Mitochondrial respiratory chain complex assembly and function during human fetal development

Molecular Genetics and Metabolism

Volumn 94, Issue 1, 2008, Pages 120-126

  Minai, Limor ^a   Martinovic, Jelena ^a   Chretien, Dominique ^a   Dumez, Françoise ^a   Razavi, Férechté ^a   Munnich, Arnold ^a   Rötig, Agnès ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Enzymatic activity; Fetal development; Mitochondria; Respiratory chain assembly

Indexed keywords

MUTANT PROTEIN;

ARTICLE; BRAIN DEVELOPMENT; CELL FUNCTION; COMPARATIVE STUDY; DEVELOPMENTAL STAGE; FETUS; FETUS DEVELOPMENT; HEART DEVELOPMENT; HUMAN; HUMAN TISSUE; KIDNEY DEVELOPMENT; LIVER DEVELOPMENT; MITOCHONDRIAL RESPIRATION; MUSCLE DEVELOPMENT; OXIDATIVE PHOSPHORYLATION; PATHOLOGY; PERINATAL PERIOD; PRENATAL PERIOD; PRIORITY JOURNAL; PROTEIN EXPRESSION; REGULATORY MECHANISM; RESPIRATORY CHAIN; SECOND TRIMESTER PREGNANCY;

DNA, MITOCHONDRIAL; ELECTRON TRANSPORT; ELECTRON TRANSPORT CHAIN COMPLEX PROTEINS; ELECTRON TRANSPORT COMPLEX I; ELECTRON TRANSPORT COMPLEX II; ELECTRON TRANSPORT COMPLEX III; ELECTRON TRANSPORT COMPLEX IV; FEMALE; FETAL DEVELOPMENT; FETUS; HUMANS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; OXIDATIVE PHOSPHORYLATION; PREGNANCY;

EID: 41949132639     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.12.007     Document Type: Article

References (28)

