Disease relevance of MT-ND3

• This is the first description of a mitochondrial ND3 gene in Leigh syndrome with early lethality [1].
• Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene [2].
• It has been proposed that European mitochondrial DNA (mtDNA) haplogroups J and K, and their shared 10398G single-nucleotide polymorphism (SNP) in the ND3 gene, are protective from Parkinson's disease (PD) [3].
• In the present study we have identified another mitochondrial enzyme, ND3 of the human complex I, that binds to Abeta1-42 by the screening of a human brain cDNA library expressed on M13 phage [4].
• A cDNA isolated by a subtractive hybridization procedure detected loss of mtDNA and the mRNA coding for NADH dehydrogenase subunit 3 in 8 of 13 tumor kidney tissues obtained from patients with renal cell carcinoma [5].

High impact information on MT-ND3

• Transcripts of the NADH-dehydrogenase subunit 3 gene are differentially edited in Oenothera mitochondria [6].
• SNP 10398G causes a nonconservative amino acid change from threonine to alanine within the NADH dehydrogenase 3 (ND3) of complex I. After stratification by sex, this decrease in risk appeared stronger in women than in men (OR 0.43; 95% CI 0.27-0.71; P=.0009) [7].
• The extent to which the increased variation in ND3 and ND6 is a general phenomenon applicable to all subjects rather than a finding specific to cytopathies cannot be stated with certainty given the small control group [8].
• Both mutations cause disproportionately greater reductions in enzyme activity than in the amount of fully assembled complex I, suggesting the ND3 subunit plays an unknown but important role in electron transport, proton pumping, or ubiquinone binding [9].
• Subsequent analysis of the mitochondrial genome identified a novel heteroplasmic T10191C mutation in the ND3 gene [2].

Biological context of MT-ND3

• Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene [10].
• Subsequent analysis of the mitochondrial genome revealed a homoplastic T10191C mutation in the ND3 gene (in blood and muscle), resulting in a substitution of serine to proline [10].
• Analysis of ND3 mRNA turnover in cells with siRNA-mediated knock-down of the mitochondrial poly(A) polymerase shows that strongly decreased polyadenylation does not markedly affect the decay of this transcript [11].
• Five novel homoplasmic sequence variants, including two missense mutations (ND2 4924 G/A, ND3 10192 C/T), were detected in mitochondrial genes of complex I in four of the pairs [12].
• We infer the phylogenetic relationships of finescale shiners of the genus Lythrurus, a group of 11 species of freshwater minnows widely distributed in eastern North America, using DNA sequences from the ND2 (1047bp), ATPase8 and 6 (823bp), and ND3 (421bp) mitochondrial protein-coding genes [13].

Associations of MT-ND3 with chemical compounds

• The transition changes a serine residue into a proline, in a highly conserved region of the NADH dehydrogenase subunit 3 (ND3) [1].
• Investigation of the mt-mRNA decay after thiamphenicol treatment indicated that three transcripts (ND2, ND3 and Cyt. b) are significantly stabilized after inhibition of mitochondrial translation [11].
• The phylogenetic relationships among 33 of these genera were reconstructed using mitochondrial DNA (mtDNA) sequence data from the ND3, ND4L, arginine tRNA, and ND4 genes, which we show to be evolving at the same rate [14].
• Two regions of the mtDNA of Atlantic herring (Clupea harengus), ND3/4 and ND5/6, were surveyed by RFLP analysis to assess the effects of marker variability on the power of statistical tests [15].
• Gas-phase H/D exchange of sodiated glycine oligomers with ND3: exchange kinetics do not reflect parent ion structures [16].

Other interactions of MT-ND3

• The 10191T>C mutation in MTND3 and the 14487T>C mutation in MTND6 were present in two probands with Leigh's-like and Leigh's syndrome, respectively [17].
• A significant association was observed between one SNP, A10398G, resulting in a Thr114Ala substitution in the ND3 subunit, and the primary LHON mutation [18].
• The substitution per site of ATP6, the proton conducting subunit of ATPsynthase, CYTB, the core subunit of ubiquinone oxidoreductase that participate in both electron and proton transport, and ND3, a subunit of NADH dehydrogenase, showed the strongest correlations with longevity [19].
• One C deletion in MTND5 and one T insertion in the MTND3 gene resulted in frameshift mutations in two tumors [20].
• We investigated phylogenetic relationships within this genus using mitochondrial DNA sequence data from the ND3, ND2 and cytochrome b genes [21].

Analytical, diagnostic and therapeutic context of MT-ND3

• Northern blot and slot blot hybridization confirmed that the expression levels of ND3, ATPase 6 and 16S rRNA were elevated in senescent cells of all four strains [22].
• A questionnaire on preferences and anticipated barriers, anticipated benefits, and quality of life for three in-center IHD schedules (daytime 2 hr six times/week [DHD], nocturnal 8 hr three times/week [ND3], and nocturnal 8 hr six times/week [ND6]) was administered to 100 chronic hemodialysis patients [23].
• The number of labile hydrogens, x, could easily be determined from a comparison of ESI spectra obtained with N2 and with ND3 as the nebulizer gas [24].

References