Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1802, Issue 11, 2010, Pages 959-967

  Jorge Finnigan, Ana ^a   Gámez, Alejandra ^a   Pérez, Belén ^a   Ugarte, Magdalena ^a   Richard, Eva ^a  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

Apoptosis; Homocystinuria; Methylmalonic aciduria; PCR array; ROS; Stress kinase

Indexed keywords

HOMOCYSTEINE; METHYLMALONIC ACID; REACTIVE OXYGEN METABOLITE; STRESS ACTIVATED PROTEIN KINASE; SYNAPTOPHYSIN;

ACIDURIA; APOPTOSIS; ARTICLE; CONTROLLED STUDY; FIBROBLAST; GENE EXPRESSION; GENE ISOLATION; GENE OVEREXPRESSION; HOMOCYSTINURIA; HUMAN; HUMAN TISSUE; NUCLEOTIDE SEQUENCE; OXIDATIVE STRESS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN FUNCTION; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION;

AMINO ACID METABOLISM, INBORN ERRORS; APOPTOSIS; APOPTOSIS REGULATORY PROTEINS; BLOTTING, WESTERN; CARRIER PROTEINS; CELL LINE; FIBROBLASTS; GENE EXPRESSION PROFILING; HOMOCYSTINURIA; HUMANS; JNK MITOGEN-ACTIVATED PROTEIN KINASES; METHYLMALONIC ACID; MUTATION; P38 MITOGEN-ACTIVATED PROTEIN KINASES; PHOSPHOPROTEINS; PHOSPHORYLATION; REACTIVE OXYGEN SPECIES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 77956652392     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbadis.2010.08.002     Document Type: Article

References (55)

