New approaches to the treatment of mitochondrial disorders.

Patrick F Chinnery

Journal: Reproductive biomedicine online 2004;8(1):16-23

PMID: 14759282

Abstract

Mitochondrial disorders are among the most common inherited metabolic diseases and the issue of treatment arises on a regular basis. There is no established treatment for mitochondrial disorders and current management is largely supportive, but recent advances in our understanding of the pathophysiology provide hope for novel treatments. Patients with mitochondrial myopathy due to mutations of mitochondrial DNA (mtDNA) may benefit from treatments that move normal mitochondrial genomes from the muscle satellite cells into skeletal muscle, but there are concerns about the long-term effects of this approach. A greater understanding of the pathophysiology of a number of nuclear genetic mitochondrial disorders suggests new avenues for treatment (such as copper-histidine in children with SCO2 gene mutations, and strategies modifying intra-mitochondrial nucleoside pools in the various disorders of mtDNA maintenance). A number of different strategies are also being explored at the molecular level, including the use of antigenomic molecules to mutated mtDNA and the allotropic expression of mutated mtDNA genes within the cell nucleus. Nuclear transfer techniques also provide hope for women at risk of transmitting pathogenic mtDNA mutations.

Address: Department of Neurology, Medical School, Framlington Place, The University of Newcastle upon Tyne, NE2 4HH, UK. [email protected]

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