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Cerebrotendinous xanthomatosis.

Ingemar Björkhem1

  • 1Division of Clinical Chemistry, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden. ingemar.bjorkhem@karolinska.se

Current Opinion in Lipidology
|June 14, 2013
PubMed
Summary
This summary is machine-generated.

Cerebrotendinous xanthomatosis (CTX) involves cholesterol buildup due to CYP27A1 gene mutations. Research clarifies cholestanol accumulation mechanisms in the brain, linking it to neurological issues like ALS.

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Area of Science:

  • Neuroscience
  • Genetics
  • Metabolic Disorders

Background:

  • Cerebrotendinous xanthomatosis (CTX) is a rare genetic neurological disorder.
  • It is characterized by cholesterol and cholestanol accumulation in the brain and tendons.
  • Mutations in the sterol 27-hydroxylase gene (CYP27A1) cause CTX.

Purpose of the Study:

  • To clarify the mechanism of cholestanol accumulation in the brain in CTX.
  • To establish the role of 27-hydroxycholesterol in brain cholesterol homeostasis.

Main Methods:

  • Investigated the blood-brain barrier flux of bile acid precursors in cy27-/- mice.
  • Examined the conversion of these precursors into cholestanol.
  • Reviewed clinical presentations of CTX patients, including white matter lesions.

Main Results:

  • Significant flux of 7α-hydroxy-4-cholesten-3-one across the blood-brain barrier in cy27-/- mice was observed.
  • This precursor is converted to cholestanol in the brain.
  • CTX patients exhibit white matter lesions and vacuolation; CYP27A1 is a candidate gene for sporadic ALS.

Conclusions:

  • The mechanism of cholestanol accumulation in CTX is clarified.
  • The reasons for parallel cholesterol accumulation and xanthoma formation require further investigation.
  • The association of CTX with upper motor neuron signs and its potential link to ALS warrants further study.