Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4

American Journal of Human Genetics

Volumn 93, Issue 5, 2013, Pages 906-914

  Hildick Smith, Gordon J ^a,k   Cooney, Jeffrey D ^a,l   Garone, Caterina ^b   Kremer, Laura S ^c,d   Haack, Tobias B ^c,d   Thon, Jonathan N ^a   Miyata, Non ^e   Lieber, Daniel S ^f   Calvo, Sarah E ^f   Akman, H Orhan ^b   Yien, Yvette Y ^a   Huston, Nicholas C ^a   Branco, Diana S ^a,m   Shah, Dhvanit I ^a   Freedman, Matthew L ^f   Koehler, Carla M ^e   Italiano, Joseph E ^a   Merkenschlager, Andreas ^g   Beblo, Skadi ^g   Strom, Tim M ^c,d   Meitinger, Thomas ^c,d   Freisinger, Peter ^h   Donati, M Alice ⁱ   Prokisch, Holger ^c,d   Mootha, Vamsi K ^f   DiMauro, Salvatore ^b   Paw, Barry H ^a,f,j   more..

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b NewYork Presbyterian Hospital   (United States)

^c TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^d INSTITUTE OF EPIDEMIOLOGY   (Germany)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f HARVARD MEDICAL SCHOOL   (United States)

^g UNIVERSITY HOSPITAL LEIPZIG   (Germany)

^h Klinikum Reutlingen   (Germany)

ⁱ UNIVERSITY OF FLORENCE   (Italy)

^j BOSTON CHILDREN S HOSPITAL   (United States)

^k WEILL CORNELL MEDICAL COLLEGE   (United States)

^l UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^m UNIVERSITY OF CAMPINAS   (Brazil)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ASCORBIC ACID; CARNITINE; FAT DROPLET; LACTIC ACID; METHYLMALONIC ACID; MITOCHONDRIAL PROTEIN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); RIBOFLAVIN; SIDEROFLEXIN 4; THIAMINE; UBIDECARENONE; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; BIRTH WEIGHT; CASE REPORT; CHILD; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DYSMETRIA; ERYTHROCYTE VOLUME; EVOKED VISUAL RESPONSE; FEMALE; GENE MUTATION; GENETIC DISORDER; HUMAN; INTELLECTUAL IMPAIRMENT; INTRAUTERINE GROWTH RETARDATION; KETOGENIC DIET; LACTATE BLOOD LEVEL; LANGUAGE DELAY; MACROCYTIC ANEMIA; MEAN CORPUSCULAR VOLUME; MUSCLE BIOPSY; OLIGOHYDRAMNIOS; PRESCHOOL CHILD; PRIORITY JOURNAL; TREMOR; UNDERWEIGHT; VISUAL IMPAIRMENT;

DANIO RERIO;

EID: 84890230767     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.09.011     Document Type: Article

References (43)

