Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome

Journal of Inherited Metabolic Disease

Volumn 36, Issue 6, 2013, Pages 929-937

  Karkucinska Wieckowska, Agnieszka ^a   Trubicka, Joanna ^a   Werner, Bozena ^b   Kokoszynska, Katarzyna ^c   Pajdowska, Magdalena ^a   Pronicki, Maciej ^a   Czarnowska, Elzbieta ^a   Lebiedzinska, Magdalena ^d   Sykut Cegielska, Jolanta ^a   Ziolkowska, Lidia ^a   Jaron, Weronika ^a   Dobrzanska, Anna ^a   Ciara, Elzbieta ^a   Wieckowski, Mariusz R ^d   Pronicka, Ewa ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b MEDICAL UNIVERSITY OF WARSAW   (Poland)

^c INSTITUTE OF ONCOLOGY   (Poland)

^d NENCKI INSTITUTE OF EXPERIMENTAL BIOLOGY   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

CARDIOLIPIN; MONOLYSOCARDIOLIPIN; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; REACTIVE OXYGEN METABOLITE; UNCLASSIFIED DRUG;

ARTICLE; BARTH SYNDROME; CARDIOMYOPATHY; CASE REPORT; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ACTIVITY; FIBROBLAST; GENE; GENE MUTATION; HEART EJECTION FRACTION; HEART FAILURE; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANCY; LACTIC ACIDOSIS; MALE; MITOCHONDRIAL MEMBRANE POTENTIAL; MITRAL VALVE REGURGITATION; MUSCLE BIOPSY; PATHOGENICITY; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRESCHOOL CHILD; RESPIRATORY CHAIN; SCHOOL CHILD; SKELETAL MUSCLE; TAZ GENE; TWO DIMENSIONAL ECHOCARDIOGRAPHY; VENTRICULAR NONCOMPACTION; WESTERN BLOTTING;

BARTH SYNDROME; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; HUMANS; MALE; MEMBRANE POTENTIAL, MITOCHONDRIAL; MUSCLE, SKELETAL; SIBLINGS;

EID: 84888199297     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-013-9584-4     Document Type: Article

References (45)

