Journal article

A MITOCHONDRIAL-DNA VARIANT, IDENTIFIED IN LEBER HEREDITARY OPTIC NEUROPATHY PATIENTS, WHICH EXTENDS THE AMINO-ACID-SEQUENCE OF CYTOCHROME-C-OXIDASE SUBUNIT-I

MD BROWN, CC YANG, I TROUNCE, A TORRONI, MT LOTT, DC WALLACE

American Journal of Human Genetics | UNIV CHICAGO PRESS | Published : 1992

Abstract

A G-to-A transition at nucleotide pair (np) 7444 in the mtDNA was found to correlate with Leber hereditary optic neuropathy (LHON). The mutation eliminates the termination codon of the cytochrome c oxidase subunit I (COI) gene, extending the COI polypeptide by three amino acids. The mutation was discovered as an XbaI restriction-endonuclease-site loss present in 2 (9.1%) of 22 LHON patients who lacked the np 11778 LHON mutation and in 6 (1.1%) of 545 unaffected controls. The mutant polypeptide has an altered mobility on SDS-PAGE, suggesting a structural alteration, and the cytochrome c oxidase enzyme activity of patient lymphocytes is reduced approximately 40% relative to that in controls. T..

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University of Melbourne Researchers