Treatment of mitochondrial disorders: practical and theoretical issues

Abstract

lntroducfion ,*, ,I *.-x/,,,,,* , .,.?,IIs, ,x1-*I” llllL( sx _)_ This article will concentrate on diseases that are caused by dysfunction of the mitochondrial respiratory chain. It is not meant as a review of all the treatments that have been tried, but will concentrate on practical issues and explore some of the newer, experimental alternatives including those based on genetic manipulation. Respiratory chain dysfunction produces a wide range of disease from fatal forms of encephalopathy typified by the syndrome of MELAS (myopathy, encephalopathy, lactic acidosis and stroke-like episodes), diabetes, seizures, renal dysfunction and myopathy.lm4 Such disorders may ‘present at any age, in any system and with any form of inheritance’ (Jean Marie Saudubray, personal communication, 1993). The field is a complex one, not least in terms of understanding the clinical expression of these disorders, so the reader is directed to other texts where necessary.