1. Vafai, S.B., and Mootha, V.K. (2012). Mitochondrial disorders as windows into an ancient organelle. Nature 491, 374-383.
2. Aslinia, F., Mazza, J.J., and Yale, S.H. (2006). Megaloblastic anemia and other causes of macrocytosis. Clin. Med. Res. 4, 236-241.
3. DiMauro, S., Servidei, S., Zeviani, M., DiRocco, M., DeVivo, D.C., DiDonato, S., Uziel, G., Berry, K., Hoganson, G., Johnsen, S.D., et al. (1987). Cytochrome c oxidase deficiency in Leigh syndrome. Ann. Neurol. 22, 498-506.
4. Yu, H.C., Sloan, J.L., Scharer, G., Brebner, A., Quintana, A.M., Achilly, N.P., Manoli, I., Coughlin, C.R., 2nd, Geiger, E.A., Schneck, U., et al. (2013). An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1. Am. J. Hum. Genet. 93, 506-514.
5. Gherasim, C., Lofgren, M., and Banerjee, R. (2013). Navigating the B(12) road: assimilation, delivery, and disorders of cobalamin. J. Biol. Chem. 288, 13186-13193.
6. Nyhan, W.L. (2005). Disorders of purine and pyrimidine metabolism. Mol. Genet. Metab. 86, 25-33.
7. Lieber, D.S., Calvo, S.E., Shanahan, K., Slate, N.G., Liu, S., Hershman, S.G., Gold, N.B., Chapman, B.A., Thorburn, D.R., Berry, G.T., et al. (2013). Targeted exome sequencing of suspected mitochondrial disorders. Neurology 80, 1762-1770.
8. Calvo, S.E., Compton, A.G., Hershman, S.G., Lim, S.C., Lieber, D.S., Tucker, E.J., Laskowski, A., Garone, C., Liu, S., Jaffe, D.B., et al. (2012). Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci. Transl. Med. 4, 18-10.
9. Mayr, J.A., Haack, T.B., Graf, E., Zimmermann, F.A., Wieland, T., Haberberger, B., Superti-Furga, A., Kirschner, J., Steinmann, B., Baumgartner, M.R., et al. (2012). Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am. J. Hum. Genet. 90, 314-320.
10. Haack, T.B., Haberberger, B., Frisch, E.M.,Wieland, T., Iuso, A., Gorza, M., Strecker, V., Graf, E., Mayr, J.A., Herberg, U., et al. (2012). Molecular diagnosis in mitochondrial complex 1 deficiency using exome sequencing. J. Med. Genet. 49, 277-283.
11. Isken, O., and Maquat, L.E. (2008). The multiple lives of NMD factors: balancing roles in gene and genome regulation. Nat. Rev. Genet. 9, 699-712.
12. Paw, B.H., Tieu, P.T., Kaback, M.M., Lim, J., and Neufeld, E.F. (1990). Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program. Am. J. Hum. Genet. 47, 698-705.
13. Farr, C.J., Saiki, R.K., Erlich, H.A., McCormick, F., and Marshall, C.J. (1988). Analysis of RAS gene mutations in acute myeloid leukemia by polymerase chain reaction and oligonucleotide probes. Proc. Natl. Acad. Sci. USA 85, 1629-1633.
14. Paw, B.H., Moskowitz, S.M., Uhrhammer, N., Wright, N., Kaback, M.M., and Neufeld, E.F. (1990). JuvenileGM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase. J. Biol. Chem. 265, 9452-9457.
15. Pagliarini, D.J., Calvo, S.E., Chang, B., Sheth, S.A., Vafai, S.B., Ong, S.E., Walford, G.A., Sugiana, C., Boneh, A., Chen, W.K., et al. (2008). A mitochondrial protein compendium elucidates complex 1 disease biology. Cell 134, 112-123.
16. Chen,W., Paradkar, P.N., Li, L., Pierce, E.L., Langer, N.B., Takahashi- Makise, N., Hyde, B.B., Shirihai, O.S., Ward, D.M., Kaplan, J., and Paw, B.H. (2009). Abcb10 physically interacts with mitoferrin-1 (Slc25a37) to enhance its stability and function in the erythroid mitochondria. Proc. Natl. Acad. Sci. USA 106, 16263-16268.
17. Fay, F.S., Taneja, K.L., Shenoy, S., Lifshitz, L., and Singer, R.H. (1997). Quantitative digital analysis of diffuse and concentrated nuclear distributions of nascent transcripts, SC35 and poly(A). Exp. Cell Res. 231, 27-37.
18. Chen, H.W., Rainey, R.N., Balatoni, C.E., Dawson, D.W., Troke, J.J., Wasiak, S., Hong, J.S., McBride, H.M., Koehler, C.M., Teitell, M.A., and French, S.W. (2006). Mammalian polynucleotide phosphorylase is an intermembrane space Nase that maintains mitochondrial homeostasis. Mol. Cell. Biol. 26, 8475-8487.
19. Lieschke, G.J., and Currie, P.D. (2007). Animal models of human disease: zebrafish swim into view. Nat. Rev. Genet. 8, 353-367.
20. Cooney, J.D., Hildick-Smith, G.J., Shafizadeh, E., McBride, P.F., Carroll, K.J., Anderson, H., Shaw, G.C., Tamplin, O.J., Branco, D.S., Dalton, A.J., et al. (2013). Teleost growth factor independence (gfi) genes differentially regulate successive waves of hematopoiesis. Dev. Biol. 373, 431-441.
21. Amigo, J.D., Yu, M., Troadec, M.B., Gwynn, B., Cooney, J.D., Lambert, A.J., Chi, N.C., Weiss, M.J., Peters, L.L., Kaplan, J., et al. (2011). Identification of distal cis- regulatory elements at mouse mitoferrin loci using zebrafish transgenesis. Mol. Cell. Biol. 31, 1344-1356.
22. Thon, J.N., Macleod, H., Begonja, A.J., Zhu, J., Lee, K.C., Mogilner, A., Hartwig, J.H., and Italiano, J.E., Jr. (2012). Microtubule and cortical forces determine platelet size during vascular platelet production. Nat Commun 3, 852.