1. Halliwell B., Whiteman M. Measuring reactive species and oxidative damage in vivo and in cell culture: how should you do it and what do the results mean?. Br. J. Pharmacol. 2004, 142:231-255.
2. Halliwell B. Free radicals, antioxidants, and human disease: curiosity cause or consequence?. Lancet 1994, 344:721-724.
3. Le Bras M., Clement M.V., Pervaiz S., Brenner C. Reactive oxygen species and the mitochondrial signaling pathway of cell death. Histol. Histopathol. 2005, 20:205-219.
4. Shivapurkar N., Reddy J., Chaudhary P.M., Gazdar A.F. Apoptosis and lung cancer: a review. J. Cell. Biochem. 2003, 88:885-898.
5. Hengartner M.O. The biochemistry of apoptosis. Nature 2000, 407:770-776.
6. Zhang H., Xu Q., Krajewski S., Krajewska M., Xie Z., Fuess S., Kitada S., Pawlowski K., Godzik A., Reed J.C. BAR: an apoptosis regulator at the intersection of caspases and Bcl-2 family proteins. Proc. Natl. Acad. Sci. USA 2000, 97:2597-2602.
7. Andersen J.K. Oxidative stress in neurodegeneration: cause or consequence?. Nat. Med. 2004, 10:S18-S25. (Suppl).
8. Trushina E., McMurray C.T. Oxidative stress and mitochondrial dysfunction in neurodegenerative diseases. Neuroscience 2007, 145:1233-1248.
9. DiMauro S., Schon E.A. Mitochondrial disorders in the nervous system. Annu. Rev. Neurosci. 2008, 31:91-123.
10. Loh K.P., Huang S.H., De Silva R., Tan B.K., Zhu Y.Z. Oxidative stress: apoptosis in neuronal injury. Curr. Alzheimer Res. 2006, 3:327-337.
11. Beal M.F. Mitochondria take center stage in aging and neurodegeneration. Ann. Neurol. 2005, 58:495-505.
12. Mc Guire P.J., Parikh A., Diaz G.A. Profiling of oxidative stress in patients with inborn errors of metabolism. Mol. Genet. Metab. 2009, 98:173-180.
13. Atkuri K.R., Cowan T.M., Kwan T., Ng A., Herzenberg L.A., Herzenberg L.A., Enns G.M. Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia. Proc. Natl. Acad. Sci. USA 2009, 106:3941-3945.
14. Fenton W.A., Gravel R.A., Rosenberg L.E. Disorders of propionate and methylmalonate metabolism. The Metabolic and Molecular Bases of Inherited Disease 2001, 2165-2190. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W. Sly, D. Valle (Eds.).
15. Fowler B., Leonard J.V., Baumgartner M.R. Causes of and diagnostic approach to methylmalonic acidurias. J. Inherit. Metab. Dis. 2008, 31:350-360.
16. Dobson C.M., Wai T., Leclerc D., Kadir H., Narang M., Lerner-Ellis J.P., Hudson T.J., Rosenblatt D.S., Gravel R.A. Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. Hum. Mol. Genet. 2002, 11:3361-3369.
17. Lerner-Ellis J.P., Tirone J.C., Pawelek P.D., Dore C., Atkinson J.L., Watkins D., Morel C.F., Fujiwara T.M., Moras E., Hosack A.R., Dunbar G.V., Antonicka H., Forgetta V., Dobson C.M., Leclerc D., Gravel R.A., Shoubridge E.A., Coulton J.W., Lepage P., Rommens J.M., Morgan K., Rosenblatt D.S. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat. Genet. 2006, 38:93-100.
18. Hannibal L., Kim J., Brasch N.E., Wang S., Rosenblatt D.S., Banerjee R., Jacobsen D.W. Processing of alkylcobalamins in mammalian cells: a role for the MMACHC (cblC) gene product. Mol. Genet. Metab. 2009, 97:260-266.
19. Dionisi-Vici C., Deodato F., Roschinger W., Rhead W., Wilcken B. 'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry. J. Inherit. Metab. Dis. 2006, 29:383-389.
20. Horster F., Garbade S.F., Zwickler T., Aydin H.I., Bodamer O.A., Burlina A.B., Das A.M., De Klerk J.B., Dionisi-Vici C., Geb S., Gokcay G., Guffon N., Maier E.M., Morava E., Walter J.H., Schwahn B., Wijburg F.A., Lindner M., Grunewald S., Baumgartner M.R., Kolker S. Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters. J. Inherit. Metab. Dis. 2009, 32:630-639.
21. Kolker S., Okun J.G. Methylmalonic acid-an endogenous toxin?. Cell. Mol. Life Sci. 2005, 62:621-624.
22. Ballhausen D., Mittaz L., Boulat O., Bonafe L., Braissant O. Evidence for catabolic pathway of propionate metabolism in CNS: expression pattern of methylmalonyl-CoA mutase and propionyl-CoA carboxylase alpha-subunit in developing and adult rat brain. Neuroscience 2009, 164:578-587.
23. Richard E., Monteoliva L., Juarez S., Perez B., Desviat L.R., Ugarte M., Albar J.P. Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis. J. Proteome Res. 2006, 5:1602-1610.
24. Richard E., Alvarez-Barrientos A., Perez B., Desviat L.R., Ugarte M. Methylmalonic acidaemia leads to increased production of reactive oxygen species and induction of apoptosis through the mitochondrial/caspase pathway. J. Pathol. 2007, 213:453-461.
25. Richard E., Jorge-Finnigan A., Garcia-Villoria J., Merinero B., Desviat L.R., Gort L., Briones P., Leal F., Perez-Cerda C., Ribes A., Ugarte M., Perez B. Genetic and cellular studies of oxidative stress in methylmalonic aciduria. Hum. Mutat. 2009, 30:1558-1566.
26. Chandler R.J., Zerfas P.M., Shanske S., Sloan J., Hoffmann V., DiMauro S., Venditti C.P. Mitochondrial dysfunction in mut methylmalonic acidemia. FASEB J. 2009, 23:1252-1261.
27. Fontella F.U., Pulrolnik V., Gassen E., Wannmacher C.M., Klein A.B., Wajner M., Dutra-Filho C.S. Propionic and L-methylmalonic acids induce oxidative stress in brain of young rats. NeuroReport 2000, 11:541-544.
28. Pettenuzzo L.F., Schuck P.F., Wyse A.T., Wannmacher C.M., Dutra-Filho C.S., Netto C.A., Wajner M. Ascorbic acid prevents water maze behavioral deficits caused by early postnatal methylmalonic acid administration in the rat. Brain Res. 2003, 976:234-242.
