Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.6.1.1 (aspartate aminotransferase)
 21,665 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Skeletal muscle and adipose tissue hexokinase II is a promising candidate gene for non-insulin-dependent diabetes mellitus (NIDDM) and insulin resistance. Therefore, we investigated the association of alleles at four polymorphic loci in this gene with NIDDM and insulin resistance in 110 Finnish diabetic patients with NIDDM and in 97 Finnish control subjects with normal glucose tolerance and a negative family history of diabetes. The four polymorphic nucleotide substitutions (silent) in the coding region of the hexokinase II gene were: GAC 251 GAT (exon 7), AAC 692 AAT and CCG 736 CCC (exon 15), and CTG 766 CTA (exon 16). Allele frequencies of each of these polymorphisms did not differ between patients with NIDDM and control subjects. In addition, subjects who were homozygous for the less frequent allele of each of the four polymorphisms had a similar degree of insulin resistance, as determined by the euglycaemic clamp technique, as did the subjects who were homozygous for the common allele in both control subjects and in patients with NIDDM. In conclusion, polymorphisms in the hexokinase II gene are not associated with the risk of NIDDM or insulin resistance in the Finnish population.
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PMID:Polymorphisms of the human hexokinase II gene: lack of association with NIDDM and insulin resistance. 748 47

Little is known about the presence of common medical pathogens in the human oral cavity. Using a 16S rRNA-based PCR identification method, this study determined the occurrence of Porphyromonas asaccharolytica, Bacteroides fragilis and Chlamydia pneumoniae in subgingival plaque from 50 adults with advanced periodontitis. Each patient contributed samples from 3 deep periodontal pockets collected by paper points. The PCR primers were for P. asaccharolytica 5'-CTC TAG CTA GAG TGT ACT GG-3' and 5'-ATA GGG TTT ATA GAT TAG CTC TCT-3', for B. fragilis 5'-AAT GAT TCC GCA TGG TTT CAT TA-3' and 5'-GCG GTG ATT GCT CAC TGA CA-3', and for C. pneumoniae 5'- TGA CAA CTG TAG AAA TAC AGC-3' and 5'-CGC CTC TCT CCT ATA AAT-3'. The primers yielded a single amplicon with the respective reference strains and produced no amplicon with colonies of 25 groups of oral organisms. None of the three test species were detected in any of the 50 pooled subgingival samples tested. P. asaccharyolytica, B. fragilis and C. pneumoniae do not seem to be part of the periodontopathic microbiota in humans.
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PMID:Absence of Porphyromonas asaccharolytica, Bacteroides fragilis and Chlamydia pneumoniae in human subgingival plaque. 957 14

Molecular cloning and sequencing of a cDNA encoding rabbit presenilin-1 (Ps1) fragment was performed by reverse transcription polymerase chain reaction (RT-PCR) using primers: 5'-GGA TGA GCA GCT AAT CTA TAC C-3' and 5'-TCC ATT CAG GGA GGT ACT TGA TA-3'. The cDNA fragment revealed 402 nucleotides. The sequence was well conserved and found to be 91, 90, 88, 87 and 78% homologous to that of human, lemur, rat, mouse and chicken, respectively. The cDNA translated into a 130 amino-acid protein fragment. The deduced amino-acid sequence was also well conserved in various species and exhibited 98% similarities with those of rat, lemur and human homologues. However, differences were noticed at residues 145, 168 and 212. This cDNA fragment is quite significant because it is the most conserved portion of Ps1 in various animals and encodes four transmembrane regions (TM2, 3, 4, 5) as defined in human Ps1. Moreover, it includes more than 50% of the sites at which substitutions have been reported in familial Alzheimer's disease (FAD). Therefore, it is suggested that the rabbit can be used as an experimental model for future studies on Ps1 and its physiological functions to work out possible pathways leading to FAD linked neurodegeneration.
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PMID:Molecular cloning and sequencing of rabbit presenilin-1 cDNA fragment. 1254 8

Transforming growth factor-beta receptor-dependent signals are critical for cell growth and differentiation and are often disrupted during tumorigenesis. The entire coding region of TGFbetaRI and flanking intron sequences from 53 primary non-small cell lung cancer (NSCLC) tissues were examined for alterations using SSCP and direct sequencing. No somatic point mutations other than two silent mutations and a polymorphism were found in the TGFbetaRI gene. The two silent mutations located at codon 344 (AAT to AAC) and codon 406 (TTA to CTA), respectively, and the polymorphism was at the 24th base of intron 7 (G to A). To investigate whether the presence of this polymorphism is associated with NSCLC, we determined its allele distribution in all the 53 carcinomas and 89 normal controls. Interestingly, we found that the subjects with homozygous genotype A/A displayed more than 3-fold increased risk of developing NSCLC than the common wild genotype G/G. As the first report, the present study showed that TGFbetaRI gene is not a frequent site of spontaneous mutational inactivation while the detected polymorphism is frequent in the pathogenesis of NSCLC.
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PMID:Mutational analysis of the transforming growth factor beta receptor type I gene in primary non-small cell lung cancer. 1278 26

