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[Tangier disease]

K Saku1, S Jimi, T Ohta

  • 1Department of Internal Medicine, Fukuoka University School of Medicine.

Nihon Rinsho. Japanese Journal of Clinical Medicine
|December 1, 1994
PubMed
Summary
This summary is machine-generated.

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Tangier disease, a rare HDL-deficiency disorder, involves accelerated apo HDL breakdown without altered synthesis. Despite lipid metabolism issues, Tangier disease patients exhibit reduced coronary heart disease risk.

Area of Science:

  • Lipidology
  • Genetics
  • Metabolic Disorders

Context:

  • Tangier disease is a rare genetic disorder characterized by extremely low levels of high-density lipoprotein (HDL).
  • Research has explored various aspects including lipoprotein composition, HDL kinetics, cellular interactions, and genetic analysis.
  • Previous studies indicate an increased fractional catabolic rate of apolipoprotein HDL (apo HDL) with normal synthesis rates.

Purpose:

  • To describe the clinical and biochemical features of Tangier disease.
  • To investigate the underlying mechanisms of HDL deficiency in Tangier disease.
  • To explore potential protective mechanisms against coronary heart disease in affected individuals.

Summary:

  • Tangier disease presents with familial HDL deficiency, abnormal lipid metabolism, and Golgi/lysosome processing defects.

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  • No structural defects in the apo A-I gene have been identified.
  • A key finding is the accelerated catabolism of apo HDL, not reduced synthesis.

    • Impact:

    • Provides a comprehensive overview of Tangier disease characteristics.
    • Highlights the paradox of low HDL levels coexisting with reduced coronary heart disease incidence.
    • Suggests avenues for understanding atheroprotective mechanisms relevant to cardiovascular health.