An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy

Article Abstract:

A family with mitochondrial disease was found to have an mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II (COX II) gene. The mutation brings lower levels of the protein and a mitochondrial encephalomyopathy. It is predicted that the T-->C transition changes the initiating methionine to threonine. The mutation load was at 67% in muscle from the index case and at 91% in muscle from the clinically affected son of the patient. An isolated COX deficiency was seen in muscle biopsy samples. The mutation is a new mechanism through which mtDNA mutations can cause disease-defective translation initiation.

United Kingdom, Usage, Physiological aspects, Genetic aspects, Chromosome mapping, Genetic disorders, Encephalopathy, Mitochondrial myopathies

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Mutant POLG2 disrupts DNA polymerase gama subunits and causes progressive external opthalmoplegia

Article Abstract:

A heterozygous dominant mutation in POLG2 is described, the gene encoding the p55 accessory subunit of pol gama, that causes progressive external opthalmoplegia with multiple mtDNA deletions and cytochrome c oxidase-(COX) deficient muscle fibres. The progressive accumulation of mtDNA deletions causes COX deficiency in muscle fibres and results in the clinical phenotype.

United States, DNA polymerases

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Clinical expression of Leber Heredity Optic Neuropathy is affected by the mitochondrial DNA-haplogroup background

Article Abstract:

The article describes the study that was done on mtDNA. Results showed clear evidence that different mtDNA haplo-groups influence the clinical penetrance of the three primary LHON mtDNA mutations.

Science & research, Gene mutations, Haploidy

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