Some plants classified in the genus Artemisia are used for medicinal purposes. In particular, A. iwayomogi, which is referred to as 'Haninjin,' is used as an important medicinal material in traditional Korean medicine. However, A. capillaris, and both A. argyi and A. princeps, referred to as 'Injinho' and 'Aeyup,' respectively, are used for purposes other than those for which 'Haninjin' is utilized. However, it is occasionally difficult to differentiate 'Haninjin' from 'Injinho' and/or 'Aeyup' on the basis of their morphological features, particularly when in the dried and/or sliced form. Therefore, the development of a reliable method by which to discriminate 'Haninjin' from other Artemisia herbs, especially 'Injinho' and 'Aeyup,' is clearly necessary. We recently determined that the RAPD (random amplified polymorphic DNA) technique can be used to discriminate efficiently between some Artemisia herbs. In particular, when applied to RAPD, the non-specific UBC primer 391 (5'-GCG AAC CTC G-3') was demonstrated to amplify PCR products specific to A. iwayomogi. Based on the nucleotide sequences of the PCR product, we designed a 2F1 (5'-ACC TCG GAC CTA AAT ACA-3')/ 2F3 (5'-TTA TGA TTC ATG TTC AAT TC-3') primer set to amplify a SCAR (sequence-characterized amplified region) marker of A. iwayomogi. Employing this primer set, along with two other primer sets amplifying SCAR markers of 'Aeyup' (A. argyi and A. princeps) and both 'Injinho' (A. capillaris) and A. japonica, which are classified into the same subgroup in a phenogram constructed from RAPD analysis, we developed a multiplex PCR method by which A. iwayomogi could be discriminated with certainty from other Artemisia herbs. Via this method, we determined not only whether the tested Artemisia herb was A. iwayomogi, but also which Artemisia herbs were tested concurrently with A. iwayomogi.
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PMID:Application of the multiplex PCR method for discrimination of Artemisia iwayomogi from other Artemisia herbs. 1837 63

The yellow meal worm (Tenebrio molitor L.) is an important resource insect typically used as animal feed additive. It is also widely used for biological research. The first complete mitochondrial genome of T. molitor was determined for the first time by long PCR and conserved primer walking approaches. The results showed that the entire mitogenome of T. molitor was 15 785 bp long, with 72.35% A+T content [deposited in GenBank with accession number KF418153]. The gene order and orientation were the same as the most common type suggested as ancestral for insects. Two protein-coding genes used atypical start codons (CTA in ND2 and AAT in COX1), and the remaining 11 protein-coding genes started with a typical insect initiation codon ATN. All tRNAs showed standard clover-leaf structure, except for tRNA(Ser) (AGN), which lacked a dihydrouridine (DHU) arm. The newly added T. molitor mitogenome could provide information for future studies on yellow meal worm.
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PMID:Complete mitochondrial genome of yellow meal worm (Tenebrio molitor). 2546 87

Codon usage bias (CUB) is extensively found in a wide variety genomes and it is mostly affected by mutation pressure and natural selection. Analysis of CUB helps in studying the evolutionary features of a genome. The SRY gene plays an important role in male reproductive organ and a good candidate to study the evolutionary forces, since little work was reported earlier on this gene. We used bioinformatic methods to analyze the protein-coding sequences of SRY gene in 172 different mammalian species to understand the patterns of codon usage and the evolutionary forces acting on it. We found that the codon bias of SRY gene varies widely across mammals. Relative synonymous codon usage (RSCU) value revealed that the codons such as TCG, CCG, CAT, ATT, ACT, GCT, GTT, GCG, GGG and GGT were over-represented. Correspondence analysis indicated that the distribution of codons was more close to the axes indicating that compositional constraints might correlate to codon bias. Z-score analysis on RSCU values of codons identified a set of 11 codons viz. TCT, TTT, CTA, CTC, TAT, CAG, CGT, ATA, ACC, AAT and GTA which differed significantly at p<0.01 between 5% high and low gene expression datasets. Further, it was evident from the neutrality plot that GC12 was influenced by both mutation pressure and natural selection. From the study we concluded that natural selection played a dominant role, but mutational pressure played a minor role in the codon usage pattern of SRY gene across mammals.
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PMID:Factors affecting the codon usage bias of SRY gene across mammals. 2894 26

