X-Linked Cardioskeletal Myopathy and Neutropenia (Barth Syndrome): An Update

American Journal of Medical Genetics

Volumn 126 A, Issue 4, 2004, Pages 349-354

  Barth, Peter G ^a,c   Valianpour, Fredoen ^a   Bowen, Valerie M ^b   Lam, Jan ^a   Duran, Marinus ^a   Vaz, Frédéric M ^a   Wanders, Ronald J A ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b Barth Syndrome Foundation   (United States)

^c EMMA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

Barth syndrome; Cardiolipin; Mitochondria; Neutropenia; TAZ gene

Indexed keywords

ARACHIDONIC ACID; CARDIOLIPIN; DOCOSAHEXAENOIC ACID; MEMBRANE LIPID;

ADOLESCENT; ADULT; BARTH SYNDROME; CARDIOMYOPATHY; CHILD; CHROMOSOME XQ; GENE; GENE MUTATION; HUMAN; INFANT; MAJOR CLINICAL STUDY; MITOCHONDRIAL MEMBRANE; NEUTROPENIA; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SURVIVAL RATE; SYNDROME DELINEATION; TAZ GENE; X CHROMOSOME LINKED DISORDER;

EID: 2142765298     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20660     Document Type: Review

References (62)

1. Adwani SS, Whitehead BF, Rees PG, Whitmore P, Fabre JW, Elliott MJ, de Leval MR. 1995. Heart transplantation for dilated cardiomyopathy. Arch Dis Child 73:447-452.
2. Adès LC, Gedeon AK, Wilson MJ, Latham M, Partington MW, Mulley JC, Nelson J, Lui K, Sillence DO. 1993. Barth syndrome: Clinical features and confirmation of gene localisation to distal Xq28. Am J Med Genet 45:327-334.
3. Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O. 2001. Type III 3-methylglutaconic aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet 69:1218-1224.
4. Barth PG, Scholte HR, Berden JA, van der Klei-van Moorsel JM, Luyt-Houwen IEM, van't Veer-Korthof ET, van der Harten JJ, Sobotka-Plojhar MA. 1983. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophilleucocytes. J Neurol Sci 62:327-355.
5. Barth PG, Van den Bogert C, Bolhuis PA, Scholte HR, van Gennip AH, Schutgens RBH, Ketel AG. 1996. X-linked cardioskeletal myopathy and neutrepenia (Barth syndrome): Respiratory chain abnormalities in cultured fibroblasts. J Inher Metab Dis 19:157-160.
6. Barth PG, Wanders RJA, Vreken P, Janssen EAM, Lam J, Baas F. 1999. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060). J Inher Metab Dis 22:555-567.
7. Bione S, Tamanini F, Maestrini E, Tribioli C, Poustka A, Torri G, Rivella S, Toniolo D. 1993. Transcriptional organization of a 450-kb region of the human chromosome in Xq28. Proc Natl Acad Sci USA 90:10977-10981.
8. Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D. 1996. A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat Genet 12:385-389.
9. Bleyl SB, Mumford BR, BrownHarrison MC, Pagotto LT, Carey JC, Pysher TJ, Ward K, Chin TK. 1997a. Xq28-linked noncompaction of the left ventricular myocardium: Prenatal diagnosis and pathologic analysis of affected individuals. Am J Med Genet 72:257-265.
10. Bleyl SB, Mumford BR, Thompson V, Carey JC, Pysher TJ, Chin TK, Ward K. 1997b. Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth Syndrome. Am J Hum Genet 61:868-872.
11. Bolhuis PA, Hensels GW, Hulsebos TJM, Baas F, Barth PG. 1991. Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28. Am J Hum Genet 48:481-485.
12. Cantlay AM, Shokrollahi K, Allen JT, Lunt PW, Newbury-Ecob RA, Steward CG. 1999. Genetic analysis of the G4.5 gene in families with suspected Barth syndrome. J Pediatr 135:311-315.
13. Cardonick EH, Kuhlman K, Ganz E, Pagotto LT. 1997. Prenatal clinical expression of 3-methylglutaconic aciduria-Barth-syndrome. Prenat Diagn 17:983-988.
14. Carlson SE, Werkman SH, Rhodes PG, Tolley EA. 1993. Visual-acuity development in healthy preterm infants-Effect of marine-oil supplementation. Am J Clin Nutr 58:35-42.
15. Chin TK. 1997. Xq28-linked noncompacton of the left ventricular myocardium: Prenatal diagnosis and pathologic analysis of affected individuals. Am J Med Genet 72:257-265.
16. Chin ThK, Perloff JK, Williams RG, Jue K, Mohrmann R. 1990. Isolated noncompaction of left ventricular myocardium. A study of eight cases. Circulation 82:507-513.
