Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia

摘要: Elevated plasma levels of apolipoprotein B (apoB)-containing lipoproteins constitute a major risk factor for the development coronary heart disease. In rare recessively inherited disorder abetalipoproteinemia (ABL) production apoB-containing is abolished, despite no abnormality apoB gene. current study we have characterized gene encoding microsomal triglyceride-transfer protein (MTP), localized to chromosome 4q22-24, and identified mutation MTP in both alleles all individuals cohort eight patients with classical ABL. Each mutant allele predicted encode truncated form variable number aberrant amino acids at its C-terminal end. Expression genetically engineered forms Cos-1 cells indicates that portion necessary activity. Deletion 20 from carboxyl terminus 894-amino-acid missense cysteine 878 serine abolished These results establish defects are predominant, if not sole, cause hereditary ABL an intact