Abetalipoproteinemia results from mutations in the gene encoding the 97-kDa subunit of the microsomal triglyceride transfer protein, leading to severe lipid transport defects and clinical abnormalities.
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 et al. (Sat,) conducted a review in Abetalipoproteinemia. Mutations in the gene encoding the 97-kDa subunit of the microsomal triglyceride transfer protein was evaluated. Abetalipoproteinemia results from mutations in the gene encoding the 97-kDa subunit of the microsomal triglyceride transfer protein, leading to severe lipid transport defects and clinical abnormalities.
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