Molecular studies in Cuban patients with progressive external ophthalmoplegia

Introduction. The mitochondria, subcellular organelles which possess their own DNA (mtDNA), produce most of the energy, in the form of ATP, which is necessary for life. This mtDNA may have diverse molecular defects which have been associated with a great variety of clinical syndromes. Deletions in mtDNA are one of the common mutations in patients with mitochondrial myopathies, which in the great majority present with the common symptom of progressive external opthalmoplegia. In this study we report our findings in eight Cuban families with suspected mitochondrial disease. Objectives. To characterize these patients from the molecular point of view, which would allow a preliminary understanding of the behaviour of these deletions in Cuban patients. Patients and Methods. We studied nine patients from eight Cuban families in whom mitochondrial encephalo-myopathy was suspected. We analyzed the presence of rugged red fibres, the enzymatic activity of the mitochondrial respiratory chain and detection of mtDNA mutations. We used the technique of restriction length polymorphism analysis for detection of deletions. Results. Histochemical studies showed the presence of COX negative rugged red fibres in seven of the patients studied. The enzymatic activity of the mitochondrial respiratory chain was normal in all the patients. We detected four patients with single deletions of mtDNA, and one with multiple deletions and of the patients had A3243G mutation. Conclusions. With the methods used we were able to determine the presence of a mitochondrial disorder in seven of the eight families studied and deletions of mtDNA were detected as the cause of the illness in five. The disorder was always associated with progressive external opthalmoplegia and COX negative red fibres.