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エンドウ ヤスヒロ
YASUHIRO ENDO
遠藤 康弘 所属 新潟薬科大学 医療技術学部 学部付 職種 准教授 |
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| 言語種別 | 英語 |
| 発行・発表の年月 | 2024/11/01 |
| 形態種別 | 論文 - 研究論文（学術雑誌） |
| 標題 | A New Case of Abetalipoproteinemia Caused by Novel Compound Heterozygote Mutations in the MTTP Gene without Fat or Vitamin Malabsorption. |
| 執筆形態 | 単著（従来区分） |
| 掲載誌名 | Journal of atherosclerosis and thrombosis |
| 掲載区分 | 国内 |
| 巻・号・頁 | 31(11),pp.1634-1640 |
| 著者・共著者 | Kei Sasaki,Hayato Tada,Tomohiro Komatsu,Hisato Terada,Yasuhiro Endo,Katsunori Ikewaki,Yoshinari Uehara |
| 概要 | Abetalipoproteinemia (ABL) is a rare disease characterized by extremely low apolipoprotein B (apoB)-containing lipoprotein levels, dietary fat, and fat-soluble vitamin malabsorption, leading to gastrointestinal, neuromuscular, and ophthalmological symptoms. We herein report a case of ABL with novel compound heterozygous mutations in the microsomal triglyceride transfer protein gene (c.1686_1687del [p.Ser563TyrfsTer10] and c.1862T>C [p.Ile621Thr]), identified via panel sequencing. Although the patient had extremely reduced low-density lipoprotein cholesterol levels and a fatty liver, he did not exhibit other typical complications. Furthermore, unlike typical ABL, this patient had a preserved apoB-48 secretion and increased concentrations of high-density lipoprotein cholesterol, which may account for the normal serum fat-soluble vitamin levels. |
| DOI | 10.5551/jat.64730 |
| PMID | 38749717 |