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Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia

J R Wetterau1, L P Aggerbeck, M E Bouma

  • 1Department of Metabolic Diseases, Bristol-Myers Squibb, Princeton, NJ 08543-4000.

Science (New York, N.Y.)
|November 6, 1992
PubMed

Insights

Abetalipoproteinemia, a genetic disorder, results from defects in lipoprotein assembly. Researchers found that the microsomal triglyceride transfer protein (MTP) is absent in affected individuals, indicating its crucial role.

Area of Science:

  • Human Genetics
  • Molecular Biology
  • Biochemistry

Background:

  • Abetalipoproteinemia is a rare genetic disorder affecting lipoprotein production.
  • It is characterized by impaired assembly and secretion of very low-density lipoproteins (VLDL) and chylomicrons.

Purpose of the Study:

  • To investigate the role of microsomal triglyceride transfer protein (MTP) in the pathogenesis of abetalipoproteinemia.
  • To determine if MTP deficiency underlies the defect in lipoprotein assembly observed in this disease.

Main Methods:

  • Analysis of MTP activity and protein component in intestinal biopsy samples.
  • Comparison between patients with abetalipoproteinemia and healthy control individuals.

Main Results:

  • Microsomal triglyceride transfer protein (MTP) activity and its 88-kilodalton component were detected in intestinal biopsies from healthy individuals.
  • These MTP components were notably absent in intestinal biopsies from patients with abetalipoproteinemia.

Conclusions:

  • The findings strongly suggest that a defect in MTP is the underlying cause of abetalipoproteinemia.
  • This study confirms the essential role of MTP in the process of lipoprotein assembly and secretion.

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