Blood glutathione decrease in subjects carrying lamin A/C gene mutations is an early marker of cardiac involvement

Neuromuscular Disorders

Volumn 22, Issue 3, 2012, Pages 252-257

  Meune, Christophe ^a   Khouzami, Lara ^b,c   Wahbi, Karim ^a,d   Caramelle, Philippe ^b,c   Decostre, Valérie ^e,f   Bonne, Gisèle ^d,e,f   Pecker, Françoise ^b,c,g  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b INSERM U955   (France)

^c UNIVERSITÉ PARIS EST CRÉTEIL   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e Groupe Hospitalier Pitié Salpêtrière   (France)

^f SORBONNE UNIVERSITÉ   (France)

^g HENRI MONDOR HOSPITAL   (France)

Author keywords

Genetic cardiomyopathy; Heart failure; Laminopathy; Left ventricular dysfunction

Indexed keywords

AMINO TERMINAL PRO BRAIN NATRIURETIC PEPTIDE; GLUTATHIONE; LAMIN A; LAMIN C; TUMOR NECROSIS FACTOR RECEPTOR 1;

ADULT; ARTICLE; BLOOD LEVEL; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; ECHOCARDIOGRAPHY; FEMALE; GENE; GENE MUTATION; GENETIC MARKER; HEART CONTRACTION; HEART DISEASE; HEART LEFT VENTRICLE CONTRACTILITY; HEART LEFT VENTRICLE EJECTION FRACTION; HEART RIGHT VENTRICLE CONTRACTILITY; HUMAN; LMNA GENE; MALE; MUSCULAR DYSTROPHY; OBSERVATIONAL STUDY; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; RECEIVER OPERATING CHARACTERISTIC; RELIABILITY; RETROSPECTIVE STUDY; SENSITIVITY AND SPECIFICITY; TISSUE DOPPLER IMAGING;

ADOLESCENT; ADULT; COHORT STUDIES; CROSS-OVER STUDIES; ECHOCARDIOGRAPHY; ENZYME-LINKED IMMUNOSORBENT ASSAY; FAMILY HEALTH; FEMALE; GLUTATHIONE; HEART DISEASES; HUMANS; LAMIN TYPE A; MALE; MIDDLE AGED; MUTATION, MISSENSE; RECEPTORS, TUMOR NECROSIS FACTOR, TYPE I; RETROSPECTIVE STUDIES; ROC CURVE; STATISTICS, NONPARAMETRIC; STROKE VOLUME; YOUNG ADULT;

EID: 84858076999     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2011.09.005     Document Type: Article

References (36)

