Property Summary

NCBI Gene PubMed Count 1
PubMed Score 376.36
PubTator Score 390.22

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Expression

Gene RIF (86)

PMID Text
26201854 The present study revealed no association between MS and T4216C variation in the ND1 mtDNA gene in the Iranian population.
25871488 The present analysis reveals a high number (358) of mtDNA alterations and a significant decrease in complex I activity in the FTLD population.
25863085 ND1 T3866C mutation is associated with Chinese families with Leber's hereditary optic neuropathy.
25626582 MT-NDA1 new genetic mutation was found in patients with multiple congenital cardiac abnormalities.
25194554 respiratory deficiency caused by the m.3635G>A mutation results in decreased efficiency of mitochondrial ATP synthesis; these mitochondrial dysfunctions caused an increase in production of reactive oxygen species in the mutant cybrids; data provide direct evidence for the m.3635G>A mutation leading to Leber's hereditary optic neuropathy
24643264 These results demonstrate that the energetic impairment caused by the almost homoplasmic m.3571insC mutation perturbs cellular metabolism leading to a decreased steady state level of components of very important mitochondrial NAD-dependent dehydrogenases.
24430572 To investigate the pathophysiology of Leber's hereditary optic neuropathy (LHON), a cohort of 1164 Han Chinese subjects with LHON were screened for ND1 G3460A mutation.
24163135 m.3460G>A/MT-ND1 mutation caused only a reduction in mitochondrial complex I(CI) activity, whereas the m.3571insC/MT-ND1 and the m.3243A>G/MT-TL1 mutations induced a severe structural and functional CI alteration.
24105702 we describe here a heteroplasmic mutation in the MT-ND1 gene that strongly suggest to cause epileptic encephalopathy: West syndrome (WS) patient with unidentified etiology that evolved to Lennox-Gastaut syndrome.
24002810 In Sherpa people, 2 mutations are ND1 mutants. One of them was reported as the primary mutation for Leber's hereditary optic neuropathy suggesting a certain effect on Complex I function and might be important in the altitude adaptation for Sherpa people.
23834081 Novel mutations m.3959G>A and m.3995A>G in mitochondrial gene MT-ND1 associated with MELAS.
23530560 BRN2 is a higher level regulator than ASCL1 and ND1 and BRN2 might be involved in aggressiveness of small cell lung cancer.
23464625 A statistically significant association of the T4216C mutation in ND1 (p < 0.05) between patients suffering recurrent pregnancy loss and controls, which are 30% and 11%, respectively.
22653752 These data suggest that the four early Complex I assembly factors have non-redundant functions in the assembly of a module that docks and stabilizes newly synthesized ND1.
22517755 Studies indicate that NADH dehydrogenase subunit 1 (ND1) nucleotide 3394 T > C (Y30H) has been associated with Leber hereditary optic neuropathy and it reduces complex I activity and cellular respiration.
22241583 Novel ND1 mutations responsible for maternally inherited nonsyndromic hearing loss
22079202 In all, m.3376G>A perturbs ubiquinone binding, a phenomenon found in LHON, and decreases the activity of fully assembled complex I as in MELAS.
21852384 the antitumorigenic and antimetastatic effects of high loads of MTND1 m.3571insC, following tumors complex I disassembly, define a novel threshold-regulated class of cancer genes
21625124 It is concluded that left ventricular hypertrabeculation/noncompaction may be associated with the known homoplasmic m.3308T>C mutation in the ND1 gene.
21329181 Three mutations in the Mitochondrial Subunit ND1 gene from primary colorectal tumour tissues were likely to alter the structure and function of the ND1 protein
20643099 these results suggest that the MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with suspected LHON lacking the common primary mutations.
20211276 Substitutions of a highly conserved Met31 in ND1 caused by rare mitochondrial single nucleotide polymorphisms (mtSNP) A3397G and T3398C were identified from two left ventricular noncompaction patients.
20197120 NADH dehydrogenase domain activity of NDH-1 with either one or both mutations was markedly decreased suggesting that m.4216T>C and m.3866T>C may have an effect on the structural integrity of complex I.
20176558 T3866C mutation in ND1 is associated with Leber's hereditary optic neuropathy and limbs abnormity claudication.
20137661 The 3316 G-->A mutation in mitochondrial ND1 gene might be related to the down-regulated expression of mitochondrial protein and the diabetes mellitus pathogenesis.
19758471 Observational study of gene-disease association. (HuGE Navigator)
19555656 the clinical and genetic characterization of a Chinese Leber's hereditary optic neuropathy family carrying an ND1/C4171A mutation was reported.
19527690 This current observations provide further support for a pathogenic role of m.3635G>A in ND1 in patients with Leber hereditary optic neuropathy.
19487983 After adjustment for full-thickness burn size, inhalation injury, age, and sex, carriage of the ND1 4216C allele was associated with complicated sepsis, relative to carriers of the T allele.
19324017 Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation in four Chinese families.
19276764 Carriage of the mitochondrial 4216C-allele increases the risk for infectious complications and death after severe trauma.
19199265 Observational study of genotype prevalence. (HuGE Navigator)
19199242 Observational study of gene-disease association. (HuGE Navigator)
