• Journal of the Korean Society of Food Science and Nutrition
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• v.18 no.1
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• pp.1-13
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• 1989

The present study was designed to examine the effect of dietary fish oil on blood pressure and lipid status of serum. Weanling SHRs and normotensive Wistars were fed a diet containing 5%(w/w) mackerel oil(MO), soybean oil(SO) or beef tallow(BT) for 8 weeks. Growth rate was not significantly different among three dietary groups, but that of SHRs was silightly lower than that of Wistars. SHRs showed higher systolic blood pressure than Wistar rats from the beginning and become hypertensive (over 150mmHg) after 6 week s of feeding period. The MO group of SHRs showed the lowest blood pressure at the 8th week of feeding period but that of Wistars showed similar values with other groups. Tissue weights of liver, heart and kidney were not different amongdietary aroups in Wistars and SHRs. However, heart and kidney weights of SHRs were significantly higher than those of Wistars. Microscopic examination revealed that endomysium of heart tissue and urinary space of kidney were narrowed in SHRs. Serum total and HDL-cholesterol showed similar values among three different dietary fat groups but triglyceride levels were significantly low in MO groups. HDL-cholesterol levels of SHRs were lower than those of Wistars, as well as the fractions of total HDL, the sum of HDL and $HDL_{2+3}$, while VLDL fractions were higher in SHRs. MO groups had the lower values of $HDL_1,\;HDL_{2+3}$ratio than SO and BT groups. Major dietary fatty acids were more or less incorporated into serum phospholipid and triglyceride, resulting in the characteristic fatty acid profile of each dietary group. Incorporation of $C_{18:2}({\omega}_6)$ in SO groups were pronounced, but the degree of incorporation was lower in SHRs. In Mo groups, $C_{22:6}({\omega}_3)$ levels were inreased in triglyceride. It is suggested that these changes in serum lipid fatty acid composition are related to the different patterns of serum lipid by alteration of dietary fats.

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.72-79
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• 2007

Purpose : Glycogen storage disease type III (GSD-III) is a rare autosomal recessive disorder of glycogen metabolism. The affected enzyme, amylo-1,6-glucosidase, 4-alpha-glucanotransferase (AGL, glycogen debranching enzyme), is responsible for the debranching of the glycogen molecule during catabolism. The disease shows clinical and biochemical heterogeneity, reflecting genotype-phenotype heterogeneity among different patients. In this study, we aim at analyzing mutations of the AGL gene in three unrelated Korean GSD-III patients, and characterizing their clinical and laboratory findings. Methods : We characterized the clinical features of three unrelated Korean GSD-III patients by biochemical, histological and imaging studies. The 35 exons and part of exon-intron boundaries of AGL were analyzed by direct sequencing using genomic DNA extracted from the peripheral leukocytes of patients. Results : Diverse clinical features were observed in these patients including hepatomegaly (all patients), seizures (patient 2), grow th failure (patients 1 and 2), hyperlipidemia (patients 1 and 3), raised transaminase and creatine kinase concentrations (all patients), and mild cardiomyopathy (patient 2). Liver transplantation w as performed in patient 2 due to progressive hepatic fibrosis. A dministration of uncooked corn starch maintained normoglycemia and improved biochemical and growth profiles. DNA sequence analysis revealed mutations in 5 out of 6 alleles. Patient 1 was a compound heterozygote of c.1282 G>A (p.R428K) and c.1306delA (p.S603PfsX6), patient 2 had c.1510_1511insT (p.Y 504L fsX 10), and patient 3 had c.3416 T >C (p.L 1139P) and c.1735+1 G>T (p.Y 538_R578delfsX 4) mutations. A part from the p.R428K mutation, the 4 other substitutions identified w ere nov el. Conclusion : GSD-III patients display variable phenotypic characteristics resembling those of GSD-Ia. Molecular defects in the AGL gene of Korean GSD-III patients are genetically heterogeneous.