17. Christodoulou J, Mcinnes RR, Jay V, Wilson G, Becker LE, Lehotay DC, Platt BA, Bridge PJ, Robinson BH, Clarke JTR. 1994. Barth syndrome - Clinical observations and genetic linkage studies. Am J Med Genet 50:255-264.
18. D'Adamo P, Fassone L, Gedeon A, Janssen EAM, Bione S, Bolhuis PA, Barth PG, Wilson M, Haan E, Orstavik KH, Patton MA, Green AJ, Zammarchi E, Donati MA, Toniolo D. 1997. The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. Am J Hum Genet 61:862-867.
19. Farooqui AA, Horrocks LA, Farooqui T. 2000. Glycerophospholipids in brain: Their metabolism, incorporation into membranes, functions, and involvement in neurological disorders. Chem Phys Lipids 106: 1-29.
20. Figarella-Branger D, Pellisier JF, Scheiner C, Wernert F, Desnuelle C. 1992. Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement. J Neurol Sci 108:105-113.
21. Fixler DE, Cole RB, Paul MH, Lev M, Girod DA. 1970. Familial occurrence of the contracted form of endocardial fibroelastosis. Am J Cardiol 26:208-213.
22. Gedeon AK, Wilson MJ, Colley AC, Sillence DO, Mulley JC. 1995. X linked fatal cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome. J Med Genet 32:383-388.
23. Gibson KM, Sherwood WG, Hoffmann GF, Stumpf DA, Dianzani I, Schutgens RBH, Barth PG, Weismann UD, Bachmann C, Schrynemackers-Pitance P, Verloes A, Narisawa K, Mino M, Ohya N, Kelley RI. 1991 Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria. J Pediatr 118:885-890.
24. Gibson KM, Bennett MJ, Mize CE, Jakobs C, Rotig A, Munnich A, Lichter-Konecki U, Trefz FK. 1992. 3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects. J Pediatr 121: 940-942.
25. Gomez B Jr, Robinson NC. 1999. Phosholipase digestion of bound cardiolipin reversibly inactivates bovine cytochrome bc1. Biochemistry 38:9031-9038.
26. Guntheroth W, Komarniski C, Atkinson W, Fligner CL. 2002. Criterion for fetal primary spongiform cardiomyopathy: Restrictive pathophysiology. Obstet Gynecol 99:882-885.
27. Hatch GM. 1998. Cardiolipin - Biosynthesis, remodeling and trafficking in the heart and mammalian cells. Int J Mol Med 1:33-41.
28. Holme E, Greter J, Jacobson C-E, Larsson N-G, Lindstedt S, Nilsson KO, Oldfors A, Tulinius M. 1993. Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria. Pediatr Res 32:731-735.
29. Ichida F, Tsubata S, Bowles KR, Haneda N, Uese K, Miyawaki T, Dreyer WJ, Messina J, Li H, Bowles NE, Towbin JA. 2001. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation 103:1256-1263.
30. Ino T, Sherwood WG, Cutz E, Benson LN, Rose V, Freedom RM. 1988. Dilated cardiomyopathy with neutropenia, short stature, and abnormal carnitine metabolism. J Pediatr 113:511-514.
31. Johnston J, Kelley RI, Feigenbaum A, Cox GF, Iyer GS, Funanage VL, Proujansky R. 1997. Mutation characterization and genotype-phenotype correlation in Barth syndrome. Am J Hum Genet 61:1053-1058.
32. Kelley RI, Cheatham JP, Clark BJ, Nigro MA, Powell BR, Sherwood GW, Sladky JT. 1991. X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. J Pediatr 119: 738-747.
33. Koshkin V, Greenberg M. 2000. Oxidative phosphorylation in cardiolipin-lacking yeast mitochondria. Biochemical Journal 347(Pt 3):687-691.
34. Lindenbaum RH, Andrews PS, Khan ASSI. 1973. Two cases of endocardial fibroelastosis - Possible X-linked determination. Br Heart J 35:38-40.
35. Lutter M, Fang M, Luo X, Nishijima M, Xie XS, Wang YD. 2000. Cardiolipin provides specificity for targeting of tBid to mitochondria. Nat Cell Biol 2:754-756.
36. Lutter M, Perkins GA, Wang X. 2001. The pro-apoptotic Bcl-2 family member tBid localizes to mitochondrial contact sites. BMC Cell Biol 2:22-31.
37. Maron BJ, Shen WK, Link MS, Epstein AE, Almquist AK, Daubert JP, Bardy GH, Favale S, Rea RF, Boriani G, Estes NA 3rd, Spirito P. 2000. Efficacy of implantable cardioverter-defibrillators for the prevention of sudden death in patients with hypertrophic cardiomyopathy. N Engl J Med 342:365-373.
38. Martinez M. 1992. Abnormal profiles of polyunsaturated fatty acids in the brain, liver, kidney and retina of patients with peroxisomal disorders. Brain Res 583:171-182.
39. Martinez M, Mougan I. 1998. Fatty acid composition of human brain phospholipids during normal development. J Neurochem 71:2528-2533.
