progressive cerebellar ataxia, chronic diarrhea, bilateral cataracts, dementia, cataract, and tendon xanthomas. CTX is associated with abnormally high levels of cholestanol in the plasma and accumulation of cholestanol and cholesterol in tissues.

  • Highlights

    Simultaneously quantification of cholestanol and 7-DHC

    Consuming small volume of patient’s sample

    Total run time 12.5 min.

    Long life span of GC column
  • Parameters

    Cholestanol, 7-DHC, Cholesterol
  • Matrix

Sample Preparation

  • Step 1
    Take 100 μl serum/plasma sample into a screw cap glass tube
  • Step 2
    Add 50 µL of IS solution and 500 µL of Reagent-1. Immediately close cap of tubes and vortex 15 sec.
  • Step 3
    İncubate in the dark at 60 min. 70°C in the dark
  • Step 4
    The samples are cooled under water to reach room conditions, add 500 µL of deionized water
  • Step 5
    Extracted 1500 µl Reagent-2, vortex 15 sec. Then centrifuge at 3500 rpm 5 min.
  • Step 6
    Transfer the upper phase layer to a new screw cap glass tube. Dry under a stream of nitrogen
  • Step 7
    The tube is closed by adding 25 µl Reagent-3 and 25 µl Reagent-4
  • Step 8
    Incubate at 60 min. 70°C
  • Step 9
    Transfer the final solution into the insert of HPLC vials
  • Chromatogram

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