Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia

JR Wetterau, LP Aggerbeck, ME Bouma, C Eisenberg… - Science, 1992 - science.org
JR Wetterau, LP Aggerbeck, ME Bouma, C Eisenberg, A Munck, M Hermier, J Schmitz…
Science, 1992science.org
Abetalipoproteinemia is a human genetic disease that is characterized by a defect in the
assembly or secretion of plasma very low density lipoproteins and chylomicrons. The
microsomal triglyceride transfer protein (MTP), which is located in the lumen of microsomes
isolated from the liver and intestine, has been proposed to function in lipoprotein assembly.
MTP activity and the 88-kilodalton component of MTP were present in intestinal biopsy
samples from eight control individuals but were absent in four abetalipoproteinemic …
Abetalipoproteinemia is a human genetic disease that is characterized by a defect in the assembly or secretion of plasma very low density lipoproteins and chylomicrons. The microsomal triglyceride transfer protein (MTP), which is located in the lumen of microsomes isolated from the liver and intestine, has been proposed to function in lipoprotein assembly. MTP activity and the 88-kilodalton component of MTP were present in intestinal biopsy samples from eight control individuals but were absent in four abetalipoproteinemic subjects. This finding suggests that a defect in MTP is the basis for abetalipoproteinemia and that MTP is indeed required for lipoprotein assembly.
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