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Generation of Genomic Deletions in Mammalian Cell Lines via CRISPR/Cas9
Published on: January 3, 2015
ミトコンドリアDNA消去障害を発症するリスク
Patrick F Chinnery1, Salvatore DiMauro, Sara Shanske
1Neurology, University of Newcastle upon Tyne, Newcastle upon Tyne, UK. P.F.Chinnery@ncl.ac.uk
Lancet (London, England)
|August 18, 2004
まとめ
ミトコンドリアDNA (mtDNA) 欠損障害は,母親の年齢とともに増加しません. 影響を受けた女性は,mtDNA消去障害を子孫に受け継ぐリスクは24分の1です.
科学分野:
- 遺伝学 遺伝学とは
- ミトコンドリア生物学
- 人間の病気 ヒトの病気
背景:
- 病原性ミトコンドリアDNA (mtDNA) 変異は,少なくとも8000人に1人に影響する.
- 現在,mtDNA障害に対する効果的な治療法は存在しないため,病気の予防の重要性を強調しています.
- 多くの患者には単一の病原性mtDNAの欠損があるが,新規症例と再発の危険因子は不明である.
研究 の 目的:
- 妊産婦の年齢と,mtDNA消去障害を持つ子供を産む影響を受けていない母親のリスクとの関係を調査する.
- 影響を受けた個人の兄弟姉妹および子孫の間でmtDNA消去障害の再発リスクを決定する.
主な方法:
- 単一のmtDNA消去で特定されたプロンバンドを持つ226の家族を対象としたマルチセンター研究.
- 慢性進行性外側眼性麻痺,キーーンズ・サイア症候群,ピアソン症候群の患者も含まれていた.
- 母親の年齢と罹患児のリスクとの関連を分析し,再発リスクを計算した.
主要な成果:
- 妊産婦の年齢と,影響を受けていない母親がmtDNA消去障害を持つ子供を産むリスクとの間には,相関関係が見つかりませんでした.
- インデックス症例の251人の兄弟姉妹のうち,mtDNA疾患の臨床的特徴を発症した者はいなかった.
- 罹患した女性の子孫の間で再発するリスクは4.11% (約24出産に1件) であった.
結論:
- mtDNA欠損障害の発生率は,核染色体再配置とは異なり,母親の年齢の影響を受けません.
- 影響を受けていない母親は,mtDNA消去障害を持つ子供が1人以上いる可能性は低い.
- 罹患した女性の臨床的に罹患した子を持つリスクは,約24人に1人であり,これは以前に想定されたより高いリスクです.
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