29. Pettenuzzo L.F., Ferreira Gda C., Schmidt A.L., Dutra-Filho C.S., Wyse A.T., Wajner M. Differential inhibitory effects of methylmalonic acid on respiratory chain complex activities in rat tissues. Int. J. Dev. Neurosci. 2006, 24:45-52.
30. Quackenbush R.C., Reuther G.W., Miller J.P., Courtney K.D., Pear W.S., Pendergast A.M. Analysis of the biologic properties of p230 Bcr-Abl reveals unique and overlapping properties with the oncogenic p185 and p210 Bcr-Abl tyrosine kinases. Blood 2000, 95:2913-2921.
31. Perez-Cerda C., Merinero B., Sanz P., Jimenez A., Garcia M.J., Urbon A., Diaz Recasens J., Ramos C., Ayuso C., Ugarte M. Successful first trimester diagnosis in a pregnancy at risk for propionic acidaemia. J. Inherit. Metab. Dis. 1989, 12(Suppl 2):274-276.
32. Livak K.J., Schmittgen T.D. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 2001, 25:402-408.
33. Schmittgen T.D., Livak K.J. Analyzing real-time PCR data by the comparative C(T) method. Nat. Protoc. 2008, 3:1101-1108.
34. Rosenblatt D.S., Aspler A.L., Shevell M.I., Pletcher B.A., Fenton W.A., Seashore M.R. Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria. J. Inherit. Metab. Dis. 1997, 20:528-538.
35. Jorge-Finnigan A., Aguado C., Sanchez-Alcudia R., Abia D., Richard E., Merinero B., Gamez A., Banerjee R., Ugarte M., Perez B. Functional and structural analysis of five mutations identified in methylmalonic aciduria cbIB type. Hum. Mutat. 2010, 31:1033-1042.
36. Nicolier M., Decrion-Barthod A.Z., Launay S., Pretet J.L., Mougin C. Spatiotemporal activation of caspase-dependent and -independent pathways in staurosporine-induced apoptosis of p53wt and p53mt human cervical carcinoma cells. Biol. Cell 2009, 101:455-467.
37. Temkin V., Karin M. From death receptor to reactive oxygen species and c-Jun N-terminal protein kinase: the receptor-interacting protein 1 odyssey. Immunol. Rev. 2007, 220:8-21.
38. Kim E.K., Choi E.J. Pathological roles of MAPK signaling pathways in human diseases. Biochim. Biophys. Acta 2010, 1802:396-405.
39. Qu W., Ke H., Pi J., Broderick D., French J.E., Webber M.M., Waalkes M.P. Acquisition of apoptotic resistance in cadmium-transformed human prostate epithelial cells: Bcl-2 overexpression blocks the activation of JNK signal transduction pathway. Environ. Health Perspect. 2007, 115:1094-1100.
40. Santamaria G., Martinez-Diez M., Fabregat I., Cuezva J.M. Efficient execution of cell death in non-glycolytic cells requires the generation of ROS controlled by the activity of mitochondrial H+-ATP synthase. Carcinogenesis 2006, 27:925-935.
41. Ide T., Brown-Endres L., Chu K., Ongusaha P.P., Ohtsuka T., El-Deiry W.S., Aaronson S.A., Lee S.W. GAMT, a p53-inducible modulator of apoptosis, is critical for the adaptive response to nutrient stress. Mol. Cell 2009, 36:379-392.
42. Vander Heiden M.G., Cantley L.C., Thompson C.B. Understanding the Warburg effect: the metabolic requirements of cell proliferation. Science 2009, 324:1029-1033.
43. Olah J., Klivenyi P., Gardian G., Vecsei L., Orosz F., Kovacs G.G., Westerhoff H.V., Ovadi J. Increased glucose metabolism and ATP level in brain tissue of Huntington's disease transgenic mice. FEBS J. 2008, 275:4740-4755.
44. Lopez-Rios F., Sanchez-Arago M., Garcia-Garcia E., Ortega A.D., Berrendero J.R., Pozo-Rodriguez F., Lopez-Encuentra A., Ballestin C., Cuezva J.M. Loss of the mitochondrial bioenergetic capacity underlies the glucose avidity of carcinomas. Cancer Res. 2007, 67:9013-9017.
45. Dipple K.M., McCabe E.R. Modifier genes convert "simple" Mendelian disorders to complex traits. Mol. Genet. Metab. 2000, 71:43-50.
46. Dipple K.M., McCabe E.R. Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am. J. Hum. Genet. 2000, 66:1729-1735.
47. Dayal S., Arning E., Bottiglieri T., Boger R.H., Sigmund C.D., Faraci F.M., Lentz S.R. Cerebral vascular dysfunction mediated by superoxide in hyperhomocysteinemic mice. Stroke 2004, 35:1957-1962.
48. Faraci F.M., Lentz S.R. Hyperhomocysteinemia, oxidative stress, and cerebral vascular dysfunction. Stroke 2004, 35:345-347.
49. Kim D.J., Koh J.M., Lee O., Kim N.J., Lee Y.S., Kim Y.S., Park J.Y., Lee K.U., Kim G.S. Homocysteine enhances apoptosis in human bone marrow stromal cells. Bone 2006, 39:582-590.
50. Koh J.M., Lee Y.S., Kim Y.S., Kim D.J., Kim H.H., Park J.Y., Lee K.U., Kim G.S. Homocysteine enhances bone resorption by stimulation of osteoclast formation and activity through increased intracellular ROS generation. J. Bone Miner. Res. 2006, 21:1003-1011.
51. Morel C.F., Lerner-Ellis J.P., Rosenblatt D.S. Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations. Mol. Genet. Metab. 2006, 88:315-321.
52. Tsai A.C., Morel C.F., Scharer G., Yang M., Lerner-Ellis J.P., Rosenblatt D.S., Thomas J.A. Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance. Am. J. Med. Genet. A 2007, 143A:2430-2434.
53. van der Meer S.B., Poggi F., Spada M., Bonnefont J.P., Ogier H., Hubert P., Depondt E., Rapoport D., Rabier D., Charpentier C., et al. Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia. J. Pediatr. 1994, 125:903-908.
54. Merinero B., Perez B., Perez-Cerda C., Rincon A., Desviat L.R., Martinez M.A., Sala P.R., Garcia M.J., Aldamiz-Echevarria L., Campos J., Cornejo V., Del Toro M., Mahfoud A., Martinez-Pardo M., Parini R., Pedron C., Pena-Quintana L., Perez M., Pourfarzam M., Ugarte M. Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. J. Inherit. Metab. Dis. 2008, 31:55-66.
55. Rincon A., Aguado C., Desviat L.R., Sanchez-Alcudia R., Ugarte M., Perez B. Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA. Am. J. Hum. Genet. 2007, 81:1262-1270.