ミトコンドリア脳筋症の治療—とくにCoenzyme Q10療法について

Treatment of mitochondrial encephalomyopathies with special reference to coenzyme Q10.

I．はじめに

　ミトコンドリア脳筋症は，ミトコンドリアの形態的もしくは生化学的異常を有し，中枢神経系，骨格筋系をはじめとして全身の多組織に障害を有する疾患群である^1〜3）。原因不明のものも多く，治療は一般に困難である。病因あるいは病態が明らかになった疾患に対しては，それらに対して以下に示すような治療が試みられている（図1）。

　1．欠乏した基質を補う―muscle carnitine deficiencyおよびsystemic carnitine deficiencyに対するL-carnitine投与^4〜7）。

Mitochondrial encephalomyopathies are diseases with mitochondrial constructional or functional abnormalities. In several cases enzyme deficiencies have been detected and some therapeutic trials revealed activation of the deficient enzymes. But in most of the mitochondrial myopathies, such as Kearns-Sayre syndrome, mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS) and myoclonus epilepsy with raggedred fibers (MERRF), pathogenesis is remained to be obscure and therapeutic methods uncertain. We have reported that almost all the enzymatic activities of mitochondrial inner membrane electron transport system and coenzyme Q₁₀ contents, which is one of the major components of this transport system, were decreased per mitochondrial protein content. In order to supply the deficient coenzyme Q₁₀ we administered the coenzyme Q₁₀ in a dose of 120-150 mg per day to five patients with Kearns-Sayre syndrome to find its efficacy. We describe here the results of this treatment in detail. The effects of the coenzyme Q₁₀ therapy were as follows: