糖尿病は,ミトコンドリアDNAの病原性点変異と関連している
W Reardon1, R J Ross, M G Sweeney
1Mothercare Unit of Clinical Genetics and Fetal Medicine, Institute of Child Health, London, UK.
Lancet (London, England)
|December 5, 1992
まとめ
ミトコンドリアDNA (mtDNA) の欠陥は,糖尿病 (DM) に寄与する可能性があります. 特定のmtDNA変異が糖尿病の家族,特に母親から受け継がれてきた家族で発見され,mtDNAとDMの関連性を示唆しています.
科学分野:
- 遺伝学 遺伝学とは
- メタボリック障害 メタボリック障害
- ミトコンドリア生物学
背景:
- 糖尿病 (DM) は,母系においてより高い罹患率を示しています.
- ミトコンドリアDNA (mtDNA) は母親から受け継がれます.
- DMの珍しい神経症候群はmtDNAの欠陥と関連しています.
研究 の 目的:
- 糖尿病におけるmtDNA欠陥の潜在的な役割を調査する.
- マルチシステム障害とDMの家族における特定のmtDNA点変異を特定する.
- DMに関連して特定されたmtDNA変異の母性伝播パターンを調査する.
主な方法:
- 14人の家族を対象とした家族ベースの遺伝子研究.
- グルコース不耐性のスクリーニング.
- tRNAレウシンミトコンドリア遺伝子の位置3243の既知の点変異を検出するためのDNA分析.
主要な成果:
- 特定のmtDNA点変異は,3人の糖尿病患者全員で特定されました.
- この突然変異は,検体検体の死後の組織に存在していた.
- この変異は,女性患者の7人の子孫に見つかりましたが,男性被験者の子供には見つかりませんでした.
結論:
- 特定のmtDNA変異 (3243 tRNA Leu) は,この家族における糖尿病と関連しています.
- mtDNA変異の母から母への感染は,DMの発生と相関しています.
- 臨床医は,マルチシステム疾患の家族におけるmtDNAの欠陥と,DMの母から母への感染を考慮すべきである.
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