| Research Abstract |
LDL-RECEPTOR ABNORMALITIES IN FAMILIAL HYPERCHOLESTEROLEMIA.
More than 600 different mutations in the LDL receptor gene have been reported in the world. We have collected 20 homozygotes and more than 1,500 heterozygotes of FH. Eleven variants of LDL receptor gene have been identified in our laboratory. K790X mutant of LDL-receptor gene was a common mutant in this district, and the frequency was 20,9% in FH patients. These 11 mutants accounted for only 38.8% of FH and in other 61.2% of FH the LDL receptor gene mutants remained unknown.
MICROSOMAL TRANSFER PROTEIN (MTP) GENE MUTATION IN ABETALIPOPROTEINEMIA.
The proband was 29 male patient, and his CHOL level was 33 mg/dl, TG was 0 mg/dl, and HDL-C was 28 mg/dl. The gene analysis showed a point mutation in the junction of exon 10 and intron 9 (G to A), which would produce splicing abnormalities and no MTP protein. The proband had only his mother's genes in chromosome 4q. Maternal isodisomy was the basis for homozygosity of the MTP gene mutatin in this patient.
ABC1 MUTATION IN TANGIE'S DISEASE.
Tangier's disease is a rare disease characterized by very low levels of HDL-cholesterol, hypertrophy of orange-coloured tonsils, atherosclerosis and poluneuropathy. Less than 10 patients of Tangier's disease have been reported in Japan. In 1999, ABC1 mutations have been found to be a causative gene mutation in Tangier's disease. We found three novel mutations of ABC1 gene in our three Tangie's disease. Their mutation were A2743C and N875H mutation in exon 18.
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