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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1993 Aug;53(2):481–487.

A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec.

F Merante 1, R Petrova-Benedict 1, N MacKay 1, G Mitchell 1, M Lambert 1, C Morin 1, M De Braekeleer 1, R Laframboise 1, R Gagné 1, B H Robinson 1
PMCID: PMC1682348  PMID: 8392290

Abstract

We report the results of biochemical and molecular investigations on a group of patients from the Saguenay-Lac-Saint-Jean region of Quebec who have an unusual form of cytochrome oxidase deficiency and Leigh disease. This group can be distinguished from the classical presentation of cytochrome oxidase deficiency with Leigh disease, by the severity of the biochemical defect in different tissues. The activity in skin fibroblasts, amniocytes, and skeletal muscle of cytochrome oxidase is 50% of normal, while in kidney and heart it is close to normal values. Brain and liver, on the other hand, have very low activities. The defect in activity appears to result from a failure of assembly of the cytochrome oxidase complex in liver, but levels of mRNA for both mitochondrially encoded and nuclear-encoded subunits in liver and skin fibroblasts were found to be the same as those in controls. The cDNA sequence of the liver-specific cytochrome oxidase subunits VIa and VIIa were determined in samples from patient liver and skin fibroblasts and showed normal coding sequence.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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