Biochemical and Molecular Studies of Mitochondrial Function in Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness

Abstract

We have found no evidence that DIDMOAD is associated with a systemic abnormality of respiratory chain function. The mitochondrial DNA single-base substitution noted is likely to be a polymorphism rather than a pathogenic point mutation. We have confirmed that DIDMOAD may be associated with a neurodegenerative disorder, but the cause of this remains undetermined.