MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Nature Genetics

Volumn 38, Issue 5, 2006, Pages 570-576

  Spinazzola, Antonella ^a   Viscomi, Carlo ^a   Fernandez Vizarra, Erika ^a   Carrara, Franco ^a   D'Adamo, Pio ^b   Calvo, Sarah ^c,d,e   Marsano, René Massimiliano ^f   Donnini, Claudia ^f   Weiher, Hans ^g   Strisciuglio, Pietro ^h   Parini, Rossella ⁱ   Sarzi, Emmanuelle ^j   Chan, Alicia ^k   DiMauro, Salvatore ^l   Rötig, Agnes ^j   Gasparini, Paolo ^b,m   Ferrero, Iliana ^f   Mootha, Vamsi K ^c,d,e   Tiranti, Valeria ^a   Zeviani, Massimo ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

^e HARVARD UNIVERSITY   (United States)

^f UNIVERSITY OF PARMA   (Italy)

^g BONN RHEIN SIEG UNIVERSITY OF APPLIED SCIENCES   (Germany)

^h UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

ⁱ UNIVERSITY OF MILANO BICOCCA   (Italy)

^j HÔPITAL NECKER ENFANTS MALADES   (France)

^k UNIVERSITY OF ALBERTA   (Canada)

^l Department of Neurology and the Taub Institute for Research on Alzheimer's Disease and the Aging Brain   (United States)

^m UNIVERSITY OF TRIESTE   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; MITOCHONDRIAL DNA; PROTEIN MPV17; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CHROMOSOME 2P; CONTROLLED STUDY; DGUOK GENE; GENE; GENE LOCUS; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; LINKAGE ANALYSIS; MITOCHONDRIAL DNA DEPLETION SYNDROME; MOUSE; MPV17; NONHUMAN; OXIDATIVE PHOSPHORYLATION; POLG GENE; PRIORITY JOURNAL; SUCLA2 GENE; TK2 GENE;

AMINO ACID SEQUENCE; ANIMALS; CELLS, CULTURED; CHROMOSOMES, HUMAN, PAIR 2; CLONING, MOLECULAR; DNA, MITOCHONDRIAL; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; HUMANS; INTRACELLULAR MEMBRANES; LIVER DISEASES; MALE; MEMBRANE PROTEINS; MICE; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SYNDROME;

ANIMALIA;

EID: 33646376465     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1765     Document Type: Article

References (30)

1. Spinazzola, A. & Zeviani, M. Disorders of nuclear-mitochondrial intergenomic signaling. Gene 354, 162-168 (2005).
2. Saada, A. et al. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat. Genet. 29, 342-344 (2001).
3. Elpeleg, O. et al. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am. J. Hum. Genet. 76, 1081-1086 (2005).
4. Mandel, H. et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat. Genet. 29, 337-341 (2001).
5. Nguyen, K.V. et al. POLG mutations in Alpers syndrome. Neurology 65, 1493-1495 (2005).
6. Ferrari, G. et al. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Brain 128, 723-731 (2005).
7. Salviati, L. et al. Mitochondrial DNA depletion and dGK gene mutations. Ann. Neurol. 52, 311-317 (2002).
8. Weiher, H., Noda, T., Gray, D.A., Sharpe, A.H. & Jaenisch, R. Transgenic mouse model of kidney disease: insertional inactivation of ubiquitously expressed gene leads to nephrotic syndrome. Cell 62, 425-434 (1990).
9. Zwacka, R.M. et al. The glomerulosclerosis gene Mpv17 encodes a peroxisomal protein producing reactive oxygen species. EMBO J. 13, 5129-5134 (1994).
10. Calvo, S. et al. Systematic identification of human mitochondrial disease genes through integrative genomics. Nat. Genet., advance online publication 2 April 2006 (doi:10.1038/ng1776).
11. Trott, A. & Morano, K.A. SYM1 is the stress-induced Saccharomyces cerevisiae ortholog of the mammalian kidney disease gene Mpv17 and is required for ethanol metabolism and tolerance during heat shock. Eukaryot. Cell 3, 620-631 (2004).
12. Mounolou, J.C., Jakob, H. & Slonimski, P.P. Mitochondrial DNA from yeast "petite" mutants: specific changes in buoyant density corresponding to different cytoplasmic mutations. Biochem. Biophys. Res. Commun. 24, 218-224 (1966).
13. Tiranti, V. et al. Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am. J. Hum. Genet. 74, 239-252 (2004).
14. Koehler, C.M. New developments in mitochondrial assembly. Annu. Rev. Cell Dev. Biol. 20, 309-335 (2004).
15. Wiedemann, N., Frazier, A.E. & Pfanner, N. The protein import machinery of mitochondria. J. Biol. Chem. 279, 14473-14478 (2004).
16. Gakh, O., Cavadini, P. & Isaya, G. Mitochondrial processing peptidases. Biochim. Biophys. Acta 1592, 63-77 (2002).
17. Rehling, P., Pfanner, N. & Meisinger, C. Insertion of hydrophobic membrane proteins into the inner mitochondrial membrane - a guided tour. J. Mol. Biol. 326, 639-657 (2003).
18. Otsuka, M., Mizuno, Y., Yoshida, M., Kagawa, Y. & Ohta, S. Nucleotide sequence of cDNA encoding human cytochrome c oxidase subunit VIc. Nucleic Acids Res. 16, 10916 (1988).
19. Hammen, P.K., Gorenstein, D.G. & Weiner, H. Structure of the signal sequences for two mitochondrial matrix proteins that are not proteolytically processed upon import. Biochemistry 33, 8610-8617 (1994).
20. Meyer zum Gottesberge, A.M., Reuter, A. & Weiher, H. Inner ear defect similar to Alport's syndrome in the glomerulosclerosis mouse model Mpv17. Eur. Arch. Otorhinolaryngol. 253, 470-474 (1996).
21. Fernandez-Vizarra, E., Lopez-Perez, M.J. & Enriquez, J.A. Isolation of biogenetically competent mitochondria from mammalian tissues and cultured cells. Methods 26, 292-297 (2002).
22. Gallet, P.F. et al. Transbilayer movement and distribution of spin-labelled phospholipids in the inner mitochondrial membrane. Biochim. Biophys. Acta 1418, 61-70 (1999).
23. Ohba, M. & Schatz, G. Disruption of the outer membrane restores protein import to trypsin-treated yeast mitochondria. EMBO J. 6, 2117-2122 (1987).
24. Tiranti, V. et al. Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions. Hum. Mol. Genet. 8, 2533-2540 (1999).
25. Fujiki, Y., Hubbard, A.L., Fowler, S. & Lazarow, P.B. Isolation of intracellular membranes by means of sodium carbonate treatment: application to endoplasmic reticulum. J. Cell. Biol. 93, 97-102 (1982).
26. Bugiani, M. et al. Clinical and molecular findings in children with complex I deficiency. Biochim. Biophys. Acta 1659, 136-147 (2004).
27. Petruzzella, V. et al. Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain. Genomics 54, 494-504 (1998).
28. Ho, S.N., Hunt, H.D., Horton, R.M., Pullen, J.K. & Pease, L.R. Site-directed mutagenesis by overlap extension using the polymerase chain reaction. Gene 77, 51-59 (1989).
29. Fontanesi, F. et al. Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability. Hum. Mol. Genet. 13, 923-934 (2004).
30. Winterthun, S. et al. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology 64, 1204-1208 (2005).