Pyruvate dehydrogenase deficiency: Identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation

European Journal of Pediatrics

Volumn 168, Issue 1, 2009, Pages 17-22

  João Silva, Maria ^a   Pinheiro, Ana ^a   Eusébio, Filomena ^b   Gaspar, Ana ^b   Tavares De Almeida, Isabel ^a   Rivera, Isabel ^a  

^a RESEARCH INSTITUTE FOR MEDICINES IMED ULISBOA   (Portugal)

^b HOSPITAL DE SANTA MARIA   (Portugal)

Author keywords

Amino acid supplementation; Conformational diseases; Hyperlacticacidemia; PDHA1 mutation; Pyruvate dehydrogenase deficiency

Indexed keywords

ARGININE ASPARTATE; ASPARTEN; PYRUVATE DEHYDROGENASE COMPLEX; UNCLASSIFIED DRUG;

ALPHA CHAIN; AMINO ACID SUPPLEMENTATION; ARTICLE; BLOOD ANALYSIS; CASE REPORT; CHILD; DIET SUPPLEMENTATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE; GENE IDENTIFICATION; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNOBLOTTING; MALE; METABOLIC PARAMETERS; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; PDHA1 GENE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE DEFICIENCY; SINGLE STRAND CONFORMATION POLYMORPHISM;

ARGININE; ASPARTIC ACID; BLOTTING, WESTERN; CHILD; DNA MUTATIONAL ANALYSIS; GENE EXPRESSION; HUMANS; MALE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PYRUVATE DEHYDROGENASE (LIPOAMIDE); PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE;

EID: 57049133599     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-008-0700-7     Document Type: Article

References (31)