Dahlia (Dahlia variabilis Hort.) is a significant ornamental plant in New Zealand. Symptoms such as mosaic, ring spots, mottling, and veinal chlorosis, suggestive of a viral infection, are often seen in various dahlia collections. To better understand the incidence of viruses in dahlia in New Zealand, several popularly grown cultivars were evaluated for viruses that are known to infect dahlia. Viruses that were tested included Cucumber mosaic virus (CMV), Dahlia mosaic virus (DMV), Impatiens necrotic spot virus (INSV), Tobacco streak virus (TSV), and Tomato spotted wilt virus (TSWV). At least one symptomatic plant was tested from each of the following cultivars: Akito Dawn, Cincinnati Dancer, Hamari Accord, Hamari Rose, LeBatts Prime, LeVonne Splinter, Riverlea Tropicana, Spartacus, Tartan, Tui Connie, and Wandas Antartica. Except for DMV, initial testing was done by ELISA with commercially available kits for the above viruses. In the case of dahlia mosaic, samples were tested for DMV that was described previously (4) and two additional and distinct caulimoviruses (DMV-D10 and DMV-Holland) that were found to be associated with dahlia (1,2). Primer pairs, ORF6st: ATG GAA GAA ATT AAG GCG T and ORF6end: TTG TCT TCA TCC ATA AAG CAG; DenF1: CAG CAA GAA ACA GGA ATT GA and DenR: TTA CAG TCG AAG CTG CTA AA; and Kapht-F: ATG AGT AAT GCT TCA GCA A and Kapht-R: TGA CCA TGG CTT CTA ACT GT were used for the specific detection of DMV-D10, DMV-Holland, and DMV, respectively (1). None of the samples tested were ELISA positive for CMV, INSV, or TSWV. To verify the TSV infection, TSV-specific primers (5'-GTC CAG ACC ATC CAT CCA AC-3' and 5'-TTG ATT CAC CAG GAA ATC TT-3'), designed based on sequences available in GenBank, were used in reverse transcription (RT)-PCR. For DMV, the diagnostic tests used were electron microscopy and PCR followed by amplicon cloning and sequencing. Electron microscopic observation of leaf-dip preparations showed near isometric virions, approximately 50 to 60 nm in all samples tested. PCR showed that all samples tested were positive for DMV-Holland and DMV-D10. While DMV-Holland is a typical caulimovirus, DMV-D10 was found to exist as an endogenous plant pararetroviral sequence in dahlia (3). One sample each from two cultivars, Spartacus and Tui Connie, were positive for TSV by ELISA, RT-PCR, followed by the sequence analysis of the cloned amplicon. The impact of TSV-infected dahlias as a potential source of inoculum remains to be seen. Our results suggested the prevalence of dahlia mosaic-associated caulimoviruses in several dahlia cultivars and the presence of TSV in New Zealand dahlias. Dahlia mosaic continues to be prevalent in several parts of the world (1), and with the current findings in New Zealand, testing for these viruses should be conducted to ensure virus-free status of the propagating material. References: (1) V. Pahalawatta et al. Plant Dis. 91:1194, 2007. (2) V. Pahalawatta et al. Arch. Virol.153:733, 2008. (3) V. Pahalawatta et al. Virology 376:253, 2008. (4) R. D. Richins and R. J. Shepherd. Virology 124:208, 1983.
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PMID:Dahlia mosaic virus and Tobacco streak virus in Dahlia (Dahlia variabilis) in New Zealand. 3076 5

A girl, aged 8 years, developed jaundice and liver dysfunction in the neonatal period, with congenital glaucoma diagnosed on day 5 after birth, hypertension and unusual facies (broad forehead, hypertelorism and deep-set eyes). Cholestasis was the main type of liver dysfunction. Cardiac macrovascular CTA showed stenosis at the abdominal aorta and the beginning of the bilateral renal arteries. Whole exon sequencing revealed a heterozygous frameshift mutation, c.1485delC (absence of cytosine), in exon 12 of the JAG1gene. The girl was diagnosed with Alagille syndrome and was given transaminase-lowering, cholagogic and antihypertensive treatment with multiple drugs. There were significant reductions in serum levels of alanine aminotransferase, aspartate aminotransferase and total bile acid, but blood pressure fluctuated between 102-140 mm Hg/53-89 mm Hg. After renal artery angiography and balloon dilatation angioplasty, the girl was given oral administration of antihypertensive drugs, and blood pressure was controlled at a level of 110-120 mm Hg/60-80 mm Hg. The rare disease Alagille syndrome should be considered when a child has refractory hypertension with the involvement of multiple systems, especially liver dysfunction with cholestasis as the main manifestation. Genetic causes should be analyzed for a early diagnosis.
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PMID:[Liver dysfunction for 8 years with hypertension for 1 week in an 8-year-old girl]. 3090 55