AK2 deficiency compromises the mitochondrial energy metabolism required for differentiation of human neutrophil and lymphoid lineages

Cell Death and Disease

Volumn 6, Issue 8, 2015, Pages

  Six, E ^a,b   Lagresle Peyrou, C ^a,b   Susini, S ^a,b   De Chappedelaine, C ^a,b   Sigrist, N ^a,b   Sadek, H ^a,b   Chouteau, M ^a,b   Cagnard, N ^b   Fontenay, M ^c   Hermine, O ^b,d   Chomienne, C ^e,f   Reynier, P ^g   Fischer, A ^b,d,h   Andre Schmutz I ^a,b   Ueguen, N ^g   Cavazzana, M ^a,b,d,i  

^a IMAGINE INSTITUTE   (France)

^b INSERM US24 CNRS UMS3633   (France)

^c INSTITUT COCHIN   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e SAINT LOUIS HOSPITAL   (France)

^f INSERM   (France)

^g ANGERS UNIVERSITY HOSPITAL   (France)

^h Centre de Recherche Interdisciplinaire en Biologie   (France)

ⁱ ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADENYLATE KINASE; ADENYLATE KINASE 2; UNCLASSIFIED DRUG; ADENINE NUCLEOTIDE; CD34 ANTIGEN;

ARTICLE; BONE MARROW CELL; CELL DIFFERENTIATION; CELL LINEAGE; CELL PROLIFERATION; CELL SURVIVAL; CONTROLLED STUDY; ENERGY METABOLISM; ENZYME ACTIVITY; GENE DISRUPTION; GENE LOSS; GRANULOCYTE; HEMATOPOIESIS; HEMATOPOIETIC CELL; HL 60 CELL LINE; HUMAN; HUMAN CELL; IN VITRO STUDY; LYMPHOID CELL; MITOCHONDRIAL RESPIRATION; NEUTROPHIL; OXIDATIVE PHOSPHORYLATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; STEM CELL; DEFICIENCY; ENZYMOLOGY; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENE SILENCING; GENETICS; HL-60 CELL LINE; LEUKOPENIA; LYMPHOCYTE; METABOLISM; MITOCHONDRION; MUTATION; PATHOLOGY; PRIMARY CELL CULTURE; SEVERE COMBINED IMMUNODEFICIENCY;

ADENINE NUCLEOTIDES; ADENYLATE KINASE; ANTIGENS, CD34; CELL DIFFERENTIATION; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENE KNOCKDOWN TECHNIQUES; HL-60 CELLS; HUMANS; LEUKOPENIA; LYMPHOCYTES; MITOCHONDRIA; MUTATION; NEUTROPHILS; OXIDATIVE PHOSPHORYLATION; PRIMARY CELL CULTURE; SEVERE COMBINED IMMUNODEFICIENCY; STEM CELLS;

EID: 84989350594     PISSN: None     EISSN: 20414889     Source Type: Journal    
DOI: 10.1038/cddis.2015.211     Document Type: Article

References (29)

