Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability

Human Molecular Genetics

Volumn 24, Issue 14, 2015, Pages 3948-3955

  Angebault, Claire ^a   Charif, Majida ^a,b   Guegen, Naig ^b   Piro Megy, Camille ^a   Mousson de camaret, Benedicte ^c   Procaccio, Vincent ^b   Guichet, Pierre Olivier ^a   Hebrard, Maxime ^a   Manes, Gael ^a   Leboucq, Nicolas ^d   Rivier, François ^a,d   Hamel, Christian P ^a,e   Lenaers, Guy ^a,b   Roubertie, Agathe ^a,d  

^a UNIV MONTPELLIER   (France)

^b ANGERS UNIVERSITY HOSPITAL   (France)

^c Ctr de Biochim et de Biol Molec   (France)

^d GUI DE CHAULIAC HOSPITAL   (France)

^e National Centre for Genetic Sensory Diseases   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CITRATE SYNTHASE; CYTOCHROME C OXIDASE; HOLOENZYME; NDUFA13 PROTEIN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE; UNCLASSIFIED DRUG; APOPTOSIS REGULATORY PROTEIN; GRIM19 PROTEIN, HUMAN; OXIDOREDUCTASE;

ARTICLE; BIOCHEMICAL ANALYSIS; CHILD; CONTROLLED STUDY; DENTATE NUCLEUS; DYSKINESIA; ELECTROMYOGRAPHY; ELECTRORETINOGRAM; ENZYME ACTIVITY; EYE FUNDUS; EYE MOVEMENT DISORDER; FAILURE TO THRIVE; FOLLOW UP; GENE MUTATION; HUMAN; HUMAN TISSUE; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; OPEN READING FRAME; OPTIC NERVE ATROPHY; OXYGEN CONSUMPTION; PRIORITY JOURNAL; SENSORY DYSFUNCTION; VASTUS LATERALIS MUSCLE; DEFICIENCY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FEMALE; GENETICS; IMAGE PROCESSING; METABOLISM; MUTATION; PEDIGREE; PRESCHOOL CHILD;

APOPTOSIS REGULATORY PROTEINS; CHILD; CHILD, PRESCHOOL; DYSKINESIAS; ELECTRON TRANSPORT COMPLEX I; FEMALE; FOLLOW-UP STUDIES; HUMANS; IMAGE PROCESSING, COMPUTER-ASSISTED; MAGNETIC RESONANCE IMAGING; MITOCHONDRIAL DISEASES; MUSCLE HYPOTONIA; MUTATION; NADH, NADPH OXIDOREDUCTASES; OPEN READING FRAMES; PEDIGREE;

EID: 84936756860     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv133     Document Type: Article

References (19)

