Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria

Clinical Genetics

Volumn 80, Issue 3, 2011, Pages 297-300

  Tort, F ^a,b   del Toro, M ^c   Lissens, W ^d   Montoya, J ^b,e   Fernandez Burriel M ^f   Font, A ^a,b   Bujan N ^a,b   Navarro Sastre, A ^a,b   Lopez Gallardo E ^b,e   Arranz, Ja ^c   Riudor, E ^c   Briones, P ^a,b,g   Ribes, A ^a,b  

^a HOSPITAL CLÍNIC   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^d UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^e UNIVERSITY OF ZARAGOZA   (Spain)

^f Hospital de Merida   (Spain)

^g CSIC   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE;

3 METHYLGLUTACONIC ACIDURIA; ACIDURIA; ATP12 GENE; ATP5E GENE; CASE REPORT; EXON; FEMALE; GENE MUTATION; GENETIC DISORDER; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INFANT; INTRAUTERINE GROWTH RETARDATION; INTRON; LACTIC ACIDOSIS; LETTER; MALE; NEWBORN; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TMEM70 GENE;

ACIDOSIS; ATP SYNTHETASE COMPLEXES; CARDIOMEGALY; CHILD; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; FETAL GROWTH RETARDATION; GLUTARATES; H(+)-K(+)-EXCHANGING ATPASE; HETEROZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MALE; MEMBRANE PROTEINS; MITOCHONDRIAL PROTEINS; PROTEINS; SEQUENCE DELETION;

EID: 79961114761     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01650.x     Document Type: Letter

References (13)

1. Wortmann SB, Kluijtmans LA, Engelke UF, Wevers RA, Morava E. The 3-methylglutaconic acidurias: what's new? J Inherit Metab Dis 2010: DOI: 10.1007/s10545-010-9210-7 [Epub ahead of print].
2. De Meirleir L, Seneca S, Lissens W et al. Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12. J Med Genet 2004: 41 (2): 120-124.
3. Cízková A, Stránecký V, Mayr JA et al. TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. Nat Genet 2008: 40 (11): 1288-1290.
4. Mayr JA, Havlícková V, Zimmermann F et al. Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. Hum Mol Genet 2010: 19 (17): 3430-3439.
5. Shchelochkov OA, Li FY, Wang J et al. Milder clinical course of type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70. Mol Genet Metab 2010: 101 (2-3): 282-285.
6. Gunay-Aygun M. 3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features. Mol Genet Metab 2005: 84 (1): 1-3.
7. Sperl W, Jesina P, Zeman J et al. Deficiency of mitochondrial ATP synthase of nuclear genetic origin. Neuromuscul Disord 2006: 16 (12): 821-829.
8. Wortmann SB, Rodenburg RJ, Jonckheere A et al. Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. Brain 2009: 132 (1): 136-146.
9. Schon EA, Santra S, Pallotti F, Girvin ME. Pathogenesis of primary defects in mitochondrial ATP synthesis. Semin Cell Dev Biol 2001: 12: 441-448.
10. Seneca S, Abramowicz M, Lissens W, Muller MF, Vamos E, de Meirleir L. A mitochondrial DNA microdeletion in a newborn girl with transient lactic acidosis. J Inherit Metab Dis 1996: 19: 115-118.
11. Ješina P, Tesarova M, Fornuskova D et al. Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2bp microdeletion of TA at positions 9205 and 9206. Biochem J 2004: 383: 561-571.
12. Jonckheere AI, Hogeveen M, Nijtmans LG et al. A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy. J Med Genet 2008: 45: 129-133.
13. Honzík T, Tesarová M, Mayr JA et al. Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation. Arch Dis Child 2010: 95 (4): 296-301.