An uncommon but increasingly diagnosed clinical situation in humans is mitochondrial myopathy, a condition in which muscle function is impaired by defective mitochondrial metabolism in the generation of energy for muscle contraction. It is also now clear that abnormalities of mitochondrial function are not limited to muscle, but may also underlie multisystem disease, in which other tissues are ...

OBJECTIVES Only few data are available about the risk of myopathy patients experiencing a cerebral stroke. AIMS To review the current knowledge about the frequency, pathogenesis, and outcome of stroke in primary/secondary myopathies. METHODS Literature review of all human studies dealing with stroke in primary/secondary myopathies. RESULTS Stroke in myopathies may be either ischemic, meta...

Increased susceptibility to apoptosis has been shown in many models of mitochondrial defects but its relevance to human diseases is still discussed. We addressed the presence of apoptosis in muscle from patients with mitochondrial DNA (mtDNA) disorders. Taking advantage of the mosaic pattern of muscle morphological anomalies associated with heteroplasmic mtDNA alterations, we have used an in si...

Mitochondrial myopathies are a group of neuromuscular disorders that result from defects in the function of the mitochondrion, a small organelle located inside many cells that are responsible for fulfilling energy requirements of the tissue. These structures serve as "power plants" and are particularly important for providing energy for both muscle and brain function due to the large requiremen...

Extraocular muscles are primarily involved in many mitochondrial diseases, but no reports exist regarding the morphological appearance of the muscles in cases of long-standing ocular myopathies. For this reason, muscle samples obtained from surgery in a sporadic case of chronic progressive external ophthalmoplegia (CPEO) were used for ultrastructural investigation and molecular analysis of mito...

Hereditary inclusion body myopathy (HIBM) is an adult onset, slowly progressive distal and proximal myopathy. Although the causing gene, GNE, encodes for a key enzyme in the biosynthesis of sialic acid, its primary function in HIBM remains unknown. To elucidate the pathological mechanisms leading from the mutated GNE to the HIBM phenotype, we attempted to identify and characterize early occurri...

During the last decade, disorders of the respiratory chain, socalled mitochondrial disorders, have emerged as a major clinical entity. Though Leigh’s disease, also known as Subacute Necrotizing Encephalomyelopathy, has been mostly reported in infancy and childhood, it is described in adults [1]. Leigh's disease is a myopathy causing degradation of motor skills with occasional cardiac involvemen...

The mitochondrial myopathies are a heterogeneous group of disorders some of which may be caused by mutations in the mitochondrial genome. Mitochondrial DNA from 10 patients with mitochondrial myopathy and their mothers was analysed using five restriction enzymes and 11 mitochondrial probes in bacteriophage M13. No abnormalities were found in seven out of the 10 patients. Polymorphisms which hav...