[LDL receptor gene analysis and phenotypic variation of familial hypercholesterolemia].
Familial hypercholesterolemia, one of the most common single-gene disease in which defective catabolism of LDL is responsible for the increased plasma cholesterol and leads to the deposition of cholesterol in the arterial wall and premature coronary artery disease, is caused by inherited defects in the gene for the low density lipoprotein receptor. Clinical variation is known to exist in familial hypercholesterolemia. Since cloning of the human LDL receptor gene, it has been revealed that the nature of the LDL receptor gene mutation contributes to these clinical variability of familial hypercholesterolemia. Other mutations not linked to LDL receptor gene, such as apo E, apo B and several growth factor genes, and environmental factors may also be related to the severity of symptom or response to the treatment in familial hypercholesterolemia. Further study in the molecular biological field using knock-out and transgenic expression techniques is needed to elucidate the key factors which influence the clinical varieties of expression in familial hypercholesterolemia and to develop the new methods for treatment.
Tada
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Department of Internal Medicine, Aoto Hospital, School of Medicine, Jikei University.
D014644:Genetic Variation; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D011973:Receptors, LDL / Q000235:genetics*
D011973:Receptors, LDL