EIF2B5 c.185A>T (p.Asp62Val) 変異によって引き起こされる成人発症の消失白質疾患
Jie Zhou1, Chunbo Ji2, Siqing Ma3
1Clinical College of Ningxia Medical University, Yinchuan, Ningxia, China.
Frontiers in genetics
|February 17, 2026
まとめ
この研究は,EIF2B5遺伝子の変異によって引き起こされる稀な成人発症の消失白質病 (VWMD) の症例を報告し,この白血病の既知のスペクトルを拡大しています. 早期の遺伝子検査は,VWMDの診断と管理に不可欠です.
科学分野:
- 神経科学は神経科学である.
- 遺伝学 遺伝学とは
- 珍しい病気 珍しい病気
背景:
- 消失白質病 (VWMD) は,中枢神経系低ミエリン化 (CACH) による小児性アタクシアとも呼ばれ,珍しい,自己相性後退性白血病変性である.
- これは,EIF2B遺伝子ファミリー (EIF2B1-EIF2B5) の病原性変異によって引き起こされます.
- 大人発症のVWMDはまれで,しばしば非典型的な症状を呈し,診断を困難にします.
研究 の 目的:
- 32歳の女性で成人期発症のVWMDの新規症例を報告するために.
- この症例の臨床的および遺伝的特徴を特徴づけるため.
- 成人発症のVWMDにおける遺伝子型-フェノタイプ相関の理解を拡大する.
主な方法:
- VWMDの症状を持つ32歳の中国人女性のケースプレゼンテーション.
- 頭蓋の磁気共鳴画像 (MRI) と分散加重画像 (DWI) を使用する.
- 遺伝子分析のための全エクソームシーケンシング (WES).
主要な成果:
- 患者は頭痛,認知機能の低下,月経の異常,聴覚障害を呈した.
- MRIは白質の異常を明らかにした.
- WESは,EIF2B5遺伝子 (NM_001414.4:c.185A>T,p.Asp62Val) のホモジゴスミセンスの変種を特定し,以前は小児患者のみ報告されていた.
結論:
- c.185A>T EIF2B5変種は,成人期に非古典的な症状で現れ,VWMDの表型スペクトルを拡大することができます.
- EIF2B5は,成人発症のVWMDで最も頻繁に変異したサブユニットであり,小脳アタクシア,認知機能低下,精神症状が一般的です.
- 早期の遺伝子検査は,VWMDの診断,管理,カウンセリングに不可欠です.
キーワード:
EIF2B5B5は,EIF2B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B5B9B9B9B9B9B9B9B9B9大人の発症で発症する.ゲノタイプフェノタイプ相関性ホモジゴス型変種白質の病気の消失 白質の病気の消失さらに関連する動画
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
34.9K
09:37Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
10.5K
関連する概念動画
03:03Amyloid Fibrils
12.1K
Amyloid fibrils are aggregates of misfolded proteins. Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils.
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining,...
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining,...
12.1K
01:31Translation
157.5K
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
157.5K
01:31Translation
18.2K
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
Translation Produces the Building Blocks of Life
Proteins are...
18.2K