A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria

BMC Veterinary Research

Volumn 8, Issue , 2012, Pages

  Farias, Fabiana H G ^a   Zeng, Rong ^a   Johnson, Gary S ^a   Shelton, G D ^b   Paquette, Dominique ^c   O'Brien, Dennis P ^a  

^a UNIVERSITY OF MISSOURI   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c Centre Veterinaire DMV   (Canada)

Author keywords

Initiator methionine codon; L 2 hydroxyglutaric aciduria; L2HGDH; Yorkshire terrier

Indexed keywords

ANIMALIA; CANIS FAMILIARIS;

ALCOHOL DEHYDROGENASE;

ANIMAL; ANIMAL DISEASE; ARTICLE; CASE REPORT; DOG; DOG DISEASE; GENE EXPRESSION REGULATION; GENETICS; MALE; METABOLIC ENCEPHALOPATHY; METABOLISM; MUTATION; PATHOLOGY;

ALCOHOL OXIDOREDUCTASES; ANIMALS; BRAIN DISEASES, METABOLIC, INBORN; DOG DISEASES; DOGS; GENE EXPRESSION REGULATION, ENZYMOLOGIC; MALE; MUTATION;

EID: 84864121842     PISSN: None     EISSN: 17466148     Source Type: Journal    
DOI: 10.1186/1746-6148-8-124     Document Type: Article

References (20)

1. Duran M, Kamerling JP, Bakker HD, van Gennip AH, Wadman SK. L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?. J Inherit Metab Dis 1980, 3:109-112. 10.1007/BF02312543, 6787330.
2. Barth PG, Hoffmann GF, Jaeken J, Lehnert W, Hanefeld F, Van Gennip AH, Duran M, Valk J, Schutgens RBH, Trefz FK, et al. L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease. Ann Neurol 1992, 32:66-71. 10.1002/ana.410320111, 1642474.
3. Topçu M, Jobard F, Halliez S, Coskun T, Yalçinkayal C, Gerceker FO, Wanders RJA, Prud'homme J-F, Lathrop M, Özguc M, Fischer J. L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. Hum Mol Genet 2004, 13:2803-2811. 10.1093/hmg/ddh300, 15385440.
4. Barbot C, Fineza I, Diogo L, Maria M, Melo J, Guimarães A, Melo Pires M, Luis Cardoso M, Vila rinho L. L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients. Brain Dev 1997, 19:268-273. 10.1016/S0387-7604(97)00574-3, 9187477.
5. D'Incerti L, Farina L, Moroni I, Uziel G, Savoiardo M. L-2-Hydroxyglutaric aciduria: MRI in seven cases. Neuroradiology 1998, 40:727-733. 10.1007/s002340050673, 9860123.
6. Rzem R, Veiga-da-Cunha M, Noël G, Goffette S, Nassogne M-C, Tabarki B, Schöller C, Marquardt T, Vikkula M, Van Schaftingen E. A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. Proc Natl Acad Sci U S A 2004, 101:16849-16854. 10.1073/pnas.0404840101, 534725, 15548604.
7. Abramson CJ, Platt SR, Jakobs C, Verhoeven NM, Dennis R, Garosi L, Shelton GD. L-2-Hydroxyglutaric aciduria in staffordshire bull terriers. J Vet Intern Med 2003, 17:551-556. 10.1111/j.1939-1676.2003.tb02477.x, 12892307.
8. Penderis J, Calvin J, Abramson C, Jakobs C, Pettitt L, Binns MM, Verhoeven NM, O'Driscoll E, Platt SR, Mellersh CS. L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model. J Med Genet 2007, 44:334-340. 10.1136/jmg.2006.042507, 2597990, 17475916.
9. Garosi LS, Penderis J, McConnell JF, Jacobs C. L-2-hydroxyglutaric aciduria in a West Highland white terrier. Vet Rec 2005, 156:145-147.
10. Hoffmann G, Aramaki S, Blum-Hoffmann E, Nyhan WL, Sweetman L. Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis. Clin Chem 1989, 35:587-595.
11. Katz ML, Khan S, Awano T, Shahid SA, Siakotos AN, Johnson GS. A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. Biochem Biophys Res Commun 2005, 327:541-547. 10.1016/j.bbrc.2004.12.038, 15629147.
12. Farias FHG, Johnson GS, Taylor JF, Giuliano E, Katz ML, Sanders DN, Schnabel RD, McKay SD, Khan S, Gharahkhani P, et al. An ADAMTS17 splice donor site mutation in dogs with primary lens luxation. Investig Ophthalmol Vis Sci 2010, 51:4716-4721.
13. Wolf A, Caliebe A, Thomas NST, Ball EV, Mort M, Stenson PD, Krawczak M, Cooper DN. Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease. Hum Mutat 2011, 32:1137-1143. 10.1002/humu.21547, 21681852.
14. Rzem R, Vincent MF, Van Schaftingen E, Veiga-da-Cunha M. L-2-Hydroxyglutaric aciduria, a defect of metabolite repair. J Inherit Metab Dis 2007, 30:681-689. 10.1007/s10545-007-0487-0, 17603759.
15. Van Schaftingen E, Rzem R, Veiga-da-Cunha M. L-2-Hydroxyglutaric aciduria, a disorder of metabolite repair. J Inherit Metab Dis 2009, 32:135-142. 10.1007/s10545-008-1042-3, 19020988.
16. Struys E, Gibson K, Jakobs C. Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid. J Inherit Metab Dis 2007, 30:690-693. 10.1007/s10545-007-0697-5, 17876720.
17. Latini A, Scussiato K, Borba Rosa R, Leipnitz G, Llesuy S, Belló-Klein A, Dutra-Filho CS, Wajner M. Induction of oxidative stress by L-2-hydroxyglutaric acid in rat brain. J Neurosci Res 2003, 74:103-110. 10.1002/jnr.10735, 13130512.
18. da Silva CG, Bueno ARF, Schuck PF, Leipnitz G, Ribeiro CAJ, Wannmacher CMD, Wyse ATS, Wajner M. l-2-Hydroxyglutaric acid inhibits mitochondrial creatine kinase activity from cerebellum of developing rats. Int J Dev Neurosci 2003, 21:217-224. 10.1016/S0736-5748(03)00035-2, 12781789.
19. Steenweg ME, Jakobs C, Errami A, van Dooren SJM, Adeva Bartolomé MT, Aerssens P, Augoustides-Savvapoulou P, Baric I, Baumann M, Bonafé L, et al. An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. Hum Mutat 2010, 31:380-390. 10.1002/humu.21197, 20052767.
20. Sanchez-Masian DAR, Mascort J, Jakobs C, Salomons G, Zamora A, Casado M, Fernandez M, Recio A, Luján Feliu-Pascual A. L-2-hydroxyglutaric aciduria in two female Yorkshire terriers. J Am Anim Hosp Assoc 2012, in press.