40. Mazzocco MM, Kelley RI. 2001. Preliminary evidence for a cognitive phenotype in Barth syndrome. Am J Med Genet 102:372-378.
41. Neustein HB, Lurie PR, Dahms B, Takahashi M. 1979. An X-linked recessive cardiomyopathy with abnormal mitochondria. Pediatrics 64:24-29.
42. Neuwald AF. 1997. Barth syndrome may be due to an acyltransferase deficiency. Curr Biol 7:465-466.
43. Ohtsuka T, Nishijima M, Suzuki K, Akamatsu Y. 1993. Mitochondrial dysfunction of a cultured Chinese hamster ovary cell mutant deficient in cardiolipin. J Biol Chem 268:22914-22919.
44. Ørstavik KH, Ørstavik RE, Naumova AK, D'Adamo P, Gedeon A, Bolhuis PA, Barth PG, Toniolo D. 1998. X chromosome inactivation in carriers of Barth-syndrome. Am J Hum Genet 63:1457-1463.
45. Östman-Smith I, Brown G, Johnson A, Land JM. 1994. Dilated cardiomyopathy due to type II X-linked 3-methylglutaconic aciduria: Successful treatment with pantothenic acid. Br Heart J 72:349-353.
46. Ott M, Robertson JD, Gogvadze V, Zhivotovsky B, Orrenius S. 2002. Cytochrome c release from mitochondria proceeds by a two-step process. Proc Natl Acad Sci USA 99:1259-1263.
47. Paradies G, Petrosillo G, Pistolese M, Ruggiero FM. 2000. The effect of reactive oxygen species generated from the mitochondrial electron transport chain on the cytochrome c oxidase activity and on the cardiolipin content in bovine heart submitochondrial particles. FEBS Lett 466:323-326.
48. Paradies G, Petrosillo G, Pistolese M, Ruggiero FM. 2001. Reactive oxygen species generated by the mitochondrial respiratory chain affect the complex III activity via cardiolipin peroxidation in beef-heart submitochondrial particles. Mitochondrion 1:151-159.
49. Paradies G, Petrosillo G, Pistolese M, Ruggiero FM. 2002. Reactive oxygen species affect mitochondrial electron transport complex I activity through oxidative cardiolipin damage. Gene 286:135-141.
50. Ronghe MD, Foot AB, Martin R, Ashworth M, Steward CG. 2001. Non-epstein-barr virus-associated T-cell lymphoma following cardiac transplantation for Barth syndrome. Acta Paediatr 90:584-586.
51. Rost I, Duroux A, Toniolo D, Holinski-Feder E, Kozlik-Feldmann R. 2000. Barth-Syndrom. X-chromosomal-rezessiv vererbte dilatative Kardiomyopathie. Monatschr Kinderheilkd 148:246-250.
52. Schlame M, Rua D, Greenberg ML. 2000. The biosynthesis and functional role of cardiolipin. Prog Lipid Res 39:257-288.
53. Schlame M, Towbin JA, Heerdt PM, Jehle R, DiMauro S, Blanck TJ. 2002. Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome. Ann Neurol 51:634-637.
54. Taylor WA, Hatch GM. 2003. Purification and characterization of monolysocardiolipin acyltransferase from pig liver mitochondria. J Biol Chem 278:12716-12721.
55. Towbin JA, Bowles NE. 2002. The failing heart. Nature 415:227-233.
56. Valianpour F, Wanders RJA, Barth PG, Overmars H, van Gennip AH. 2002a. Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry: Application for the identification of Barth syndrome patients. Clin Chem 48:1390-1397.
57. Valianpour F, Wanders RJ, Overmars H, Vreken P, Van Gennip AH, Baas F, Plecko B, Santer R, Becker K, Barth PG. 2002b. Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): A study in cultured skin fibroblasts. J Pediatr 141: 729-733.
58. Valianpour F, Wanders RJ, Overmars H, Vaz FM, Barth PG, Van Gennip AH. 2003. Linoleic acid supplemention of Barth syndrome fibroblasts restores cardiolipin levels: Implications for treatment. J Lipid Res 44:560-566.
59. Vaz FM, Houtkooper RH, Valianpour F, Barth PG, Wanders RJA. 2003. Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism. J Biol Chem 278:43089-43094.
60. Vreken P, Valianpour F, Nijtmans LG, Grivell LA, Plecko B, Wanders RJA, Barth PG. 2000. Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome. BBRC 279:378-382.
61. Westwood M, Harris R, Burn JL, Barson AJ. 1975. Heredity in primary endocardial fibroelastosis. Br Heart J 37:1077-1084.
62. Zhang M, Mileykovskaya E, Dowhan W. 2002. Gluing the respiratory chain together: Cardiolipin is required for supercomplex formation in the inner mitochondrial membrane. J Biol Chem 277:43553-43556.