Diagnosis of complex I deficiency in patients with lactic acidemia using skin fibroblast cultures

Biochemical and Molecular Medicine

Volumn 59, Issue 2, 1996, Pages 134-137

  Pitkänen, Sari ^a   Raha, Sandeep ^a   Robinson, Brian H ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

CITRATE SYNTHASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); ROTENONE;

ARTICLE; CELL FRACTIONATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; HUMAN; HUMAN CELL; LACTIC ACIDEMIA; MITOCHONDRION; SKIN FIBROBLAST;

EID: 0030447468     PISSN: 10773150     EISSN: None     Source Type: Journal    
DOI: 10.1006/bmme.1996.0078     Document Type: Article

References (10)

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2. 2. Fischer JC, Ruitenbeek W, Stadhouders AM, Trijbels RCA, Sengers AJM, Janssen, Veerkamp JH. Investigation of mitochondria metabolism in small human skeletal muscle biopsy specimens. Improvement of preparation procedure. Clin Chim Acta 145:89-94, 1985.
3. 3. Glerum M, Yanamura W, Capaldi R, Robinson BH. Characterisation of cytochrome oxidase mutants in human fibroblasts. FEBS Lett 236:100-104, 1988.
4. 4. Moreadith RW, Batshaw ML, Ohnishi T, Kerr D, Knowx B, Jackson D, Hruba R, Olson J, Reynafarje B, Lehninger AL. Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxido-reductase (complex I) in an infant with congenital lactic acidosis. J Clin Invest 74:685-697, 1984.
5. 5. Pitkänen S, Feigenbaum A, Laframboise R, Robinson BH. NADH-Coenzyme Q reductase (Complex I) Deficiency: Heterogeneity in phenotype and biochemical findings. J Inher Metab Dis in press, 1996.
6. 6. Pitkänen S, Merante F, McLeod DR, Applegarth D, Tong T, Robinson BH. Familial cardiomyopathy with cataracts and lactic acidosis: A defect in complex I (NADH-dehydrogenase) of the mitochondria respiratory chain. Pediatr Res 39:513-521, 1996.
7. 7. Lowry OH, Rosenbrough NJ, Farr AL, Randall RJ. Protein measurement with the folin phenol reagent. J Biol Chem 193:265-275, 1951.
8. 8. Robinson BH, MacKay N, Goodyer P, Lancaster G. Defective intramitochondrial NADH oxidation in skin fibroblasts from an infant with fatal neonatal lacticacidemia. Am J Hum Genet 37:938-946, 1985.
9. 9. Shepherd D, Garland PB. Citrate synthase from rat liver. Methods Enzymol 13:11-19, 1989.
10. 10. Robinson BH, Glerum DM, Chow W, Petrova-Benedict R, Lightowlers R, Capaldi R. The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia. Pediatr Res 28:549-555, 1990.