9 - The use of tissue culture in the diagnosis of mitochondrial disease

Abstract

Publisher Summary Despite the foundations laid for the study of mitochondrial myopathy and respiratory chain defects by the biochemical studies of mitochondria isolated from muscle biopsy tissue, there are some problems associated with mitochondrial isolation artifacts and a very confusing literature in which patients are categorized by biochemical phenotype. Although recent advances in molecular biology have gone some way to resolving this problem by describing the mitochondrial tRNA mutations responsible for mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) and myoclonic epilepsy with ragged red fibers (MERRF) by using tissue culture techniques describes a wide variety of defects in energy metabolism and perform studies that are not feasible with biopsy specimens. This chapter reviews the use of tissue culture techniques in the diagnosis and research of mitochondrial diseases and presents a comparison with the results obtained from muscle biopsy and postmortem material. An approach to the use of cultured cells, particularly skin fibroblasts in the detection of mitochondrial disease, stemmed initially from studies into the etiology of lacticacidemia in childhood rather than the study of mitochondrial myopathies.