Transition m.3308T>C in the ND1 gene is associated with left ventricular hypertrabeculation/noncompaction

Cardiology

Volumn 118, Issue 3, 2011, Pages 153-158

  Zarrouk Mahjoub, Sinda ^a   Mehri, Sounira ^a   Ourda, Fatma ^b   Boussaada, Rafik ^b   Mechmeche, Rachid ^b   Arab, Saïda Ben ^a   Finsterer, Josef ^c,d  

^a UNIVERSITY OF TUNIS EL MANAR   (Tunisia)

^b LA RABTA HOSPITAL   (Tunisia)

^c DANUBE UNIVERSITY KREMS   (Austria)

^d NONE   (Austria)

Author keywords

Cardiac involvement; Cardiomyopathy; Mitochondrial disorder; Mitochondrial genetics

Indexed keywords

CYCLOOXYGENASE 2; METHIONINE; MITOCHONDRIAL DNA; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); RNA; THREONINE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; CARDIOMEGALY; CASE REPORT; CORONARY SINUS; EBSTEIN ANOMALY; ECHOCARDIOGRAPHY; FAMILY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE; HEART DISEASE; HEART LEFT VENTRICLE DILATATION; HEART LEFT VENTRICLE HYPERTRABECULATION; HUMAN; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SUPERIOR CAVA VEIN; SYSTOLIC HEART MURMUR; TRICUSPID VALVE REGURGITATION; VENTRICULAR NONCOMPACTION;

EID: 79957550474     PISSN: 00086312     EISSN: 14219751     Source Type: Journal    
DOI: 10.1159/000328002     Document Type: Article

References (21)

1. Chin TK, Perloff JK, Williams RG, Jue K, Mohrmann R: Isolated noncompaction of left ventricular myocardium. A study of eight cases. Circulation 1990; 82: 507-513. (Pubitemid 20257829)
2. Ichida F, Hamamichi Y, Miyawaki T, Ono Y, Kamiya T, Akagi T, Hamada H, Hirose O, Isobe T, Yamada K, Kurotobi S, Mito H, Mi-yake T, Murakami Y, Nishi T, Shinohara M, Seguchi M, Tashiro S, Tomimatsu H: Clini-cal features of isolated noncompaction of the ventricular myocardium: long-term clinical course, hemodynamic properties, and genet-ic background. J Am Coll Cardiol 1999; 34: 233-240.
3. Chen Q, Chen H, Zheng D, Kuang C, Fang H, Zou B, Zhu W, Bu G, Jin T, Wang Z, Zhang X, Chen J, Field LJ, Rubart M, Shou W, Chen Y: Smad7 is required for the development and function of the heart. J Biol Chem 2009; 2;284: 292-300.
4. Finsterer J: Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hyper-trabeculation/noncompaction. Pediatr Car-diol 2009; 30:659-681.
5. Xing Y, Ichida F, Matsuoka T, Isobe T, Ike-moto Y, Higaki T, Tsuji T, Haneda N, Ku-wabara A, Chen R, Futatani T, Tsubata S, Watanabe S, Watanabe K, Hirono K, Uese K, Miyawaki T, Bowles KR, Bowles NE, Towbin JA: Genetic analysis in patients with left ven-tricular noncompaction and evidence for ge-netic heterogeneity. Mol Genet Metab 2006; 88: 71-77.
6. Sternberg D, Danan C, Lombès A, Laforêt P, Girodon E, Goossens M, Amselem S: Ex-haustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders. Hum Mol Genet 1998; 7:33-42. (Pubitemid 28040735)
7. Ramensky V, Bork P, Sunyaev S: Human non-synonymous SNPs: server and survey. Nucleic Acids Res 2002; 30:3894-3900. (Pubitemid 35012462)
8. Anderson S, Bankier AT, Barrell BG, et al: Sequence and organization of the human mi-tochondrial genome. Nature 1981; 290:457-465. (Pubitemid 11159074)
9. Rocha H, Flores C, Campos Y, Arenas J, Vilarinho L, Santorelli FM, Torroni A: About the 'Pathological' role of the mtDNA T3308C mutation ellipsis. Am J Hum Genet 1999; 65: 1457-1459. (Pubitemid 30460398)
10. Fearnley IM, Walker JE: Conservation of se-quences of subunits of mitochondrial com-plex I and their relationships with other pro-teins. Biochim Biophys Acta 1992; 1140:105-134.
11. Guan MX, Enriquez JA, Fischel-Ghodsian N, Puranam RS, Lin CP, Maw MA, Attardi G: The deafness-associated mitochondrial DNA mutation at position 7445, which af-fects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydroge-nase subunit ND6 gene expression. Mol Cell Biol 1998; 18: 5868-5879. (Pubitemid 28450538)
12. Fischel-Ghodsian N, Kopke RD, Ge X: Mito-chondrial dysfunction in hearing loss. Mito-chondrion 2004; 4:675-694.
13. Li X, Fischel-Ghodsian N, Schwartz F, Yan Q, Friedman RA, Guan MX: Biochemi-cal characterization of the mitochondrial tRNASer(UCN) T7511C mutation associat-ed with nonsyndromic deafness. Nucleic Ac-ids Res 2004; 32:867-877. (Pubitemid 38864675)
14. Sue CM, Tanji K, Hadjigeorgiou G, Andreu AL, Nishino I, Krishna S, Bruno C, Hirano M, Shanske S, Bonilla E, Fischel-Ghodsian N, DiMauro S, Friedman R: Maternally in-herited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNASer(UCN) gene. Neurology 1999: 52: 1905-1908. (Pubitemid 29260910)
15. Chapiro E, Feldmann D, Denoyelle F, Stern-berg D, Jardel C, Eliot MM, Bouccara D, Weil D, Garabedian EN, Coudere R, Petit C, Mar-lin S: Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evi-dence for a modulatory factor. Eur J Hum Genet 2002; 10: 851-856. (Pubitemid 36054567)
16. Scaglia F, Towbin JA, Craigen WJ, Belmont JW, Smith EO, Neish SR, Ware SM, Hunter JV, Fernbach SD, Vladutiu GD, Wong LJ, Vo-gel H: Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mi-tochondrial disease. Pediatrics 2004; 114: 925-931. (Pubitemid 41529754)
17. Stöllberger C, Finsterer J, Blazek G: Left ven-tricular hypertrabeculation/noncompaction and association with additional cardiac ab-normalities and neuromuscular disorders. Am J Cardiol 2002; 90:899-902.
18. Pignatelli RH, McMahon CJ, Dreyer WJ, Denfield SW, Price J, Belmont JW, Craigen WJ, Wu J, El Said H, Bezold LI, Clunie S, Fernbach S, Bowles NE, Towbin JA: Clinical characterization of left ventricular noncom-paction in children: a relatively common form of cardiomyopathy. Circulation 2003; 108:2672-2678. (Pubitemid 37466810)
19. Finsterer J, Schoser B, Stöllberger C: Myoad-enylate-deaminase gene mutation associat-ed with left ventricular hypertrabeculation/ non-compaction. Acta Cardiol 2004; 59: 453-456. (Pubitemid 39056134)
20. Finsterer J, Stöllberger C, Schubert B: Ac-quired left ventricular hypertrabeculation/ noncompaction in mitochondriopathy. Car-diology 2004; 102: 228-230. (Pubitemid 39370538)
21. Tang S, Batra A, Zhang Y, Ebenroth ES, Huang T: Left ventricular noncompaction is associated with mutations in the mitochon-drial genome. Mitochondrion 2010; 10: 350-357.