19066432 Observational study of gene-disease association. (HuGE Navigator)
19050702 Observational study of gene-disease association. (HuGE Navigator)
18709563 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18701018 Observational study of gene-disease association. (HuGE Navigator)
18679013 Observational study of gene-disease association. (HuGE Navigator)
18590963 The 3380G>A mutation shows very good evidence of pathogenicity as it is heteroplasmic, undetectable in controls, alters a highly conserved amino acid, and is more abundant in ragged-red than in normal muscle fibers.
18513491 consisted of forcing mRNAs from nuclearly-encoded ND1 and ND4 genes to localize to the mitochondrial surface
18504678 study investigated 2 children with complex I deficiency in muscle mitochondria; 2 DE NOVO mutations in MTND1 were found; a novel heteroplasmic G3890A mutation, R195Q in patient 1; a heteroplasmic G3481A mutation, E59K in patient 2
18502698 A novel G3337A ND1 mutation related to cardiomyopathy co-segregates with tRNALeu(CUN) A12308G and tRNAThr C15946T mutations.
18239645 The cause of the observed association between resting metabolic rate and the ND1 polymorphism is not related to in vitro mitochondrial function.
18194667 suggested the involvement of other modifier factors in the pathogenesis of hypertension associated with this ND1 T3308C mutation
18082471 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
17717444 Observational study of gene-disease association. (HuGE Navigator)
17684475 Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
17619138 Observational study of gene-disease association. (HuGE Navigator)
17619138 Point mutation occurred in mtDNA might be involved in pathogenesis of multiple sclerosis.
17562939 the 3697G>A/ND1 mitochondrial DNA mutation causes the LHON and spastic dystonia phenotype in the same family
17454741 Mutation in ND1 protein is associated with non-arteritic anterior ischemic optic neuropathy
17434142 Therefore, the tRNA(Glu) A14693G mutation may have a potential modifier role in the phenotypic manifestation of the primary LHON-associated G3460A mutation in this Chinese family.
17429906 Observational study of gene-disease association. (HuGE Navigator)
17200023 Observational study of gene-disease association. (HuGE Navigator)
17045122 Observational study of gene-disease association. (HuGE Navigator)
17035175 Observational study of gene-disease association. (HuGE Navigator)
16884381 Observational study of gene-disease association. (HuGE Navigator)
16828917 mtDNA C3310T mutation in NADH dehydrogenase 1 may be a pathogenic mutation of maternally inherited type 2 diabetes mellitus and hypertrophic cardiomyopathy in the proband and the family.
16784756 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
16759180 Observational study of gene-disease association. (HuGE Navigator)
16604388 Observational study of gene-disease association. (HuGE Navigator)
16414144 Observational study of gene-disease association. (HuGE Navigator)
16414144 results suggest that the mutations of T3394C and A14693G may contribute to genetic predisposition to type 2 diabetes mellitus, with the T16189C variant being associated with insulin resistance
16137960 The mutations G3460A and G11778A in the mitochondrial genes MTND1 and MTND4, known to be causative for LHON.
16060290 Observational study of gene-disease association. (HuGE Navigator)
15975594 Observational study of gene-disease association. (HuGE Navigator)
15952130 Observational study of gene-disease association. (HuGE Navigator)
15860916 Observational study of gene-disease association. (HuGE Navigator)
15860916 This study has found alterations in two AD patients: one had two already known mtDNA modifications (3197 T-C and 3338 T-C) and the other a novel transition (3199 T-C).
15696471 Observational study of gene-disease association. (HuGE Navigator)
15533721 Observational study of gene-disease association. (HuGE Navigator)
15505787 A novel mitochondrial DNA (mtDNA) transition (3733G-->A) inducing the E143 K amino acid change at a very conserved site of the ND1 was identified in a family with six maternally related individuals with Leber's hereditary optic neuropathy (LHON)
15466014 three novel mutations causing MELAS syndrome
15265369 Observational study of gene-disease association. (HuGE Navigator)
15108120 Observational study of gene-disease association. (HuGE Navigator)
15038995 Both mRNA and protein levels of the 24-kDa and 51-kDa subunits of complex I were significantly decreased in the prefrontal cortex, but increased in the ventral parietooccipital cortices of schizophrenia patients compared with normal control subjects.
14759509 The expression of MTDN1 was studied in blood platelets during aging. There was increased genetic transcription.
14680844 Observational study of gene-disease association. (HuGE Navigator)
14671420 Observational study of gene-disease association. (HuGE Navigator)
14580860 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
12756609 presence of the A3796G mutation increases the risk of developing adult-onset dystonia.
12670626 Observational study of gene-disease association. (HuGE Navigator)
12618962 Observational study of gene-disease association. (HuGE Navigator)
12133550 Observational study of gene-disease association. (HuGE Navigator)
12111463 Novel mitochondrial DNA mutations in Parkinson's disease. we report novel homoplasmic base changes. We were unable to detect heteroplasmic base changes.
12100083 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)

