The role of the microsomal triglygeride transfer protein in abetalipoproteinemia.
The microsomal triglyceride transfer protein (MTP) is a dimeric lipid transfer protein consisting of protein disulfide isomerase and a unique 97-kDa subunit. In vitro, MTP accelerates the transport of triglyceride, cholesteryl ester, and phospholipid between membranes. It was recently demonstrated that abetalipoproteinemia, a hereditary disease characterized as an inability to produce chylomicrons and very low-density lipoproteins in the intestine and liver, respectively, results from mutations in the gene encoding the 97-kDa subunit of the microsomal triglyceride transfer protein. Downstream effects resulting from this defect include malnutrition, very low plasma cholesterol and triglyceride levels, altered lipid and protein compositions of membranes and lipoprotein particles, and vitamin deficiencies. Unless treated, abetalipoproteinemic subjects develop gastrointestinal, neurological, ophthalmological, and hematological abnormalities.
Berriot-Varoqueaux
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N
U327 Institut National de la Santé et de la Recherche Médicale, Faculté de Médecine Xavier Bichat, Université de Paris 7-Denis Diderot, 75870 Paris, France. mesamson@bichat.inserm.fr
Aggerbeck
L P
LP
Samson-Bouma
M
M
Wetterau
J R
JR
D000012:Abetalipoproteinemia / Q000097:blood / Q000235:genetics* / Q000628:therapy; D001055:Apolipoproteins B / Q000172:deficiency; D001361:Avitaminosis; D002352:Carrier Proteins / Q000737:chemistry / Q000235:genetics / Q000502:physiology*; D006801:Humans; D007422:Intestines / Q000473:pathology / Q000503:physiopathology*; D050356:Lipid Metabolism; D008099:Liver / Q000378:metabolism; D008286:Malabsorption Syndromes / Q000150:complications / Q000235:genetics; D008861:Microsomes / Q000502:physiology; D009748:Nutrition Disorders; D014280:Triglycerides / Q000097:blood; D014810:Vitamin E / Q000627:therapeutic use
D001055:Apolipoproteins B; D002352:Carrier Proteins; D014280:Triglycerides; D014810:Vitamin E