The DGUOK gene provides instructions for making the enzyme deoxyguanosine kinase. This enzyme plays a critical role in mitochondria, which are structures within cells that convert the energy from food into a form that cells can use. Mitochondria each contain a small amount of DNA, known as mitochondrial DNA or mtDNA, which is essential for the normal function of these structures. Deoxyguanosine kinase is involved in producing and maintaining the building blocks of mitochondrial DNA.
Health Conditions Related to Genetic Changes
Deoxyguanosine kinase deficiency
Approximately 40 mutations in the DGUOK gene have been identified in people with deoxyguanosine kinase deficiency. Some of these mutations change single protein building blocks (amino acids) in the deoxyguanosine kinase enzyme. Other mutations result in an abnormally shortened, nonfunctional enzyme or cause the enzyme to be pieced together incorrectly.
Mutations in the DGUOK gene reduce or eliminate the activity of the deoxyguanosine kinase enzyme. Reduced enzyme activity leads to problems with the production and maintenance of mitochondrial DNA. A reduction in the amount of mitochondrial DNA (known as mitochondrial DNA depletion) impairs mitochondrial function in many of the body's cells and tissues. These problems lead to the neurological and liver dysfunction associated with deoxyguanosine kinase deficiency.More About This Health Condition
Other Names for This Gene
- deoxyguanosine kinase isoform a precursor
- deoxyguanosine kinase isoform b precursor
- deoxyguanosine kinase, mitochondrial
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
- Brahimi N, Jambou M, Sarzi E, Serre V, Boddaert N, Romano S, de Lonlay P, Slama A, Munnich A, Rotig A, Bonnefont JP, Lebre AS. The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. Mol Genet Metab. 2009 Jul;97(3):221-6. doi: 10.1016/j.ymgme.2009.03.007. Epub 2009 Mar 27. Citation on PubMed
- Dimmock DP, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, Tang LY, Truong C, Schmitt E, Sifry-Platt M, Lucioli S, Santorelli FM, Ficicioglu CH, Rodriguez M, Wierenga K, Enns GM, Longo N, Lipson MH, Vallance H, Craigen WJ, Scaglia F, Wong LJ. Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat. 2008 Feb;29(2):330-1. doi: 10.1002/humu.9519. Citation on PubMed
- El-Hattab AW, Scaglia F. Deoxyguanosine Kinase Deficiency. 2009 Jun 18 [updated 2023 Feb 9]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from http://www.ncbi.nlm.nih.gov/books/NBK7040/ Citation on PubMed
- Freisinger P, Futterer N, Lankes E, Gempel K, Berger TM, Spalinger J, Hoerbe A, Schwantes C, Lindner M, Santer R, Burdelski M, Schaefer H, Setzer B, Walker UA, Horvath R. Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations. Arch Neurol. 2006 Aug;63(8):1129-34. doi: 10.1001/archneur.63.8.1129. Citation on PubMed
- Mancuso M, Ferraris S, Pancrudo J, Feigenbaum A, Raiman J, Christodoulou J, Thorburn DR, DiMauro S. New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. Arch Neurol. 2005 May;62(5):745-7. doi: 10.1001/archneur.62.5.745. Citation on PubMed
- 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. Nat Genet. 2001 Nov;29(3):337-41. doi: 10.1038/ng746. Erratum In: Nat Genet 2001 Dec;29(4):491. Citation on PubMed
- Saada-Reisch A. Deoxyribonucleoside kinases in mitochondrial DNA depletion. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1205-15. doi: 10.1081/NCN-200027480. Citation on PubMed
- Salviati L, Sacconi S, Mancuso M, Otaegui D, Camano P, Marina A, Rabinowitz S, Shiffman R, Thompson K, Wilson CM, Feigenbaum A, Naini AB, Hirano M, Bonilla E, DiMauro S, Vu TH. Mitochondrial DNA depletion and dGK gene mutations. Ann Neurol. 2002 Sep;52(3):311-7. doi: 10.1002/ana.10284. Citation on PubMed
- Slama A, Giurgea I, Debrey D, Bridoux D, de Lonlay P, Levy P, Chretien D, Brivet M, Legrand A, Rustin P, Munnich A, Rotig A. Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement. Mol Genet Metab. 2005 Dec;86(4):462-5. doi: 10.1016/j.ymgme.2005.09.006. Epub 2005 Nov 2. Citation on PubMed
- Wang L, Eriksson S. Mitochondrial deoxyguanosine kinase mutations and mitochondrial DNA depletion syndrome. FEBS Lett. 2003 Nov 20;554(3):319-22. doi: 10.1016/s0014-5793(03)01181-5. Citation on PubMed
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