Gene expression profiling of mitochondrial oxidative phosphorylation (OXPHOS) complex I in Friedreich ataxia (FRDA) patients

PLoS ONE

Volumn 9, Issue 4, 2014, Pages

  Salehi, Mohammad Hossein ^a   Kamalidehghan, Behnam ^b   Houshmand, Massoud ^c,d   Yong Meng, Goh ^e   Sadeghizadeh, Majid ^a   Aryani, Omid ^d   Nafissi, Shahriar ^f  

^a TARBIAT MODARES UNIVERSITY   (Iran)

^b UNIVERSITY OF MALAYA   (Malaysia)

^c NATIONAL INSTITUTE OF GENETIC ENGINEERING AND BIOTECHNOLOGY   (Iran)

^d Special Medical Center Iran   (Iran)

^e UNIVERSITY PUTRA MALAYSIA   (Malaysia)

^f TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DOWN REGULATION; FEMALE; FRIEDREICH ATAXIA; GENE; GENE AMPLIFICATION; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; MALE; ND1 GENE; ND2 GENE; ND3 GENE; ND4 GENE; ND4L GENE; ND5 GENE; ND6 GENE; NDUFA1 GENE; NDUFA10 GENE; NDUFA12 GENE; NDUFA4 GENE; NDUFA5 GENE; NDUFB10 GENE; NDUFB11 GENE; NDUFC2 GENE; NDUFS2 GENE; NDUFV1 GENE; OXPHOS GENE; REAL TIME POLYMERASE CHAIN REACTION; ADULT; CASE CONTROL STUDY; CHILD; GENETICS; MITOCHONDRIAL GENE; PRESCHOOL CHILD; YOUNG ADULT;

REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; ELECTRON TRANSPORT COMPLEX I; FEMALE; FRIEDREICH ATAXIA; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENES, MITOCHONDRIAL; HUMANS; MALE; YOUNG ADULT;

EID: 84899045106     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0094069     Document Type: Article

References (44)

