Abetalipoproteinemia is caused by a mutation in which gene and results in absence of B-100 and B-48?

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Multiple Choice

Abetalipoproteinemia is caused by a mutation in which gene and results in absence of B-100 and B-48?

Explanation:
Abetalipoproteinemia occurs when the microsomal triglyceride transfer protein (MTP) cannot function due to mutations in the MTTP gene. MTP is essential for transferring triglycerides onto apolipoprotein B during the assembly of lipoproteins in both enterocytes and hepatocytes. Without MTP, apoB-containing lipoproteins cannot form, so chylomicrons (carrying B-48) and VLDL/LDL (carrying B-100) are not secreted, leading to the absence of B-48 and B-100 in the plasma. The other genes don’t produce this complete lack: ABCA1 relates to HDL formation, LDLR mutations affect LDL clearance, and APOB mutations can cause low or defective apoB but not the global absence of both B-48 and B-100 seen in abetalipoproteinemia.

Abetalipoproteinemia occurs when the microsomal triglyceride transfer protein (MTP) cannot function due to mutations in the MTTP gene. MTP is essential for transferring triglycerides onto apolipoprotein B during the assembly of lipoproteins in both enterocytes and hepatocytes. Without MTP, apoB-containing lipoproteins cannot form, so chylomicrons (carrying B-48) and VLDL/LDL (carrying B-100) are not secreted, leading to the absence of B-48 and B-100 in the plasma. The other genes don’t produce this complete lack: ABCA1 relates to HDL formation, LDLR mutations affect LDL clearance, and APOB mutations can cause low or defective apoB but not the global absence of both B-48 and B-100 seen in abetalipoproteinemia.

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