1. Broers J.L., Ramaekers F.C., Bonne G., Yaou R.B., Hutchison C.J. Nuclear lamins: laminopathies and their role in premature ageing. Physiol Rev 2006, 86:967-1008.
2. Bonne G., Di Barletta M.R., Varnous S., et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999, 21:285-288.
3. Fatkin D., MacRae C., Sasaki T., et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med 1999, 341:1715-1724.
4. Muchir A., Bonne G., van der Kooi A.J., et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 2000, 9:1453-1459.
5. Meune C., Van Berlo J.H., Anselme F., et al. Primary prevention of sudden death in patients with lamin A/C gene mutations. N Engl J Med 2006, 354:209-210.
6. Worman H.J., Bonne G. " Laminopathies": a wide spectrum of human diseases. Exp Cell Res 2007, 313:2121-2133.
7. Pasotti M., Klersy C., Pilotto A., et al. Long-term outcome and risk stratification in dilated cardiolaminopathies. J Am Coll Cardiol 2008, 52:1250-1260.
8. van Berlo J.H., de Voogt W.G., van der Kooi A.J., et al. Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?. J Mol Med 2005, 83:79-83.
9. Meune C., Wahbi K., Gobeaux C., et al. N-terminal Pro brain natriuretic paptide is a reliable biomarker of reduced myocardial contractility in patients with lamin A/C mutations. Int J Cardiol 2011, 151:160-163.
10. Hershberger R.E., Siegfried J.D. Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol 2011, 57:1641-1649.
11. Hershberger R.E., Morales A., Siegfried J.D. Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals. Genet Med 2010, 12:655-667.
12. Moretti M., Merlo M., Barbati G., et al. Prognostic impact of familial screening in dilated cardiomyopathy. Eur J Heart Fail 2010, 12:922-927.
13. Yucel D., Aydogdu S., Cehreli S., et al. Increased oxidative stress in dilated cardiomyopathic heart failure. Clin Chem 1998, 44:148-154.
14. Adamy C., Mulder P., Khouzami L., et al. Neutral sphingomyelinase inhibition participates to the benefits of N-acetylcysteine treatment in post-myocardial infarction failing heart rats. J Mol Cell Cardiol 2007, 43:344-353.
15. Damy T., Kirsch M., Khouzami L., et al. Glutathione deficiency in cardiac patients is related to the functional status and structural cardiac abnormalities. PLoS ONE 2009, 4:e4871.
16. Charniot J.C., Bonnefont-Rousselot D., Marchand C., et al. Oxidative stress implication in a new phenotype of amyotrophic quadricipital syndrome with cardiac involvement due to lamin A/C mutation. Free Radic Res 2007, 41:424-431.
17. Deswal A., Petersen N.J., Feldman A.M., et al. Cytokines and cytokine receptors in advanced heart failure: an analysis of the cytokine database from the Vesnarinone trial (VEST). Circulation 2001, 103:2055-2059.
18. Ferrari R., Bachetti T., Confortini R., et al. Tumor necrosis factor soluble receptors in patients with various degrees of congestive heart failure. Circulation 1995, 92:1479-1486.
19. Gaasch W.H. Diagnosis and treatment of heart failure based on left ventricular systolic or diastolic dysfunction. JAMA 1994, 271:1276-1280.
20. De Sutter J., Van de Veire N.R., Muyldermans L., et al. Prevalence of mechanical dyssynchrony in patients with heart failure and preserved left ventricular function (a report from the Belgian Multicenter Registry on dyssynchrony). Am J Cardiol 2005, 96:1543-1548.
21. Pellerin D., Sharma R., Elliott P., Veyrat C. Tissue Doppler, strain, and strain rate echocardiography for the assessment of left and right systolic ventricular function. Heart 2003, 89(Suppl 3):iii9-iii17.
22. Yu C.M., Sanderson J.E., Marwick T.H., Oh J.K. Tissue Doppler imaging a new prognosticator for cardiovascular diseases. J Am Coll Cardiol 2007, 49:1903-1914.
23. Meluzin J., Spinarova L., Bakala J., et al. Pulsed Doppler tissue imaging of the velocity of tricuspid annular systolic motion; a new, rapid, and non-invasive method of evaluating right ventricular systolic function. Eur Heart J 2001, 22:340-348.
24. Bourraindeloup M., Adamy C., Candiani G., et al. N-acetylcysteine treatment normalizes serum tumor necrosis factor-alpha level and hinders the progression of cardiac injury in hypertensive rats. Circulation 2004, 110:2003-2009.
25. Cailleret M., Amadou A., Andrieu-Abadie N., et al. N-acetylcysteine prevents the deleterious effect of tumor necrosis factor-(alpha) on calcium transients and contraction in adult rat cardiomyocytes. Circulation 2004, 109:406-411.
26. Marsiliani D., Buccelletti F., Carroccia A., et al. Natriuretic peptides and atrial fibrillation. Eur Rev Med Pharmacol Sci 2010, 14:855-860.
27. Jourdain P., Jondeau G., Funck F., et al. Plasma brain natriuretic peptide-guided therapy to improve outcome in heart failure: the STARS-BNP Multicenter Study. J Am Coll Cardiol 2007, 49:1733-1739.
28. Rauchhaus M., Doehner W., Francis D.P., et al. Plasma cytokine parameters and mortality in patients with chronic heart failure. Circulation 2000, 102:3060-3067.
29. Tang W.H., Tong W., Troughton R.W., et al. Prognostic value and echocardiographic determinants of plasma myeloperoxidase levels in chronic heart failure. J Am Coll Cardiol 2007, 49:2364-2370.
30. Meune C., Pascal O., Becane H.M., et al. Reliable detection of early myocardial dysfunction by tissue Doppler echocardiography in Becker muscular dystrophy. Heart 2004, 90:947-948.
31. Giatrakos N., Kinali M., Stephens D., et al. Cardiac tissue velocities and strain rate in the early detection of myocardial dysfunction of asymptomatic boys with Duchenne's muscular dystrophy: relationship to clinical outcome. Heart 2006, 92:840-842.
32. Bhatia R.S., Tu J.V., Lee D.S., et al. Outcome of heart failure with preserved ejection fraction in a population-based study. N Engl J Med 2006, 355:260-269.
33. Isaac D.L. Biomarkers in heart failure management. Curr Opin Cardiol 2008, 23:127-133.
34. Lang C.A., Mills B.J., Mastropaolo W., Liu M.C. Blood glutathione decreases in chronic diseases. J Lab Clin Med 2000, 135:402-405.
35. Khouzami L., Bourin M.C., Christov C., et al. Delayed cardiomyopathy in dystrophin deficient mdx mice relies on intrinsic glutathione resource. Am J Pathol 2010, 177:1356-1364.
36. van Berlo J.H., Duboc D., Pinto Y.M. Often seen but rarely recognised: cardiac complications of lamin A/C mutations. Eur Heart J 2004, 25:812-814.