1. Campuzano V, Montermini L, Lutz Y, Cova L, Hindelang C, et al. (1997) Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Human molecular genetics 6: 1771-1780. (Pubitemid 27460350)
2. Bonawitz ND, Clayton DA, Shadel GS (2006) Initiation and beyond: multiple functions of the human mitochondrial transcription machinery. Molecular cell 24: 813-825. (Pubitemid 46001607)
3. Grossman LI, Wildman DE, Schmidt TR, Goodman M (2004) Accelerated evolution of the electron transport chain in anthropoid primates. Trends in Genetics 20: 578-585. (Pubitemid 39314566)
4. Mishmar D, Ruiz-Pesini E, Mondragon-Palomino M, Procaccio V, Gaut B, et al. (2006) Adaptive selection of mitochondrial complex I subunits during primate radiation. Gene 378: 11-18. (Pubitemid 44108461)
5. Harding AE (1981) Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain: a journal of neurology 104: 589-620.
6. Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, et al. (1996) Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271: 1423-1427. (Pubitemid 26089479)
7. Ohshima K, Montermini L, Wells RD, Pandolfo M (1998) Inhibitory Effects of Expanded GAA· TTC Triplet Repeats from Intron I of the Friedreich Ataxia Gene on Transcription and Replicationin Vivo. Journal of Biological Chemistry 273: 14588-14595. (Pubitemid 28319183)
8. Cossée M, Dürr A, Schmitt M, Dahl N, Trouillas P, et al. (1999) Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. Annals of neurology 45: 200-206. (Pubitemid 29072366)
9. Tan G, Chen L-S, Lonnerdal B, Gellera C, Taroni FA, et al. (2001) Frataxin expression rescues mitochondrial dysfunctions in FRDA cells. Human molecular genetics 10: 2099-2107. (Pubitemid 32998822)
10. Cossée M, Schmitt M, Campuzano V, Reutenauer L, Moutou C, et al. (1997) Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations. Proceedings of the National Academy of Sciences 94: 7452-7457.
11. Stemmler TL, Lesuisse E, Pain D, Dancis A (2010) Frataxin and mitochondrial FeS cluster biogenesis. Journal of Biological Chemistry 285: 26737-26743.
12. Rouault TA (2012) Biogenesis of iron-sulfur clusters in mammalian cells: new insights and relevance to human disease. Disease models & mechanisms 5: 155-164.
13. Lill R, Hoffmann B, Molik S, Pierik AJ, Rietzschel N, et al. (2012) The role of mitochondria in cellular iron-sulfur protein biogenesis and iron metabolism. Biochimica et Biophysica Acta (BBA)-Molecular Cell Research 1823: 1491-1508.
14. Rötig A, de Lonlay P, Chretien D, Foury F, Koenig M, et al. (1997) Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nature genetics 17: 215-217.
15. Zecca L, Youdim MB, Riederer P, Connor JR, Crichton RR (2004) Iron, brain ageing and neurodegenerative disorders. Nature Reviews Neuroscience 5: 863-873. (Pubitemid 39482155)
16. Mühlenhoff U, Richhardt N, Ristow M, Kispal G, Lill R (2002) The yeast frataxin homolog Yfh1p plays a specific role in the maturation of cellular Fe/S proteins. Human molecular genetics 11: 2025-2036. (Pubitemid 34919277)
17. Shoichet SA, Bäumer AT, Stamenkovic D, Sauer H, Pfeiffer AF, et al. (2002) Frataxin promotes antioxidant defense in a thiol-dependent manner resulting in diminished malignant transformation in vitro. Human molecular genetics 11: 815-821. (Pubitemid 34428649)
18. Gakh O, Park S, Liu G, Macomber L, Imlay JA, et al. (2006) Mitochondrial iron detoxification is a primary function of frataxin that limits oxidative damage and preserves cell longevity. Human molecular genetics 15: 467-479. (Pubitemid 43159898)
19. Napoli E, Taroni F, Cortopassi GA (2006) Frataxin, iron-sulfur clusters, heme, ROS, and aging. Antioxidants & redox signaling 8: 506-516.
20. Calabrese V, Lodi R, Tonon C, D'Agata V, Sapienza M, et al. (2005) Oxidative stress, mitochondrial dysfunction and cellular stress response in Friedreich's ataxia. Journal of the Neurological Sciences 233: 145-162. (Pubitemid 40812334)
21. Puccio H, Simon D, Cossée M, Criqui-Filipe P, Tiziano F, et al. (2001) Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nature genetics 27: 181-186. (Pubitemid 32157445)
22. Yang J, Cavadini P, Gellera C, Lonnerdal B, Taroni F, et al. (1999) The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis. Human molecular genetics 8: 425-430. (Pubitemid 29097330)
23. Mateo I, Llorca J, Volpini V, Corral J, Berciano J, et al. (2004) Expanded GAA repeats and clinical variation in Friedreich's ataxia. Acta neurologica scandinavica 109: 75-78. (Pubitemid 38161131)
24. Bradley J, Blake J, Chamberlain S, Thomas P, Cooper J, et al. (2000) Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia. Human molecular genetics 9: 275-282. (Pubitemid 30052751)
25. Bulteau A-L, O'Neill HA, Kennedy MC, Ikeda-Saito M, Isaya G, et al. (2004) Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity. Science 305: 242-245. (Pubitemid 38886737)
26. McKenzie M (2013) Mitochondrial DNA Mutations and Their Effects on Complex I Biogenesis: Implications for Metabolic Disease. Mitochondrial DNA, Mitochondria, Disease and Stem Cells: Springer. pp. 25-47.
27. Heidari MM, Houshmand M, Hosseinkhani S, Nafissi S, Scheiber-Mojdehkar B, et al. (2009) A novel mitochondrial heteroplasmic C13806A point mutation associated with Iranian Friedreich's ataxia. Cellular and molecular neurobiology 29: 225-233.
28. van Waveren C, Moraes CT (2008) Transcriptional co-expression and co-regulation of genes coding for components of the oxidative phosphorylation system. BMC genomics 9: 18.
29. Garbian Y, Ovadia O, Dadon S, Mishmar D (2010) Gene expression patterns of oxidative phosphorylation complex I subunits are organized in clusters. PloS one 5: e9985.
30. -ΔΔCT Method. methods 25: 402-408.
31. Stuart JM, Segal E, Koller D, Kim SK (2003) A gene-coexpression network for global discovery of conserved genetic modules. Science 302: 249-255. (Pubitemid 37248749)
32. Mootha VK, Lindgren CM, Eriksson K-F, Subramanian A, Sihag S, et al. (2003) PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nature genetics 34: 267-273. (Pubitemid 36792858)
33. Balsa E, Marco R, Perales-Clemente E, Szklarczyk R, Calvo E, et al. (2012) NDUFA4 is a subunit of complex IV of the mammalian electron transport chain. Cell Metabolism 16: 378-386.
34. Chantrel-Groussard K, Geromel V, Puccio H, Koenig M, Munnich A, et al. (2001) Disabled early recruitment of antioxidant defenses in Friedreich's ataxia. Human molecular genetics 10: 2061-2067. (Pubitemid 32998818)
35. Condò I, Ventura N, Malisan F, Rufini A, Tomassini B, et al. (2007) In vivo maturation of human frataxin. Human molecular genetics 16: 1534-1540. (Pubitemid 47050667)
36. Pianese L, Turano M, Casale ML, De Biase I, Giacchetti M, et al. (2004) Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers. Journal of Neurology, Neurosurgery & Psychiatry 75: 1061-1063. (Pubitemid 38869629)
37. Koutnikova H, Campuzano V, Foury F, Dollé P, Cazzalini O, et al. (1997) Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nature genetics 16: 345-351. (Pubitemid 27323298)
38. Puccio H, Koenig M (2000) Recent advances in the molecular pathogenesis of Friedreich ataxia. Human molecular genetics 9: 887-892. (Pubitemid 30216099)
39. Karthikeyan G, Santos JH, Graziewicz MA, Copeland WC, Isaya G, et al. (2003) Reduction in frataxin causes progressive accumulation of mitochondrial damage. Human molecular genetics 12: 3331-3342. (Pubitemid 37541078)
40. Heidari MM, Houshmand M, Hosseinkhani S, Nafissi S, Khatami M (2009) Complex I and ATP content deficiency in lymphocytes from Friedreich's ataxia. The Canadian Journal of Neurological Sciences 36: 26-31.
41. Diaz F, Kotarsky H, Fellman V, Moraes CT (2011) Mitochondrial disorders caused by mutations in respiratory chain assembly factors. Seminars in Fetal and Neonatal Medicine 16: 197-204.
42. Tucker EJ, Compton AG, Calvo SE, Thorburn DR (2011) The molecular basis of human complex I deficiency. IUBMB life 63: 669-677.
43. Asin-Cayuela J, Gustafsson CM (2007) Mitochondrial transcription and its regulation in mammalian cells. Trends in biochemical sciences 32: 111-117. (Pubitemid 46389585)
44. King MP, Attardi G (1993) Post-transcriptional regulation of the steady-state levels of mitochondrial tRNAs in HeLa cells. Journal of Biological Chemistry 268: 10228-10237. (Pubitemid 23150204)