1. Lazarou, M., Thorburn, D.R., Ryan, M.T. and McKenzie, M. (2009) Assembly of mitochondrial complex I and defects in disease. Biochim. Biophys. Acta, 1793, 78-88.
2. Balsa, E., Marco, R., Perales-Clemente, E., Szklarczyk, R., Calvo, E., Landázuri, M.O. and Enriquez, J.A. (2012) NDUFA4 is a subunit of complex IV of the mammalian electron transport chain. Cell Metab., 16, 378-386.
3. Hoefs, S.J.G., Rodenburg, R.J., Smeitink, J.A.M. and van den Heuvel, L.P. (2012) Molecular base of biochemical complex I deficiency. Mitochondrion, 12, 520-532.
4. Acín-Pérez, R., Fernández-Silva, P., Peleato, M.L., Pérez-Martos, A. and Enriquez, J.A. (2008) Respiratory active mitochondrial supercomplexes. Mol. Cell, 32, 529-539.
5. Vonck, J. and Schäfer, E. (2009) Supramolecular organization of protein complexes in the mitochondrial inner membrane. Biochim. Biophys. Acta, 1793, 117-124.
6. Distelmaier, F., Koopman, W.J.H., van den Heuvel, L.P., Rodenburg, R.J., Mayatepek, E., Willems, P.H.G.M. and Smeitink, J.A. M. (2008) Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. Brain, 132, 833-842.
7. Fassone, E. and Rahman, S. (2012) Complex I deficiency: clinical features, biochemistry and molecular genetics. J. Med. Genet., 49, 578-590.
8. Koene, S., Rodenburg, R.J., Knaap, M.S., Willemsen, M.A.A.P., Sperl, W., Laugel, V., Ostergaard, E., Tarnopolsky, M., Martin, M.A., Nesbitt, V. et al. (2012) Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases. J. Inherit. Metab. Dis., 35, 737-747.
9. Wallace, D.C., Singh, G., Lott, M.T., Hodge, J.A., Schurr, T.G., Lezza, A.M., Elsas, L.J. and Nikoskelainen, E.K. (1988) Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science, 242, 1427-1430.
10. Carelli, V., Ross-Cisneros, F.N. and Sadun, A.A. (2004) Mitochondrial dysfunction as a cause of optic neuropathies. Prog. Retin. Eye Res., 23, 53-89.
11. Lebre, A.S., Rio, M., Faivre d'Arcier, L., Vernerey, D., Landrieu, P., Slama, A., Jardel, C., Laforet, P., Rodriguez, D., Dorison, N. et al. (2010) A common pattern of brain MRI imaging in mitochondrial diseaseswith complex I deficiency. J. Med. Genet., 48, 16-23.
12. Moreira, S., Correia, M., Soares, P. and Máximo, V. (2011) GRIM-19 function in cancer development. Mitochondrion, 11, 693-699.
13. Hofmann, E.R., Boyanapalli, M., Lindner, D.J., Weihua, X., Hassel, B.A., Jagus, R., Gutierrez, P.L., Kalvakolanu, D.V. and Hofman, E.R. (1998) Thioredoxin reductase mediates cell death effects of the combination of beta interferon and retinoic acid. Mol. Cell. Biol., 18, 6493-6504.
14. Huang, G., Lu, H., Hao, A., Ng, D.C.H., Ponniah, S., Guo, K., Lufei, C., Zeng, Q. and Cao, X. (2004) GRIM-19, a cell death regulatory protein, is essential for assembly and function of mitochondrial complex I. Mol. Cell. Biol., 24, 8447-8456.
15. Seo, T., Lee, D., Shim, Y.S., Angell, J.E., Chidambaram, N.V., Kalvakolanu, D.V. and Choe, J. (2002) Viral interferon regulatory factor 1 of Kaposi's sarcoma-associated herpesvirus interacts with a cell death regulator, GRIM19, and inhibits interferon/retinoic acid-induced cell death. J. Virol., 76, 8797-8807.
16. Zhang, J., Yang, J., Roy, S.K., Tininini, S., Hu, J., Bromberg, J.F., Poli, V., Stark, G.R. and Kalvakolanu, D.V. (2003) The cell death regulator GRIM-19 is an inhibitor of signal transducer and activator of transcription 3. Proc. Natl. Acad. Sci. USA, 100, 9342-9347.
17. Tammineni, P., Anugula, C., Mohammed, F., Anjaneyulu, M., Larner, A.C. and Sepuri, N.B.V. (2013) The import of the transcription factor STAT3 into mitochondria depends on GRIM-19, a component of the electron transport chain. J. Biol. Chem., 288, 4723-4732.
18. Rahman, S., Blok, R.B., Dahl, H.H., Danks, D.M., Kirby, D.M., Chow, C.W., Christodoulou, J. and Thorburn, D.R. (1996) Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann. Neurol., 39, 343-351.
19. Medja, F., Allouche, S., Frachon, P., Jardel, C., Malgat, M., Mousson de Camaret, B., Slama, A., Lunardi, J., Mazat, J.P. and Lombès, A. (2009) Development and implementation of standardized respiratory chain spectrophotometric assays for clinical diagnosis. Mitochondrion, 9, 331-339.