Two novel mutations in the SLC25A4 gene in a patient with mitochondrial myopathy

JIMD Reports

Volumn 22, Issue , 2015, Pages 39-45

  Korver Keularts I M L W ^a   de Visser, M ^b   Bakker, H D ^b   Wanders, R J A ^b   Vansenne, F ^b   Scholte, H R ^c   Dorland, L ^a   Nicolaes, G A F ^d   Spaapen, L M J ^a   Smeets, H J M ^a   Hendrickx, A T M ^a   van den Bosch, B J C ^a  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

Hypertrophic cardiomyopathy; Mitochondrial myopathy; Novel mutations; SLC25A4

Indexed keywords

EID: 84945257657     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2015_409     Document Type: Chapter

References (25)

1. Adrian GS, McCammon MT, Montgomery DL, Douglas MG (1986) Sequences required for delivery and localization of the ADP/ATP translocator to the mitochondrial inner membrane. Mol Cell Biol 6:626–634
2. Altshuler D, Durbin RM, Abecasis GR et al (2010) A map of human genome variation from population-scale sequencing. Nature 467:1061–1073
3. Bakker HD, Scholte HR, van den Bogert C et al (1993a) Deficiency of the adenine nucleotide translocator in muscle of a patient with myopathy and lactic acidosis: a new mitochondrial defect. Pediatr Res 33:412–417
4. Bakker HD, Scholte HR, van den Bogert C et al (1993b) Adenine nucleotide translocator deficiency in muscle: potential therapeutic value of vitamin E. J Inherit Metab Dis 16:548–552
5. Cozens AL, Runswick MJ, Walker JE (1989) DNA sequences of two expressed nuclear genes for human mitochondrial ADP/ATP translocase. J Mol Biol 206:261–280
6. Deschauer M, Hudson G, Müuller T, Taylor RW, Chinnery PF, Zierz S (2005) A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia. Neuromuscul Disord 15:311–315
7. Dolce V, Scarcia P, Iacopetta D, Palmieri F (2005) A fourth ADP/ATP carrier isoform in man: identification, bacterial expression, functional characterization and tissue distribution. FEBS Lett 579:633–637
8. Echaniz-Laguna A, Chassagne M, Ceresuela J et al (2012) Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy. J Med Genet 49:146–150
9. Fiore C, Trezeguet V, Le Saux A et al (1998) The mitochondrial ADP/ ATP carrier: structural, physiological and pathological aspects. Biochimie 80:137–150
10. Graham BH, Waymire KG, Cottrell B, Trounce IA, MacGregor GR, Wallace DC (1997) A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/ muscle isoform of the adenine nucleotide translocator. Nat Genet 16:226–234
11. Heidküamper D, Müuller V, Nelson DR, Klingenberg M (1996) Probing the role of positive residues in the ADP/ATP carrier from yeast. The effect of six arginine mutations on transport and the four ATP versus ADP exchange modes. Biochemistry 35:16144–16152
12. Houldsworth J, Attardi G (1988) Two distinct genes for ADP/ATP translocase are expressed at the mRNA level in adult human liver. Proc Natl Acad Sci USA 85:377–381
13. Kaukonen J, Juselius JK, Tiranti V et al (2000) Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 289:782–785
14. Klingenberg M (1981) Membrane protein oligomeric structure and transport function. Nature 290:449–454
15. Klingenberg M (1989) Molecular aspects of the adenine nucleotide carrier from mitochondria. Arch Biochem Biophys 270:1–14
16. Komaki H, Fukazawa T, Houzen H, Yoshida K, Nonaka I, Goto Y (2002) A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions. Ann Neurol 51:645–648
17. Ku DH, Kagan J, Chen ST, Chang CD, Baserga R, Wurzel J (1990) The human fibroblast adenine nucleotide translocator gene. Molecular cloning and sequence. J Biol Chem 265:16060–16063
18. Li K, Warner CK, Hodge JA et al (1989) A human muscle adenine nucleotide translocator gene has four exons, is located on chromosome 4, and is differentially expressed. J Biol Chem 264:13998–14004
19. Napoli L, Bordoni A, Zeviani M et al (2001) A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family. Neurology 57:2295–2298
20. Narula N, Zaragoza MV, Sengupta PP et al (2011) Adenine nucleotide translocase 1 deficiency results in dilated cardiomyopathy with defects in myocardial mechanics, histopathological alterations, and activation of apoptosis. JACC Cardiovasc Imaging 4:1–10
21. Neckelmann N, Li K, Wade RP, Shuster R, Wallace DC (1987) cDNA sequence of a human skeletal muscle ADP/ATP translocator: lack of a leader peptide, divergence from a fibroblast translocator cDNA, an coevolution with mitochondrial DNA genes. Proc Natl Acad Sci USA 84:7580–7584
22. Nelson DR, Lawson JE, Klingenberg M, Douglas MG (1993) Site-directed mutagenesis of the yeast mitochondrial ADP/ATP translocator. Six arginines and one lysine are essential. J Mol Biol 230:1159–1170
23. Palmieri L, Alberio S, Pisano I et al (2005) Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy. Hum Mol Genet 14:3079–3088
24. Pebay-Peyroula E, Dahout-Gonzalez C, Kahn R, Trézéguet V, Lauquin GJ, Brandolin G (2003) Structure of mitochondrial ADP/ATP carrier in complex with carboxyatractyloside. Nature 426:39–44
25. Stepien G, Torroni A, Chung AB, Hodge JA, Wallace DC (1992) Differential expression of adenine nucleotide translocator iso-forms in mammalian tissues and during muscle cell differentiation. J Biol Chem 267:14592–14597