1. Arnold I, Pfeiffer K et al (1998) Yeast mitochondrial F1F0-ATP synthase exist as a dimmer-specific subunits. EMBO J 17:7170-7178
2. Bancroft JD, Gamble M (2001) Theory and practice of histological techniques, 5th edn. Churchill Livingstone, Edinburgh
3. Barth PG, Scholte HR et al (1983) An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol Sci 62:327-355
4. Barth PG, Valianpour F et al (2004) X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet 126A:349-354
5. Besley GTN, Lendon M et al (1995) Mitochondrial complex deficiencies in a male with cardiomyopathy and 3-methylglutaconic aciduria. J Inherit Metab Dis 18:221-223
6. Bione S, D'Adamo P et al (1996) A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nature Genet 2:385-389
7. Brandner K, Mick DU et al (2005) Taz1 an outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes: implications for Barth syndrome. Mol Biol Cell 16:5201-5214
8. Brown DA, O'Rourke B (2010) Cardiac mitochondria and arrhythmias. Cardiovasc Res 88:241-248
9. Cantlay AM, Shokrollabi K et al (1999) Genetic analysis of the G4.5 gene in families with suspected Barth syndrome. J Pediat 135:311-315
10. Chen R, Tsuji T et al (2002) Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction. Mol Genet Metab 77:319-325
11. Chin TK, Perloff JK, Wiliams RG, Jue K, Mohrmann R (1990) Isolated noncompaction of left ventricular myocardium: A study of eight cases. Circulation 82:507-513
12. Chitayat D, Chemke J et al (1992) 3-methylglutaconic aciduria; a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4'). J Inherit Metab Dis 15:204-212
13. Christodoulou J, McInnes RR et al (1994) Barth syndrome; clinical observations and genetic linkage studies. Am J Med Genet 50:255-264
14. Claypool SM (2009) Cardiolipin, a critical determinant of mitochondrial carrier protein assembly and function. Biochim Biophys Acta 1788:2059-2068
15. Engberding R, Yelbuz TM, Breithardt (2007) Isolated noncompaction of the left ventricular myocardium. A review of the literature two decades after the initial case description. Clin Res Cardiol 96:481-488
16. Haines TH (2009) A new look at cardiolipin. Bioch Biophys Acta 1788:1997-2002
17. Hanke SP, Gardner AB et al (2012) Left ventricular noncompaction cardiomyopathy in Barth syndrome: An example of an undulating cardiac phenotype necessitating mechanical circulatory support as a bridge to transplantation. Pediatr Cardiol. doi: 10.1007/s00246-012-0258-z
18. Houtkooper RH, Rodenburg RJ (2009a) Cardiolipin and monosylocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome. Analyt Biochem 387:230-237
19. Houtkooper RH, Turkenburg M (2009b) The enigmatic role of tafazzin in cardiolipin metabolism. Biochim Biophys Acta 1788:2003-2014
20. Ischida F, Hamamichi Y et al (1990) Clinical features of isolated noncompaction of the ventricular myocardium: long term clinical course, hemodynamic properties, and genetic background. J Am Coll Cardiol 34:233-240
21. Jenni R, Oechslin E et al (2001) Echocardiographic and pathoanatomical characteristics of isolated left ventricular noncompaction: a step towards classification as a distinct cardiomyopathy. Heart 86:666-671
22. Johnston J, Kelley RI et al (1997) Mutation characterization and genotype phenotype correlation in Barth syndrome. Am J Hum Genet 61:1053-1058
23. Karczmarewicz E, Bielecka L et al (1997) Analytical reliability of spectrophotometric analysis of the activity of mitochondrial respiratory chain complexes in muscle homogenates (in Polish). Diagn Lab 33:493-503
24. Karkucinska-Wieckowska A, Lebiedzinska M et al (2011) Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria). Folia Neuropathol 49:56-63
25. Kelley RI, Clark BJ et al (1991) X-linked cardiomyopathy, neutropenia, growth retardation, and 3-methylglutaconic aciduria. J Pediat 119:738-745
26. Kuijpers TW, Maianski NA et al (2004) Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis. Blood 103:3915-3923
27. Lamari F, Mochel F et al (2012) Disorders of phospholipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases. J Inherit Metab Dis doi: 10.1007/s10545-012-9509-7
28. Lebiedzinska M, Karkucinska-Wieckowska A et al (2010) Oxidative stress-dependent p66Shc phosphorylation in skin fibroblasts of children with mitochondrial disorders. Biochim Biophys Acta - Bioenergetics 1797:952-960
29. Ostman-Smith I, Brown G et al (1994) Dilated cardiomyopathy due to type II X-linked 3-methylglutaconic aciduria: successful treatment with pantothenic acid. Brit Heart J 73:349-353
30. Pronicki M, Matyja E et al (2008) Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease. J Clin Pathol 61:460-466
31. Pronicki M, Kowalski P et al (2010) A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency. Eur J Paediatr Neurol 14:253-260
32. Saleeb SF, Margossian R et al (2012) Reproducibility of echocardiographic diagnosis of left ventricular noncompaction. J Am Soc Echocardiogr 25:194-202
33. Schagger H, Pfeiffer K (2000) Supercomplexes in the respiratory chains in yeast and mammal mitochondria. EMBO J 19:1777-1783
34. Schmidt MR, Birkebaek N et al (2004) Barth syndrome without 3-methylglutaconic aciduria. Acta Paediatr 93:419-429
35. Spencer CT, Byrne BJ et al (2005) Ventricular arrhythmia in the X- linked cardiomyopathy Barth syndrome. Pediatr Cardiol 26:632-637
36. Spencer CT, Bryant RM et al (2006) Cardiac and clinical phenotype in Barth syndrome. Pediatrics 118:e337-e346
37. Sperl W, Jesina P et al (2006) Deficiency of mitochondrial synthase of nuclear genetic origin. Neuromuscul Dis 16:821-829
38. Steward CG, Newbury-Ecob RA et al (2010) Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth. Prenat Diagn 30:970-976
39. Stollberger C, Gerecke B, Finsterer J, Engberding R (2011) Refinement of echocardiographic criteria for left ventricular noncompaction. Int J Cardiol. doi: 10.1016/j.ijcard.2011.08.845
40. Sweeney RT, Davis GJ et al (2008) Cardiomyopathy of unknown etiology: Barth syndrome unrecognized. Congenit Heart Dis 3:443-448
41. Van Coster R, Smet J et al (2001) Blue native polyacrylamide gel electrophoresis: a powerful tool in diagnosis of oxidative phosphorylation defects. Pediatr Res 50:658-665
42. Vrecken P, Valianpour F et al (2000) Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome. Biochim Biophys Res Comun 27:378-382
43. Werner B, Trubicka J et al (2011) Clinical and diagnostic aspects of Barth syndrome (X-linked cardiomyopathy). Kardiologia Polska 69:1177-1180
44. Wortmann SB, Kluijtmans LA et al (2010) The 3-methylglutaconic acidurias: what's new? J Inherit Metab Dis doi: 10.1007/s10545-010-9210-7
45. Xu Y, Sutachan JJ et al (2005) Characterization of lymphoblast mitochondria from patients with Barth syndrome. Lab Invest 85:823-830