2つの異なる集団における拡張性心筋病への感受性に関連した一般的なミトコンドリアDNA変異体

S S Khogali, B M Mayosi, J M Beattie

Lancet (London, England)

|June 22, 2001

まとめ

一般的なミトコンドリアDNA変種 (T16189C) は,拡張性心筋病症のリスクの増加と関連しています. この発見は,この心臓病の散発的な症例においてミトコンドリアの役割を示唆しています.

科学分野:

遺伝学遺伝学とは
心臓病学心臓病学
ミトコンドリア生物学

背景:

Idiopathic dilated cardiomyopathy (IDC) は,特定のミトコンドリアDNA (mtDNA) 変異によって引き起こされるミトコンドリア疾患としばしば関連しています.
散発性IDCへの予備性における一般的なmtDNAポリモルフィズムが果たす役割は不明である.

研究の目的:

特定のmtDNA変種 (T16189C) が,以前に2型糖尿病と関連していることが,散発性拡張性心筋病の感受性の増加と関連しているかどうかを調査する.

主な方法:

拡張性心筋病症と診断された2つの独立した患者集団の分析.
感染した個人および対照群におけるT16189C mtDNA変異のゲノタイプ化.
患者と対照群の変異頻度の比較.

主要な成果:

T16189Cポリモルフィズムは,対照群と比較して,両方の拡張性心筋病の集団で頻度が有意に増加したことを示した (p=0.002).
この変異は,多様なmtDNAの遺伝的背景で観察され,これは偶然の関連ではなく,機能的ポリモルフィズムである可能性があることを示しています.

結論:

この研究は,散発的な拡張性心筋病変にミトコンドリアが寄与する証拠を提供する.
T16189C mtDNA変異は,拡張性心筋症の発生に対する感受性の増加と関連しており,疾患のエチオロギーにおける潜在的な役割を示唆しています.

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