[Microsomal triglyceride transfer protein and abetalipoproteinemia].
Microsomal triglyceride transfer protein (MTP) is a dimeric protein complex consisting of protein disulfide isomerase and a unique 97 kDa subunit. In vitro, MTP accelerates the transport of triglyceride, cholesteryl ester, and phospholipid between vesicles. It was recently demonstrated that abetalipoproteinemia, a disease characterized as an inability to produce chylomicrons and very low density lipoproteins in the intestine and liver, respectively, is the result of a genetic absence of MTP. Downstream effects resulting from this defect, include very low plasma cholesterol and triglyceride levels, absence of plasma apolipoprotein B and a lipid malabsorption syndrome, leading to lipo-soluble vitamin deficiencies. A low fat diet is instituted to eliminate the diarrhea. In addition, a therapy with vitamins A and E is essential to prevent patients from developing secondary effects such as neuropathy, muscle weakness, and retinopathy.
Berriot-Varoqueaux
N
N
INSERM U. 327, Faculté de Médecine Xavier Bichat, Université de Paris 7-Denis Diderot, BP 416, 75870 Paris Cedex 18, France.
Aggerbeck
L P
LP
Samson-Bouma
M
M
D000012:Abetalipoproteinemia / Q000097:blood / Q000235:genetics* / Q000628:therapy; D001055:Apolipoproteins B / Q000172:deficiency; D001361:Avitaminosis / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics*; D002784:Cholesterol / Q000097:blood; D018752:Diet, Fat-Restricted; D006801:Humans; D007422:Intestines / Q000648:ultrastructure; D050356:Lipid Metabolism; D008286:Malabsorption Syndromes / Q000150:complications / Q000235:genetics / Q000473:pathology; D014280:Triglycerides / Q000097:blood; D014801:Vitamin A / Q000627:therapeutic use; D014810:Vitamin E / Q000627:therapeutic use
D001055:Apolipoproteins B; D002352:Carrier Proteins; D014280:Triglycerides; C106092:microsomal triglyceride transfer protein; D014801:Vitamin A; D014810:Vitamin E; D002784:Cholesterol