| Budget Amount *help |
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2019: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2018: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Outline of Final Research Achievements |
Sitosterolemia is caused by biallelic mutations in the ABCG5 or the ABCG8 genes. We revealed the clinical spectrum, the genotype-phenotype correlations, and the genetic background in patient with monoallelic and biallelic ABCG5 or ABCG8 gene variants in the Japanese population. Clinical analyses in the patients and the family members revealed that there were broad clinical spectrum from severe lethal atherosclerosis to mild phenotype with just hypercholesterolemia and no genotype-phenotype correlations even in patients with same mutations. Plasma cholesterol concentrations were extremely high in infant even in heterozygous carrier, whereas breast-fed infants with sitosterolemia did not increase concentration of plasma sitosterols. Further studies will be needed to clarify the appropriate therapies for the disease and adverse impacts of the heterozygous carriers for atherosclerotic disease .
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