1. Fischer A, Le Deist F, Hacein-Bey-Abina S, Andre-Schmutz I, Basile Gde S, de Villartay JP et al. Severe combined immunodeficiency. A model disease for molecular immunology and therapy. Immunol Rev 2005; 203: 98-109.
2. Notarangelo LD. Primary immunodeficiencies. J Allergy Clin Immunol 2010; 125: S182-S194.
3. Cavazzana-Calvo M, Andre-Schmutz I, Fischer A. Haematopoietic stem cell transplantation for SCID patients: Where do we stand? Br J Haematol 2013; 160: 146-152.
4. Pannicke U, Honig M, Hess I, Friesen C, Holzmann K, Rump EM et al. Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. Nat Genet 2009; 41: 101-105.
5. Lagresle-Peyrou C, Six EM, Picard C, Rieux-Laucat F, Michel V, Ditadi A et al. Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. Nat Genet 2009; 41: 106-111.
6. Noma T. Dynamics of nucleotide metabolism as a supporter of life phenomena. J Med Invest 2005; 52: 127-136.
7. Panayiotou C, Solaroli N, Xu Y, Johansson M, Karlsson A. The characterization of human adenylate kinases 7 and 8 demonstrates differences in kinetic parameters and structural organization among the family of adenylate kinase isoenzymes. Biochem J 2011; 433: 527-534.
8. Ito K, Suda T. Metabolic requirements for the maintenance of self-renewing stem cells. Nat Rev Mol Cell Biol 2014; 15: 243-256.
9. Dzeja P, Terzic A. Adenylate kinase and AMP signaling networks: Metabolic monitoring, signal communication and body energy sensing. Int J Mol Sci 2009; 10: 1729-1772.
10. Chen RP, Liu CY, Shao HL, Zheng WW, Wang JX, Zhao XF. Adenylate kinase 2 (AK2) promotes cell proliferation in insect development. BMC Mol Biol 2012; 13: 31.
11. Lee HJ, Pyo JO, Oh Y, Kim HJ, Hong SH, Jeon YJ et al. AK2 activates a novel apoptotic pathway through formation of a complex with FADD and caspase-10. Nat Cell Biol 2007; 9: 1303-1310.
12. Kim H, Lee HJ, Oh Y, Choi SG, Hong SH, Kim HJ et al. The DUSP26 phosphatase activator adenylate kinase 2 regulates FADD phosphorylation and cell growth. Nat Commun 2014; 5: 3351.
13. Reed JC, Doctor K, Rojas A, Zapata JM, Stehlik C, Fiorentino L et al. Comparative analysis of apoptosis and inflammation genes of mice and humans. Genome Res 2003; 13: 1376-1388.
14. Zhang M, Chai YD, Brumbaugh J, Liu X, Rabii R, Feng S et al. Oral cancer cells may rewire alternative metabolic pathways to survive from siRNA silencing of metabolic enzymes. BMC Cancer 2014; 14: 223.
15. Suda T, Takubo K, Semenza GL. Metabolic regulation of hematopoietic stem cells in the hypoxic niche. Cell Stem Cell 2011; 9: 298-310.
16. Takubo K, Nagamatsu G, Kobayashi CI, Nakamura-Ishizu A, Kobayashi H, Ikeda E et al. Regulation of glycolysis by Pdk functions as a metabolic checkpoint for cell cycle quiescence in hematopoietic stem cells. Cell Stem Cell 2013; 12: 49-61.
17. Yu WM, Liu X, Shen J, Jovanovic O, Pohl EE, Gerson SL et al. Metabolic regulation by the mitochondrial phosphatase PTPMT1 is required for hematopoietic stem cell differentiation. Cell Stem Cell 2013; 12: 62-74.
18. Koopman WJ, Distelmaier F, Smeitink JA, Willems PH. OXPHOS mutations and neurodegeneration. EMBO J 2013; 32: 9-29.
19. Horiguchi T, Fuka M, Fujisawa K, Tanimura A, Miyoshi K, Murakami R et al. Adenylate kinase 2 deficiency limits survival and regulates various genes during larval stages of Drosophila melanogaster. J Med Invest 20142014; 61: 137-150.
20. Robertson NG, Lu L, Heller S, Merchant SN, Eavey RD, McKenna M et al. Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. Nat Genet 1998; 20: 299-303.
21. Koehler CM, Leuenberger D, Merchant S, Renold A, Junne T, Schatz G. Human deafness dystonia syndrome is a mitochondrial disease. Proc Natl Acad Sci USA 1999; 96: 2141-2146.
22. de Brouwer AP, van Bokhoven H, Nabuurs SB, Arts WF, Christodoulou J, Duley J. PRPS1 mutations: Four distinct syndromes and potential treatment. Am J Hum Genet 2010; 86: 506-518.
23. Pierce SB, Gersak K, Michaelson-Cohen R, Walsh T, Lee MK, Malach D et al. Mutations in LARS2, encoding mitochondrial leucyl-TRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. Am J Hum Genet 2013; 92: 614-620.
24. Tanimura A, Horiguchi T, Miyoshi K, Hagita H, Noma T. Differential expression of adenine nucleotide converting enzymes in mitochondrial intermembrane space: A potential role of adenylate kinase isozyme 2 in neutrophil differentiation. PLoS One 2014; 9: E89916.
25. Dzeja PP, Chung S, Faustino RS, Behfar A, Terzic A. Developmental enhancement of adenylate kinase-AMPK metabolic signaling axis supports stem cell cardiac differentiation. PLoS One 2011; 6: E19300.
26. Six EM, Benjelloun F, Garrigue A, Bonhomme D, Morillon E, Rouiller J et al. Cytokines and culture medium have a major impact on human in vitro T-cell differentiation. Blood Cells Mol Dis 2011; 47: 72-78.
27. Six EM, Bonhomme D, Monteiro M, Beldjord K, Jurkowska M, Cordier-Garcia C et al. A human postnatal lymphoid progenitor capable of circulating and seeding the thymus. J Exp Med 2007; 204: 3085-3093.
28. Medja F, Allouche S, Frachon P, Jardel C, Malgat M, de Camaret BM et al. Development and implementation of standardized respiratory chain spectrophotometric assays for clinical diagnosis. Mitochondrion 2009; 9: 331-339.
29. Hutter E, Renner K, Pfister G, Stöckl P, Jansen-Dürr P, Gnaiger E. Senescence-Associated changes in respiration and oxidative phosphorylation in primary human fibroblasts. Biochem J 2004; 380: 919-928.