Key result
A novel truncated apolipoprotein B, apo B-76, was identified in a 43-year-old Japanese man with familial hypobetalipoproteinemia and an apo E2/E2 phenotype, who exhibited near-normal postprandial lipid metabolism.
Why the study?
Does the presence of truncated apo B-76 affect postprandial lipid metabolism in a patient with apo E2/E2 phenotype?
Case Report (n=1)
Does the presence of truncated apo B-76 affect postprandial lipid metabolism in a patient with apo E2/E2 phenotype?
A novel apo B truncation (apo B-76) in a patient with apo E2/E2 homozygosity was associated with near-normal postprandial lipid metabolism despite obesity and the E2/E2 phenotype.
Apo B-76 was associated with near-normal postprandial metabolism in this E2/E2 case; leaves open its modifying role in familial hypobetalipoproteinemia.
We report a 43-year-old Japanese man with hypobetalipoproteinemia likely due to apolipoprotein (apo) B-76, a new truncation of apo B, and with homozygosity for the apo E2 isoform. He had no history suggestive of fat malabsorption and no sign of neurological disorder. His fasting baseline serum low-density lipoprotein (LDL) cholesterol and apo B levels were approximately half of normal. His plasma apo E level was elevated and its phenotype showed the E2/E2 homozygote. SDS-polyacrylamide gel electrophoresis of delipidated LDL fraction revealed a new truncated apo B, designated as apo B-76 according to the centile system of nomenclature. The postprandial lipid metabolism of the patient showed an almost normal response after fat loading.
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Takahashi et al. (2001) conducted a case report in Familial hypobetalipoproteinemia (n=1). Apo B-76 truncation and Apo E2/E2 phenotype was evaluated on Identification of truncated apo B and lipid metabolism characterization. A novel truncated apolipoprotein B, apo B-76, was identified in a 43-year-old Japanese man with familial hypobetalipoproteinemia and an apo E2/E2 phenotype, who exhibited near-normal postprandial lipid metabolism.
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