23. Pase, L., Layton, J.E., Kloosterman,W.P., Carradice, D.,Waterhouse, P.M., and Lieschke, G.J. (2009). miR-451 regulates zebrafish erythroid maturation in vivo via its target gata2. Blood 113, 1794-1804.
24. Zhao, Y., Qin,W., Zhang, J.P., Hu, Z.Y., Tong, J.W., Ding, C.B., Peng, Z.G., Zhao, L.X., Song, D.Q., and Jiang, J.D. (2013). HCV IRES-mediated core expression in zebrafish. PLoS ONE 8, e56985.
25. Ma, Y.,Wu, M., Li, D., Li, X.Q., Li, P., Zhao, J., Luo, M.N., Guo, C.L., Gao, X.B., Lu, C.L., and Ma, X. (2012). Embryonic developmental toxicity of selenite in zebrafish (Danio rerio) and prevention with folic acid. Food Chem. Toxicol. 50, 2854-2863.
26. Amigo, J.D., Ackermann, G.E., Cope, J.J., Yu, M., Cooney, J.D., Ma, D., Langer, N.B., Shafizadeh, E., Shaw, G.C., Horsely, W., et al. (2009). The role and regulation of friend of GATA-1 (FOG-1) during blood development in the zebrafish. Blood 114, 4654-4663.
27. Bergmann, A.K., Campagna, D.R., McLoughlin, E.M., Agarwal, S., Fleming, M.D., Bottomley, S.S., and Neufeld, E.J. (2010). Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. Pediatr. Blood Cancer 54, 273-278.
28. Ganis, J.J., Hsia, N., Trompouki, E., de Jong, J.L., DiBiase, A., Lambert, J.S., Jia, Z., Sabo, P.J., Weaver, M., Sandstrom, R., et al. (2012). Zebrafish globin switching occurs in two developmental stages and is controlled by the LCR. Dev. Biol. 366, 185-194.
29. Yu, D., dos Santos, C.O., Zhao, G., Jiang, J., Amigo, J.D., Khandros, E., Dore, L.C., Yao, Y., D'Souza, J., Zhang, Z., et al. (2010). miR-451 protects against erythroid oxidant stress by repressing 14-3-3zeta. Genes Dev. 24, 1620-1633.
30. Blanc, L., Ciciotte, S.L., Gwynn, B., Hildick-Smith, G.J., Pierce, E.L., Soltis, K.A., Cooney, J.D., Paw, B.H., and Peters, L.L. (2012). Critical function for the Ras-GTPase activating protein RASA3 in vertebrate erythropoiesis and megakaryopoiesis. Proc. Natl. Acad. Sci. USA 109, 12099-12104.
31. Shah, D.I., Takahashi-Makise, N., Cooney, J.D., Li, L., Schultz, I.J., Pierce, E.L., Narla, A., Seguin, A., Hattangadi, S.M., Medlock, A.E., et al. (2012). Mitochondrial Atpif1 regulates haem synthesis in developing erythroblasts. Nature 491, 608-612.
32. Kornblum, C., Nicholls, T.J., Haack, T.B., Schöler, S., Peeva, V., Danhauser, K., Hallmann, K., Zsurka, G., Rorbach, J., Iuso, A., et al. (2013). Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat. Genet. 45, 214-219.
33. Finsterer, J. (2007). Hematological manifestations of primary mitochondrial disorders. Acta Haematol. 118, 88-98.
34. Riley, L.G., Cooper, S., Hickey, P., Rudinger-Thirion, J., McKenzie, M., Compton, A., Lim, S.C., Thorburn, D., Ryan, M.T., Giegé, R., et al. (2010). Mutation of the mitochondrial tyrosyl- tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia - MLASA syndrome. Am. J. Hum. Genet. 87, 52-59.
35. Fellman, V. (2002). The GRACILE syndrome, a neonatal lethal metabolic disorder with iron overload. Blood Cells Mol. Dis. 29, 444-450.
36. Fleming, M.D., Campagna, D.R., Haslett, J.N., Trenor, C.C., 3rd, and Andrews, N.C. (2001). A mutation in a mitochondrial transmembrane protein is responsible for the pleiotropic hematological and skeletal phenotype of flexed-tail (f/f) mice. Genes Dev. 15, 652-657.
37. Hegde, S., Lenox, L.E., Lariviere, A., Porayette, P., Perry, J.M., Yon, M., and Paulson, R.F. (2007). An intronic sequence mutated in flexed-tail mice regulates splicing of Smad5. Mamm. Genome 18, 852-860.
38. Miyake, S., Yamashita, T., Taniguchi, M., Tamatani, M., Sato, K., and Tohyama, M. (2002). Identification and characterization of a novel mitochondrial tricarboxylate carrier. Biochem. Biophys. Res. Commun. 295, 463-468.
39. Soranzo, N., Spector, T.D., Mangino, M., Ku?hnel, B., Rendon, A., Teumer, A., Willenborg, C., Wright, B., Chen, L., Li, M., et al. (2009). A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat. Genet. 41, 1182-1190.
40. van der Harst, P., Zhang, W., Mateo Leach, I., Rendon, A., Verweij, N., Sehmi, J., Paul, D.S., Elling, U., Allayee, H., Li, X., et al. (2012). Seventy-five genetic loci influencing the human red blood cell. Nature 492, 369-375.
41. Ganesh, S.K., Zakai, N.A., van Rooij, F.J., Soranzo, N., Smith, A.V., Nalls, M.A., Chen, M.H., Kottgen, A., Glazer, N.L., Dehghan, A., et al. (2009). Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat. Genet. 41, 1191-1198.
42. Foo, J.N., Liu, J.J., and Tan, E.K. (2012). Whole-genome and whole-exome sequencing in neurological diseases. Nat Rev Neurol 8, 508-517.
43. Bras, J., Guerreiro, R., and Hardy, J. (2012). Use of nextgeneration sequencing and other whole-genome strategies to dissect neurological disease. Nat. Rev. Neurosci. 13, 453-464.