Recombinant Human NADH-ubiquinone oxidoreductase chain 4 (MT-ND4), partial

1. The mitochondrial haplogroup D4j specific m.11696G > A mutation may act in synergy with the primary Leber's hereditary optic neuropathy-associated m.11778G > A mutation, thereby increasing the penetrance and expressivity of visual loss in these Chinese families. PMID: 27159682
2. A missense mutation, m.11778G>A (p.R340H), in the ND4 gene was identified in eight patients and three asymptomatic carriers, even though the incidence of this has been considered low in Chinese population. PMID: 29116953
3. The first detailed study of Indian LHON patients confirm that the m.11778G>A-related LHON in India coexists with multiple different mtDNA haplogroups, unlike the preferential association of west Eurasian haplogroup J and the reported increased clinical penetrance with the J2 subhaplogroup. PMID: 28768321
4. MT-ND4 and MT-TL1 genetic variation might be associated with male infertility in Chinese patients. PMID: 27973917
5. this paper identified m.11240C4T in ND4 as a novel mitochondrial disease-related mtDNA mutation in Leigh syndrome. PMID: 27761019
6. We identified a genetic association between the MT-ND4 11719 A/G polymorphism and Ulcerative Colitis in the subgroup of males. The male-specific association indicates differences between males and females concerning the impact of mitochondrial gene polymorphisms on the development of Ulcerative Colitis. PMID: 27716073
7. The molecular study of a family with one member with Leber hereditary optic neuropathy found the mitochondrial mutation m.11778G>A in MT-ND4. PMID: 26683077
8. the ND4 gene is the hot spot for mutations associated with Leber's hereditary optic neuropathy PMID: 26218905
9. Expression of WT human ND4 in cells with the G11778A mutation in ND4 led to restoration of defective ATP synthesis. PMID: 22523243
10. altered activity of complex III modulates the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation PMID: 21742061
11. Patients with somatically acquired ND4 mutations had significantly longer relapse-free survival (P=0.017) and overall survival (OS) (P=0.021) than ND4(wildtype) patients PMID: 21826063
12. Our data emphasize the important role of MTND mutations in the pathogenicity of MELAS, especially MELAS/LS overlap syndrome. PMID: 21850008
13. The specific mtDNA background B5a1 was significantly associated with Southeast Asian G11778A LHON and appeared to modify the risk of visual loss. PMID: 21398275
14. mitochondrial haplogroup M9a specific variant T3394C may modulate the phenotypic manifestation of LHON-associated G11778A mutation in Chinese pedigrees. PMID: 20728388
15. These results suggest that a different set of LHON-causing mutations is present in the South Indian population than in the European population PMID: 20809775
16. Molecular analysis of mitochondrial genome identified the known ND4 G11778A mutation and 51 variants, belonging to Asian haplogroup C4a1. PMID: 20627642
17. Twenty-five subjects with Leber hereditary optic neuropathy (LHON) and 21 carriers positive for the G11778A mitochondrial DNA mutation were recruited. Three additional mutations in the ND4 gene, G11719A, G11947A, or G11914A, were detected. PMID: 20837795
18. Treatment of acute visual loss due to LHON may be possible with a normal human ND4 subunit gene of complex I, mutated in most cases of LHON, when delivered by an scAAV vector. PMID: 20625049
19. Therefore, nuclear modifier gene(s) or environmental factor(s) may play a role in the phenotypic expression of the LHON-associated G11696A mutation in these Chinese pedigrees. PMID: 16364244
20. A novel missense mutation (C11994T) in the ND4 gene, which replaces threonine with isoleucine, was observed in all of the oligoasthenozoospermic men but not in any of the normozoospermic fertile men. PMID: 17069814
21. Sequence analysis of the complete mitochondrial DNA in this pedigree revealed the presence of the homoplasmic ND4 G11778A mutation and 33 other variants. PMID: 17300996
22. In situ hybridizations of deparaffinized human lung tissue slices derived from wt-CFTR or cystic fibrosis patients showed downregulation of ND4 in CF. PMID: 17382898
23. result suggests that mtDNA mutation occurs before tumorigenesis and become apparent in cancer cells PMID: 17509949
24. Further analyzed the oligoasthenozoospermic samples from a previous systematic study of infertile Portuguese men and found no instance of C11994T mutation in mitochondrial ND4 gene. PMID: 17517394
25. the G11696A mutation may act in synergy with the primary deafness-associated 12S rRNA A1555G mutation in a Chinese family, thereby increasing the penetrance and expressivity of hearing loss in this Chinese pedigree [case report] PMID: 17723226
26. electroporation with wild-type ND4 prevented both RGC loss and the impairment of visual function. PMID: 18771762
27. The extremely low penetrance of vision loss in these 8 Chinese pedigrees strongly indicates that the G11778A mutation was itself insufficient to produce a clinical phenotype. PMID: 19167085
28. G10680A mutation of ND4 may play a synergistic role with the primary mutation T14484C of ND6, leading to the complete penetrance of Leber's hereditary optic neuropathy in the presenting family. PMID: 19394449

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HGNC: 7459

OMIM: 500001

KEGG: hsa:4538

STRING: 9606.ENSP00000354961