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J. Biol. Chem., Vol. 276, Issue 19, 16296-16301, May 11, 2001
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From the Cytochrome c oxidase (COX) deficiency
is the most common respiratory chain defect in childhood and is
clinically heterogeneous. We report a study of six patients with COX
deficiencies. Two of the patients had as yet undefined defects, three
patients had Surf-1 mutations, and one patient had a 15-base pair
deletion in the COX III subunit. We show that quantitative measurements of steady-state levels of subunits by monoclonal antibody reactivity, when used in combination with a discontinuous sucrose gradient methods,
provide an improved diagnosis of COX deficiencies by distinguishing
between kinetic, stability, and assembly defects. The two mutants of
undefined etiology had a full complement of subunits with one stable
and the other partially unstable to detergent solubilization. Both are
likely to carry mutations in nuclear-encoded subunits of the complex.
The three Surf-1 mutants and the COX III mutant each had reduced
steady-state levels of subunits but variable associations of the
residual subunits. This information, as well as aiding in diagnosis,
helps in understanding the genotype-phenotype relationships of COX
deficiencies and provides insight into the mechanism of assembly of the
enzyme complex.
Cytochrome c Oxidase-deficient Patients Have Distinct
Subunit Assembly Profiles*
§¶,
,,,
Institute of Molecular Biology, University
of Oregon, Eugene, Oregon 97403, the Unita' di Medicina
Molecolare, Ospedale Pediatrico "Bambino Gesu," Piazza S. Onofrio
4, 00165 Roma, Italy, and the ** Hospital for Sick Children, Toronto,
Ontario M5G 1X8, Canada
*
This work was supported in part by National Institutes of
Health Grant HL24526 (to R. A. C.) and by Ricerca Finalizzata,
Italian Ministry of Health (30.3/RF 98.37).The costs of publication of this
article were defrayed in part by the
payment of page charges. The article
must therefore be hereby marked
"advertisement" in accordance with 18 U.S.C. Section
1734 solely to indicate this fact.
To whom correspondence should be addressed. Tel.: 541-346-5881;
Fax: 541-346-4854; E-mail: rcapaldi@oregon.uoregon.edu.
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