Mitochondrial respiratory chain disorders comprise a group of perhaps several hundred different genetic diseases. Each individual disorder is rare, but collectively they account for substantial use of health care resources. However, few accurate data on prevalence are available due to problems such as variation in clinical presentation, age of onset, referral practices and limitations of diagno...

INTRODUCTION Fumarate reductase (FRD) catalyses the reduction of fumarate to succinate and is a key enzyme for the anaerobic functioning of many organisms respiring with fumarate as terminal electron acceptor. The ability to reduce fumarate is a common property among Gram-negative bacteria and some facultative anaerobic Gram-positive bacteria. The reduction of fumarate is also important in the ...

Disorders of mitochondrial oxidative phosphorylation may disturb cardiac energy metabolism and cause cardiomyopathy. Twenty one cases from the literature and one further patient with cardiomyopathy due to biochemically defined respiratory chain defects were reviewed for clinical course, morphology, and pathophysiological mechanisms of the cardiomyopathy. All cases showed concentric hypertrophy ...

Introduction For more than a decade, the search for pathogenic mutations in human diseases due to respiratory chain dysfunction has been focused on the mitochondrial genome. Over 100 mutations affecting both tRNA genes and genes specifying subunits of respiratory chain complexes have now been found (11, 36). In the past few years, the focus of attention has shifted to the search for mutations w...

multiple sclerosis (ms) is a demyelinating disease of the central nervous system characterized by morphological hallmarks of inflammation, demyelination and axonal loss. to date, little attention has been paid to the contribution of mitochondrial respiratory chain enzyme activities to ms. in this study, kinetic analysis of mitochondrial respiratory chain complex i enzyme (measured as nadh ferri...