1. Munnich A., and Rustin P. Clinical spectrum and diagnosis of mitochondrial disorders. Am. J. Med. Genet. 106 (2001) 4-17
2. von Kleist-Retzow J.C., Cormier-Daire V., Viot G., Goldenberg A., Mardach B., Amiel J., Saada P., Dumez Y., Brunelle F., Saudubray J.M., Chretien D., Rotig A., Rustin P., Munnich A., and De Lonlay P. Antenatal manifestations of mitochondrial respiratory chain deficiency. J. Pediatr. 143 (2003) 208-212
3. Prieur B., Cordeau-Lossouarn L., Rotig A., Bismuth J., Geloso J.P., and Delaval E. Perinatal maturation of rat kidney mitochondria. Biochem. J. 305 Pt. 2 (1995) 675-680
4. Izquierdo J.M., Luis A.M., and Cuezva J.M. Postnatal mitochondrial differentiation in rat liver. Regulation by thyroid hormones of the beta-subunit of the mitochondrial F1-ATPase complex. J. Biol. Chem. 265 (1990) 9090-9097
5. Kim K., Lecordier A., and Bowman L.H. Both nuclear and mitochondrial cytochrome c oxidase mRNA levels increase dramatically during mouse postnatal development. Biochem. J. 306 Pt 2 (1995) 353-358
6. Papa S. Mitochondrial oxidative phosphorylation changes in the life span. Molecular aspects and physiopathological implications. Biochim. Biophys. Acta 1276 (1996) 87-105
7. Jauniaux E., Watson A., and Burton G. Evaluation of respiratory gases and acid-base gradients in human fetal fluids and uteroplacental tissue between 7 and 16 weeks' gestation. Am. J. Obstet. Gynecol. 184 (2001) 998-1003
8. Jauniaux E., Watson A.L., Hempstock J., Bao Y.P., Skepper J.N., and Burton G.J. Onset of maternal arterial blood flow and placental oxidative stress. A possible factor in human early pregnancy failure. Am. J. Pathol. 157 (2000) 2111-2122
9. Faivre L., Cormier-Daire V., Chretien D., Christoph von Kleist-Retzow J., Amiel J., Dommergues M., Saudubray J.M., Dumez Y., Rotig A., Rustin P., and Munnich A. Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency. Prenat. Diagn. 20 (2000) 732-737
10. Schuelke M., Detjen A., van den Heuvel L., Korenke C., Janssen A., Smits A., Trijbels F., and Smeitink J. New nuclear encoded mitochondrial mutation illustrates pitfalls in prenatal diagnosis by biochemical methods. Clin. Chem. 48 (2002) 772-775
11. Rustin P., Chretien D., Bourgeron T., Gerard B., Rotig A., Saudubray J.M., and Munnich A. Biochemical and molecular investigations in respiratory chain deficiencies. Clin. Chim. Acta 228 (1994) 35-51
12. Schagger H., and von Jagow G. Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form. Anal. Biochem. 199 (1991) 223-231
13. Nijtmans L.G., Henderson N.S., and Holt I.J. Blue native electrophoresis to study mitochondrial and other protein complexes. Methods 26 (2002) 327-334
14. Laemmli U.K. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227 (1970) 680-685
15. Liu W., and Saint D.A. A new quantitative method of real time reverse transcription polymerase chain reaction assay based on simulation of polymerase chain reaction kinetics. Anal. Biochem. 302 (2002) 52-59
16. Bai Y., and Attardi G. The mtDNA-encoded ND6 subunit of mitochondrial NADH dehydrogenase is essential for the assembly of the membrane arm and the respiratory function of the enzyme. EMBO J. 17 (1998) 4848-4858
17. Rahman S., Taanman J.W., Cooper J.M., Nelson I., Hargreaves I., Meunier B., Hanna M.G., Garcia J.J., Capaldi R.A., Lake B.D., Leonard J.V., and Schapira A.H. A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy. Am. J. Hum. Genet. 65 (1999) 1030-1039
18. Wang Z.G., Sheluho D., Gatti D.L., and Ackerman S.H. The alpha-subunit of the mitochondrial F(1) ATPase interacts directly with the assembly factor Atp12p. EMBO J. 19 (2000) 1486-1493
19. Schagger H., Brandt U., Gencic S., and von Jagow G. Ubiquinol-cytochrome-c reductase from human and bovine mitochondria. Methods Enzymol. 260 (1995) 82-96
20. Birch-Machin M.A., Marsac C., Ponsot G., Parfait B., Taylor R.W., Rustin P., and Munnich A. Biochemical investigations and immunoblot analyses of two unrelated patients with an isolated deficiency in complex II of the mitochondrial respiratory chain. Biochem. Biophys. Res. Commun. 220 (1996) 57-62
21. Kotarsky H., Tabasum I., Mannisto S., Heikinheimo M., Hansson S., and Fellman V. BCS1L is expressed in critical regions for neural development during ontogenesis in mice. Gene Expr. Patterns 7 (2007) 266-273
22. Wenchich L., Zeman J., Hansikova H., Plavka R., Sperl W., and Houstek J. Mitochondrial energy metabolism in very premature neonates. Biol. Neonate 81 (2002) 229-235
23. Marin-Garcia J., Ananthakrishnan R., and Goldenthal M.J. Heart mitochondrial DNA and enzyme changes during early human development. Mol. Cell. Biochem. 210 (2000) 47-52
24. Antonicka H., Sasarman F., Kennaway N.G., and Shoubridge E.A. The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1. Hum. Mol. Genet. 15 (2006) 1835-1846
25. Nakai A., Taniuchi Y., Asakura H., Oya A., Yokota A., Koshino T., and Araki T. Developmental changes in mitochondrial activity and energy metabolism in fetal and neonatal rat brain. Brain Res. Dev. Brain Res. 121 (2000) 67-72
26. Matthews P.M., Hopkin J., Brown R.M., Stephenson J.B., Hilton-Jones D., and Brown G.K. Comparison of the relative levels of the 3243 (A → G) mtDNA mutation in heteroplasmic adult and fetal tissues. J. Med. Genet. 31 (1994) 41-44
27. Poulton J., and Marchington D.R. Progress in genetic counselling and prenatal diagnosis of maternally inherited mtDNA diseases. Neuromuscul. Disord. 10 (2000) 484-487
28. White S.L., Collins V.R., Wolfe R., Cleary M.A., Shanske S., DiMauro S., Dahl H.H., and Thorburn D.R. Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993. Am. J. Hum. Genet. 65 (1999) 474-482