NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

American Journal of Human Genetics

Volumn 99, Issue 4, 2016, Pages 894-902

  Kremer, Laura S ^a,b   Danhauser, Katharina ^c   Herebian, Diran ^c   Petkovic Ramadža, Danijela ^d   Piekutowska Abramczuk, Dorota ^e   Seibt, Annette ^c   Müller Felber, Wolfgang ^f   Haack, Tobias B ^a,b   Płoski, Rafał ^g   Lohmeier, Klaus ^c   Schneider, Dominik ^h   Klee, Dirk ⁱ   Rokicki, Dariusz ^e   Mayatepek, Ertan ^c   Strom, Tim M ^a,b   Meitinger, Thomas ^a,b,j   Klopstock, Thomas ^j,k,l   Pronicka, Ewa ^e   Mayr, Johannes A ^m   Baric, Ivo ^d,n   Distelmaier, Felix ^c   Prokisch, Holger ^a,b   more..

^a TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^b INSTITUTE OF EPIDEMIOLOGY   (Germany)

^c UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^d KBC Zagreb   (Croatia)

^e CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^f UNIVERSITY OF MUNICH   (Germany)

^g MEDICAL UNIVERSITY OF WARSAW   (Poland)

^h Pediatric Clinic   (Germany)

ⁱ HEINRICH HEINE UNIVERSITY   (Germany)

^j Germany 3 Munich Cluster for Systems Neurology   (Germany)

^k LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^l GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^m PARACELSUS MEDICAL UNIVERSITY   (Austria)

ⁿ UNIVERSITY OF ZAGREB   (Croatia)

more..

Author keywords

energy metabolism; metabolite repair; mitochondrial; NAD(P)HX

Indexed keywords

HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE (NADPH); 6-HYDROXY-1,4,5,6-TETRAHYDRONICOTINAMIDE ADENINE DINUCLEOTIDE; APOA1BP PROTEIN, HUMAN; CARRIER PROTEIN; ISOMERASE; NAXE PROTEIN, HUMAN; NICOTINAMIDE ADENINE DINUCLEOTIDE;

ARTICLE; ATAXIA; BRAIN EDEMA; CHILD; CHILDHOOD DISEASE; EXOME; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOME ANALYSIS; HUMAN; LOSS OF FUNCTION MUTATION; METABOLIC DISORDER; MUTATIONAL ANALYSIS; NAXE GENE; NEUROLOGIC DISEASE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SKIN DEFECT; SPINAL CORD DISEASE; ANALOGS AND DERIVATIVES; CASE REPORT; CELL LINE; CONGENITAL SKIN DISEASE; FATALITY; FEMALE; FIBROBLAST; GENETICS; INFANT; MALE; METABOLISM; MUTATION; NEUROIMAGING; PATHOLOGY; PRESCHOOL CHILD;

CARRIER PROTEINS; CELL LINE; CHILD, PRESCHOOL; FATAL OUTCOME; FEMALE; FIBROBLASTS; HUMANS; INFANT; MALE; METABOLIC DISEASES; MUTATION; NAD; NERVOUS SYSTEM DISEASES; NEUROIMAGING; RACEMASES AND EPIMERASES; SKIN ABNORMALITIES;

EID: 84991716893     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.07.018     Document Type: Article

References (19)

1. 1 Linster, C.L., Van Schaftingen, E., Hanson, A.D., Metabolite damage and its repair or pre-emption. Nat. Chem. Biol. 9 (2013), 72–80.
2. 2 Yoshida, A., Dave, V., Inhibition of NADP-dependent dehydrogenases by modified products of NADPH. Arch. Biochem. Biophys. 169 (1975), 298–303.
3. 3 Marbaix, A.Y., Tyteca, D., Niehaus, T.D., Hanson, A.D., Linster, C.L., Van Schaftingen, E., Occurrence and subcellular distribution of the NADPHX repair system in mammals. Biochem. J. 460 (2014), 49–58.
4. 4 Marbaix, A.Y., Noël, G., Detroux, A.M., Vertommen, D., Van Schaftingen, E., Linster, C.L., Extremely conserved ATP- or ADP-dependent enzymatic system for nicotinamide nucleotide repair. J. Biol. Chem. 286 (2011), 41246–41252.
5. 5 Giaever, G., Chu, A.M., Ni, L., Connelly, C., Riles, L., Véronneau, S., Dow, S., Lucau-Danila, A., Anderson, K., André, B., et al. Functional profiling of the Saccharomyces cerevisiae genome. Nature 418 (2002), 387–391.
6. 6 Niehaus, T.D., Richardson, L.G., Gidda, S.K., ElBadawi-Sidhu, M., Meissen, J.K., Mullen, R.T., Fiehn, O., Hanson, A.D., Plants utilize a highly conserved system for repair of NADH and NADPH hydrates. Plant Physiol. 165 (2014), 52–61.
7. 7 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. Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. J. Med. Genet. 49 (2012), 277–283.
8. 8 Haack, T.B., Kopajtich, R., Freisinger, P., Wieland, T., Rorbach, J., Nicholls, T.J., Baruffini, E., Walther, A., Danhauser, K., Zimmermann, F.A., et al. ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. Am. J. Hum. Genet. 93 (2013), 211–223.
9. 9 Li, H., Durbin, R., Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25 (2009), 1754–1760.
10. 10 Elstner, M., Andreoli, C., Ahting, U., Tetko, I., Klopstock, T., Meitinger, T., Prokisch, H., MitoP2: an integrative tool for the analysis of the mitochondrial proteome. Mol. Biotechnol. 40 (2008), 306–315.
11. 11 Ploski, R., Pollak, A., Müller, S., Franaszczyk, M., Michalak, E., Kosinska, J., Stawinski, P., Spiewak, M., Seggewiss, H., Bilinska, Z.T., Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?. Circ. Res. 114 (2014), e2–e5.
12. 12 Kranendijk, M., Struys, E.A., van Schaftingen, E., Gibson, K.M., Kanhai, W.A., van der Knaap, M.S., Amiel, J., Buist, N.R., Das, A.M., de Klerk, J.B., et al. IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science, 330, 2010, 336.
13. 13 Prabhakar, P., Laboy, J.I., Wang, J., Budker, T., Din, Z.Z., Chobanian, M., Fahien, L.A., Effect of NADH-X on cytosolic glycerol-3-phosphate dehydrogenase. Arch. Biochem. Biophys. 360 (1998), 195–205.
14. 14 Hegyi, J., Schwartz, R.A., Hegyi, V., Pellagra: dermatitis, dementia, and diarrhea. Int. J. Dermatol. 43 (2004), 1–5.
15. 15 Baron, D.N., Dent, C.E., Harris, H., Hart, E.W., Jepson, J.B., Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria, and other bizarre biochemical features. Lancet 271 (1956), 421–428.
16. 16 Kleta, R., Romeo, E., Ristic, Z., Ohura, T., Stuart, C., Arcos-Burgos, M., Dave, M.H., Wagner, C.A., Camargo, S.R., Inoue, S., et al. Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. Nat. Genet. 36 (2004), 999–1002.
17. 17 Freundlich, E., Statter, M., Yatziv, S., Familial pellagra-like skin rash with neurological manifestations. Arch. Dis. Child. 56 (1981), 146–148.
18. 18 Salih, M.A., Bender, D.A., McCreanor, G.M., Lethal familial pellagra-like skin lesion associated with neurologic and developmental impairment and the development of cataracts. Pediatrics 76 (1985), 787–793.
19. 19 Spiegel, R., Shaag, A., Shalev, S., Elpeleg, O., Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy. Neurogenetics 17 (2016), 187–190.