autosomal recessive mitochondrial DNA depletion syndrome

Autosomal recessive hepatocerebral mitochondrial DNA (mtDNA) depletion syndrome is caused by mutation in the nuclear-encoded mitochondrial deoxyguanosine kinase gene (DGUOK; MIM.601465), the MPV17 gene (MIM.137960), or the C10ORF2 gene (MIM.606075).

Types

 DGUOK-associated mitochondrial DNA depletion syndrome (MIM.601465)
 MPV17-associated mitochondrial DNA depletion syndrome (MIM.137960)
 C10ORF2-associated mitochondrial DNA depletion syndrome (MIM.606075)

See also

 mitochondrial DNA depletion syndromes

References

 Mandel, H.; Szargel, R.; Labay, V.; Elpeleg, O.; Saada, A.; Shalata, A.; Anbinder, Y.; Berkowitz, D.; Hartman, C.; Barak, M.; Eriksson, S.; Cohen, N. :
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nature Genet. 29: 337-341, 2001. PubMed ID : 11687800

 Salviati, L.; Sacconi, S.; Mancuso, M.; Otaegui, D.; Camano, P.; Marina, A.; Rabinowitz, S.; Shiffman, R.; Thompson, K.; Wilson, C. M.; Feigenbaum, A.; Naini, A. B.; Hirano, M.; Bonilla, E.; DiMauro, S.; Vu, T. H. : Mitochondrial DNA depletion and dGK gene mutations. Ann. Neurol. 52: 311-316, 2002. PubMed ID : 12205643

 Taanman, J.-W.; Kateeb, I.; Muntau, A. C.; Jaksch, M.; Cohen, N.; Mandel, H. : A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA. Ann. Neurol. 52: 237-239, 2002. PubMed ID : 12210798

 Taanman, J.-W.; Muddle, J. R.; Muntau, A. C. : Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts. Hum. Molec. Genet. 12: 1839-1845, 2003. PubMed ID : 12874104

 Tadiboyina, V. T.; Rupar, A.; Atkison, P. Feigenbaum, A.; Kronick, J.; Wang, J.; Hegele, R. A. : Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria. Am. J. Med. Genet. 135A: 289-291, 2005.