1. MD Amaral 2006 Therapy through chaperones; sense or antisense? Cystic fibrosis as a model disease J Inher Metab Dis 29 477 487
2. T Arakawa K Tsumoto 2003 The effects of arginine on refolding of aggregated proteins: not facilitate refolding, but suppress aggregation Biochem Biophys Res Commun 304 148 152
3. D Arora N Khanna 1996 Methods for increasing the yield of properly folded recombinant human gamma interferon from inclusion bodies J Biotechnol 52 127 133
4. BM Baynes DIC Wang BL Trout 2005 Role of arginine in the stabilization of proteins against aggregation Biochem 44 4919 4925
5. A Boyum 1968 Isolation of mononuclear cells and granulocytes from human blood J Clin Lab Invest 97 77 89
6. RM Brown RA Head II Boubriak JV Leonard NH Thomas GK Brown 2004 Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency Hum Genet 115 123 127
7. JP Clot C Benelli B de Gallé MC Postel-Vinay D Durand B Debuquois 1988 Effects of growth hormone on Pyruvate Dehydrogenase activity in intact rat liver and in isolated hepatocytes: comparison with insulin Metabolism 37 1101 1106
8. T Fujii MB Garcia Alvarez KF Sheu PJ Kranz-Eble DC De Vivo 1996 Pyruvate Dehydrogenase Deficiency: the relation of the E1 alpha mutation ton the E1 beta subunit deficiency Pediatr Neurol 14 328 334
9. T Fujii RN Van Coster SE Old R Medori S Winter RM Gubits PM Matthews RM Brown GK Brown H-HM Dahl DC De Vivo 1994 Pyruvate Dehydrogenase Deficiency: Molecular basis for intrafamilial heterogeneity Ann Neurol 36 83 89
10. RA Head RM Brown Z Zolkipli R Shahdadpuri MD King PT Clayton GK Brown 2005 Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency Ann Neurol 58 234 241
11. SJ Jacobia LG Korotchkina MS Patel 2001 Differential effects of two mutations at Arginine-234 in the a subunit of human pyruvate dehydrogenase Arch Biochem Biophys 395 121 128
12. UK Laemmli 1970 Cleavage of structural proteins during assembly of the head of bacteriophage T4 Nature 227 680 685
13. W Lissens L De Meirleir S Seneca C Benelli C Marsac BT Poll-The P Briones W Ruitenbeek O van Diggelen D Chaigne V Ramaekers I Liebaers 1996 Mutation analysis of the Pyruvate Dehydrogenase E1α gene in eight patients with a Pyruvate Dehydrogenase Complex deficiency Hum Mut 7 46 51
14. W Lissens L De Meirleir S Seneca I Liebaers GK Brown RM Brown M Ito E Naito Y Kuroda DS Kerr ID Wexler MS Patel BH Robinson A Seyda 2000 Mutations in the X-linked Pyruvate Dehydrogenase (E1) α sub-unit (PDHA-1) in patients with a Pyruvate Dehydrogenase Complex deficiency Hum Mut 15 209 219
15. W Lissens P Vreken PG Barth FA Wijburg W Ruitenbeek RJA Wanders S Seneca I Liebaers L De Meirleir 1999 Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1a gene Eur J Pediatr 158 853 857
16. TC Liu H Kim C Arizmendi A Kitano MS Patel 1993 Identification of two missense mutations in a dihydrolipoamide dehydrogenase deficient patient Proc Natl Acad Sci USA 90 5186 5190
17. MC Maj JM Cameron BH Robinson 2006 Pyruvate dehydrogenase phosphatase deficiency: orphan disease or an under-diagnosed condition? Mol Cell Endocrinol 249 1 9
18. MC Maj N MacKay V Levandovskiy J Addis ER Baumgartner MR Baumgartner BH Robinson JM Cameron 2005 Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation J Clin Endocrinol Metab 90 4101 4107
19. C Marsac C Benelli I Desguerre M Diry F Fouque L De Meirleir G Ponsot S Seneca F Poggi JM Saudubray 1997 Biochemical and genetics studies of four patients with pyruvate dehydrogenase E1a deficiency Hum Genet 99 785 792
20. J Matsuda M Ito E Naito Y Yokota Y Kuroda 1995 DNA diagnosis of Pyruvate Dehydrogenase deficiency in female patients with congenital lactic acidaemia J Inher Metab Dis 18 534 546
21. K Okajima LM Warman LC Byrne DS Kerr 2006 Somatic mosaicism in a male with an exon skipping in PDHA1 of the pyruvate dehydrogenase complex results in a milder phenotype Mol Genet Metab 87 162 168
22. M Orita H Iwahana H Kanazawa K Hayashi T Sekiya 1989 Detection of polymorfisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms Proc Natl Acad Sci USA 86 2766 2770
23. LJ Otero RM Brown GK Brown 1998 Arginine 302 mutations in the Pyruvate Dehydrogenase E1α subunit gene: identification of further patients and in vitro demonstration of pathogenicity Hum Mut 12 114 121
24. BH Robinson N MacKay R Petrova-Benedict I Ozalp PW Coskun T Stacpoole 1990 Defects in the E2 lipoyl transacetilase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic academia J Clin Invest 85 1821 1824
25. Robinson BH (2001) Lactic acidemia: disorders of pyruvate carboxylase, and pyruvate dehydrogenase. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill Inc, New York, pp 2275-2295
26. S Sato CL Ward ME Krouse JJ Wine RR Kopito 1996 Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation J Biol Chem 271 635 638
27. JR Seals L Jarett 1980 Activation of pyruvate dehydrogenase by direct addition of insulin to an isolated plasma membrane/mitochondria mixture evidence for generation of insulin's second messenger in a subcellular system Proc Natl Acad Sci USA 77 77 81
28. M Suenaga H Ohmae S Tsuji T Itoh O Nishimura 1998 Renaturation of recombinant human neutrophin-3 from inclusion bodies using a suppressor agent of aggregation Biotechnol Appl Biochem 28 119 124
29. H Towbin Staehlint J Gordon 1979 Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications Proc Natl Acad Sci USA 76 4350 4354
30. K Tsumoto M Umetsu I Kumagai D Ejima JS Philo T Arakawa 2004 Role of arginine in protein refolding, solubilization, and purification Biotechnol Prog 20 1301 1308
31. XM Zhang XT Wang H Yue SW Leung PH Thibodeau PJ Thomas SE Guggino 2003 Organic solutes rescue the functional defect in delta F508cystic fibrosis transmembrane conductance regulator J Biol Chem 278 51232 51242