AA Sequence

MPMANLLLLIVPILIAMAFLMLTERKILGYMQLRKGPNVVGPYGLLQPFADAMKLFTKEPLKPATSTITL      1 - 70
YITAPTLALTIALLLWTPLPMPNPLVNLNLGLLFILATSSLAVYSILWSGWASNSNYALIGALRAVAQTI     71 - 140
SYEVTLAIILLSTLLMSGSFNLSTLITTQEHLWLLLPSWPLAMMWFISTLAETNRTPFDLAEGESELVSG    141 - 210
FNIEYAAGPFALFFMAEYTNIIMMNTLTTTIFLGTTYDALSPELYTTYFVTKTLLLTSLFLWIRTAYPRF    211 - 280
RYDQLMHLLWKNFLPLTLALLMWYVSMPITISSIPPQT                                    281 - 318
//

Text Mined References (25)

PMID Year Title
26201854 2015 Mitochondrial DNA T4216C and A4917G variations in multiple sclerosis.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24105702 2013 Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome.
21144833 2011 A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss.
19243582 2009 Mitochondrial DNA haplogroup H structure in North Africa.
15265369 2004 Relationship between mutations of mitochondrial DNA ND1 gene and type 2 diabetes.
14760490 2004 Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians.
12949126 2003 Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J.
12840039 2003 Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines.
12611891 2003 The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification.
11130070 2000 Mitochondrial genome variation and the origin of modern humans.
8723687 1996 A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus.
8104867 1993 Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients.
7733935 1995 A new mitochondrial DNA mutation associated with non-insulin-dependent diabetes mellitus.
7530363 1995 Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs.
7219534 1981 Sequence and organization of the human mitochondrial genome.
6260957 1980 Cloning in single-stranded bacteriophage as an aid to rapid DNA sequencing.
3921850 1985 Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase.
2018041 1991 Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.
1959619 1991 Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON).
1928099 1991 Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.
1900003 1991 Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.
1757091 1991 Normal variants of human mitochondrial DNA and translation products: the building of a reference data base.
1674640 1991 A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.
1417830 1992 An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.