Mitochondrial ND5 gene
The mitochondrial gene MT-ND5 encodes an enzyme responsible for electron transport on the inner mitochondrial membrane. It is subunit 5 of the respiratory complex I. The gene is encoded by nucleotides 12337-14148. Diseases caused by mutations include Leigh, MELAS, and MERFF syndromes, Leber hereditary optic neuropathy, and mitochondrial complex I deficiency. Also an association with Parkinson disease is discussed. The ensemble of all mitochondrial genes is tested if a mitochondrial disorder has to be diagnosed.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
Dickerson BC et al. (2005) Case records of the Massachusetts General Hospital. Case 36-2005. A 61-year-old woman with seizure, disturbed gait, and altered mental status.
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2. |
Liolitsa D et al. (2003) Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?
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3. |
Chol M et al. (2003) The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.
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4. |
Crimi M et al. (2003) A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.
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5. |
Kirby DM et al. (2003) Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.
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6. |
Nishigaki Y et al. (2004) ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy.
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7. |
Sudo A et al. (2004) Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan.
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8. |
Naini AB et al. (2005) Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.
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9. |
Mayorov V et al. (2005) The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation.
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10. |
Arizmendi JM et al. (1992) Complementary DNA sequences of two 14.5 kDa subunits of NADH:ubiquinone oxidoreductase from bovine heart mitochondria. Completion of the primary structure of the complex?
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11. |
Blok MJ et al. (2007) Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.
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12. |
Johns DR et al. (1991) Cytochrome b mutations in Leber hereditary optic neuropathy.
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13. |
Shanske S et al. (2008) The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases.
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14. |
Piccoli C et al. (2008) Coexistence of mutations in PINK1 and mitochondrial DNA in early onset parkinsonism.
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15. |
Park JS et al. (2009) A heteroplasmic, not homoplasmic, mitochondrial DNA mutation promotes tumorigenesis via alteration in reactive oxygen species generation and apoptosis.
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16. |
Liu XL et al. (2011) Leber's hereditary optic neuropathy is associated with the T12338C mutation in mitochondrial ND5 gene in six Han Chinese families.
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17. |
Howell N et al. (1993) When does bilateral optic atrophy become Leber hereditary optic neuropathy?
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18. |
Santorelli FM et al. (1997) Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.
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19. |
Pulkes T et al. (1999) The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS.
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20. |
Johns DR et al. (1992) An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.
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21. |
Walker JE et al. (1992) Sequences of 20 subunits of NADH:ubiquinone oxidoreductase from bovine heart mitochondria. Application of a novel strategy for sequencing proteins using the polymerase chain reaction.
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22. |
Brown MD et al. (1992) Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases.
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23. |
Brown MD et al. (1992) Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.
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24. |
Johns DR et al. (1991) Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.
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25. |
Wallace DC et al. (1986) Computer prediction of peptide maps: assignment of polypeptides to human and mouse mitochondrial DNA genes by analysis of two-dimensional-proteolytic digest gels.
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26. |
Chomyn A et al. (1986) URF6, last unidentified reading frame of human mtDNA, codes for an NADH dehydrogenase subunit.
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27. |
Chomyn A et al. () Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase.
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28. |
Giles RE et al. (1980) Maternal inheritance of human mitochondrial DNA.
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29. |
Case JT et al. (1981) Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts.
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30. |
Oliver N et al. (1984) Comparison of mitochondrially synthesized polypeptides of human, mouse, and monkey cell lines by a two-dimensional protease gel system.
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31. |
Oliver NA et al. (1982) Assignment of two mitochondrially synthesized polypeptides to human mitochondrial DNA and their use in the study of intracellular mitochondrial interaction.
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32. |
Attardi G et al. (1982) Identification and mapping of human mitochondrial genes.
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33. |
Anderson S et al. (1981) Sequence and organization of the human mitochondrial genome.
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34. |
Montoya J et al. (1981) Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs.
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35. |
Ojala D et al. (1981) tRNA punctuation model of RNA processing in human mitochondria.
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36. |
Taylor RW et al. (2002) Leigh disease associated with a novel mitochondrial DNA ND5 mutation.
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37. |
Orphanet article
Orphanet ID 123562
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38. |
NCBI article
NCBI 4540
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39. |
OMIM.ORG article
Omim 516005
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40. |
Wikipedia article
Wikipedia EN (MT-ND5)
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Update: Aug. 14, 2020