Tissue distribution and disease manifestations of the tRNA(Lys) A-->G(8344) 
mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres

Oldfors, A.; Holme, E.; Tulinius, M.; Larsson, N.G.

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Tissue distribution and disease manifestations of the tRNA(Lys) A-->G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres

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Larsson, N.G.
Department Larsson - Mitochondrial Biology, Max Planck Institute for Biology of Ageing, Max Planck Society;

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Citation

Oldfors, A., Holme, E., Tulinius, M., & Larsson, N. (1995). Tissue distribution and disease manifestations of the tRNA(Lys) A-->G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres. Acta Neuropathol, 90(3), 328-33.

Cite as: https://hdl.handle.net/21.11116/0000-000B-6FD6-8

Abstract

This man with myoclonus epilepsy and ragged red fibres (MERRF) syndrome due to the tRNA(Lys) A-->G(8344) mutation of mitochondrial DNA (mtDNA) died of bronchopneumonia at 18 years of age. He had progressive clinical symptoms from 6 months of age manifesting as ataxia, myoclonic seizures, and muscle weakness. A post-mortem examination revealed 91-99% mutated mtDNA in all 32 examined tissue samples, including various organs and different brain regions. The brain appeared without macroscopic changes, but microscopic examination showed degeneration with loss of nerve cells and gliosis affecting the globus pallidus, substantia nigra, red nucleus, dentate nucleus, inferior olivary nucleus, cerebellar cortex, and the spinal cord. Skeletal muscle showed cytochrome c oxidase deficient muscle fibres with proliferation of mitochondria. In addition to pathological changes of muscle and brain there were few morphological changes that could be attributed to his mitochondrial disease. These data support the concept that in patients with the tRNA(Lys) A-->G(8344) mutation who are manifesting disease there are high levels of mutated mtDNA in all tissues, but only some tissues and brain regions are vulnerable.