2023 Fiscal Year Final Research Report
Research for novel genetic basis of familial hypobetalipoproteinemia
| Project/Area Number |
21K08066
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Review Section |
Basic Section 53020:Cardiology-related
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| Research Institution | Osaka University of Human Sciences |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
岡田 寛史 金沢大学, 附属病院, 助教 (10735161)
多田 隼人 金沢大学, 附属病院, 助教 (90623653)
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| Project Period (FY) |
2021-04-01 – 2024-03-31
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| Keywords | 家族性低βリポタンパク血症 |
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| Outline of Final Research Achievements |
A case of PCSK9 gene loss-of-function mutant homozygous was recognized and reported in an English-language journal. Interestingly, no phenotypes such as liver or kidney damage or fat-soluble vitamin deficiency were identified. We also identified overlapping families with familial hypercholesterolemia (FH) phenotypes and FHBL phenotypes. Interestingly, we confirmed that the phenotype of marked hyperLDL cholesterolemia was completely canceled by a loss-of-function gene mutation in Apo B. In addition, we identified an FHBL family associated with homozygous ANGPTL3 loss-of-function gene mutation, which is thought to be the first of its kind in Japan. It was found that liver dysfunction, renal dysfunction, and fat-soluble vitamin deficiency were not involved.
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| Free Research Field |
分子遺伝学
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| Academic Significance and Societal Importance of the Research Achievements |
PCSK9やANGPTL3欠損症においても重篤な肝障害や腎障害、脂溶性ビタミン欠乏などを認めなかったことからこれら分子の阻害によるLDLコレステロール低下療法の有効性や安全性が示唆された。さらには、著明な高LDLコレステロールを呈する家族性高コレステロール血症に対してもこれらの分子の阻害が有効かつ安全であることが示唆された。
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