Disease relevance of valine

• CONCLUSIONS: Early-onset antisocial behavior in a high-risk clinical group is predicted by a specific COMT gene variant previously linked with prefrontal cortical function and birth weight, and those possessing the val/val genotype are more susceptible to the adverse effects of prenatal risk as indexed by lower birth weight [1].
• A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis [2].
• Hemoglobin (Hb) North Shore (beta 134 val leads to glu) is a mutant hemoglobin that is associated with the phenotype of mild heterozygous beta-thalassemia [3].
• Alcohol intake was a stronger risk factor among men with the val/val genotype (P, trend = 0.01), and consumption of five or more alcoholic drinks per week abolished the reduced risk of colorectal cancer among val/val individuals (P, interaction = 0.02) [4].
• A single amino acid substitution (gly743 --> val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome [5].

Psychiatry related information on valine

• In contrast, when 5-methyltetrahydrofolate is depleted by alcohol consumption, val/val individuals may be less able to compensate, leading to potentially oncogenic alterations in DNA methylation [4].
• Two of the SNPs (rs4680 ('val/met') and rs737865) were significantly associated with (low) extraversion and, less consistently, with (high) neuroticism, with effects confined to women [6].
• None of the carriers of the val/val genotype without cognitive impairment at baseline developed dementia during the follow up [7].
• We have previously found an increased physical activity but a similar 24-h energy expenditure (EE) in subjects with the val/val-55 UCP2 genotype compared to those with the ala/ala genotype which indicates that the val-55 allele is statistically associated with a higher metabolic efficiency [8].
• The BDNF (GT)(n) marker and the val/short haplotype are associated with COMD in this sample, in accordance with the previously described neurotrophic hypothesis of depression and some previous studies of association for bipolar disorder and neuroticism [9].

High impact information on valine

• If the lambda 1lo-phenotype is due to the gly leads to val interchange in C lambda 1, then an argument can be made that (a) the lambda 1lo-phenotype is due to inefficient induction of lambda 1lo-bearing B cells and (b) B cell triggering is dependent upon a conformational change in the Ig receptor upon interaction with antigen [10].
• Detailed analysis of 14 cases from 5 unrelated families showed that patients ran either a short (9.1 +/- 1.1 months) or a prolonged (30.8 +/- 21.3 months) clinical course according to whether they were homozygote met/met or heterozygote met/val at codon 129 [11].
• The adjusted odds ratio (OR) for the MTHFR variant homozygous (val/val) genotype was 0.57 [95% confidence interval (CI), 0.30-1.06] [4].
• Several tumorigenic (benign and malignant) clones have been raised from the human epidermal cell line HaCaT after transfection with the c-Ha-ras oncogene (val 12) (P. Boukamp et al., Cancer Res., 50: 2840-2847, 1990) [12].
• Conversion of prostaglandin G/H synthase-1 into an enzyme sensitive to PGHS-2-selective inhibitors by a double His513 --> Arg and Ile523 --> val mutation [13].

Chemical compound and disease context of valine

• The inverse association of methionine with colorectal cancer risk was slightly stronger among individuals with the MTHFR val/val genotype [4].
• Using a nested case control design within the Nurses' Health Study cohort, we genotyped 453 cases and 456 controls and found no significant association between m1[val/leu and leu/leu versus val/val, OR = 1 (CI, 0.72-1.45)] or m2 [asn/ser and ser/ser versus asn/asn, OR = 0.8 (CI, 0.62-1.15)] and breast cancer risk [14].
• We found that the CYP1A1 I462V genotype (combined ile/val and val/val) was significantly associated with lung cancer risk [15].
• GEA 857 [2-(4-chlorophenyl)-1,1-dimethylethyl 2-amino-3-methylbutanoate], a structural analogue of the serotonin (5-HT) uptake inhibitor alaprocalate but without effects on the 5-HT uptake, was shown to potentiate muscarinic cholinergic responses in N1E-115 neuroblastoma cells [16].

Biological context of valine

• Mixed model analyses revealed a main effect of BDNF val66met genotype such that in the combined sample of patients and healthy volunteers, val/val homozygotes (N=27) had larger volumes of the hippocampal formation compared to val/met heterozygotes (N=17) [17].
• We describe an efficient and highly enantioselective conjugate transfer hydrogenation of alpha,beta-unsaturated ketones that is catalyzed by a salt made from tert-butyl valinate and a recently introduced powerful chiral phosphoric acid catalyst (TRIP) [18].
• We previously identified a case of human acute myelogenous leukemia (AML) in which both alleles of the p53 gene had undergone independent missense mutations (at codons 135 cys to ser and 246 met to val) [19].
• The positive control, the plasmid LTRp53cG (val), had a point mutation in exon 5 that was detected by PCR-SSCP [20].
• Here we show that induction of cell proliferation in primary follicular cells by a mutant human Ha-ras (val 12) expressed from a retroviral vector was absolutely dependent on the presence of serum growth factors [21].

Anatomical context of valine

• We confirmed our findings by creating a transformed RP epithelial cell line with a temperature sensitive mutant p53 (val 135) [22].
• To best of our knowledge, this is the first paper showing ile/val genotypes and val allele of GSTP1 to be associated with higher risk of gallbladder cancer [23].
• Morphology of the hypophysis of the freshwater teleost rhamdia hilarii (val., 1840) [24].
• Phe-arg-arylamidase was found only in cytoplasmic fractions whereas val-pro-argarylamidase was found in cell walls, cell membranes and cytoplasmic fraction [25].

Associations of valine with other chemical compounds

• Children with asthma with GSTP1 val/val genotype had higher malondialdehyde and lower glutathione levels compared with other genotypes (P = .023 and P = .014, respectively) [26].
• These various data provide convergent evidence that the COMT val allele increases risk for schizophrenia by virtue of its effect on dopamine-mediated prefrontal information processing-the first plausible mechanism for a genetic effect on normal human cognition and risk for mental illness [27].
• The main difference between solutions was in the efflux of BCAA; particularly, val and leu efflux was turned into uptake in the BCAA group [28].
• RESULTS: At baseline, carriers of the ala/ala genotype had a median MMSE score of 27 points (interquartile range (IQR) 21.5-29), for the ala/val genotype it was 26 points (IQR 20-29), and for the val/val genotype it was 27 points (IQR 20-28.3) (p=0.3) [7].
• Zkrml2 shows 72% and 92% identity in its basic leucine zipper domain with mouse Krml1 and zebrafish val, respectively [29].

Gene context of valine

• In the absence of the short 5-HTTLPR allele and in the presence of the high enzyme activity COMT val/val genotype, NS scores are higher in the presence of the DRD4 seven-repeat allele [30].
• Also, a significant association was found between tumour stage (Tis and T2+ vs. Ta and T1) and presence of the GSTP1 val allele (adjusted OR = 2.00, CI 1.14-3.52) [31].
• To study gene-gene interactions, a combined risk of gallbladder cancer due to ile/val or val/val were calculated in combination with null alleles of GSTM1 and GSTT1 or the *B allele of GSTM3, but there was no enhancement of risk [23].
• A significant association was not observed between the prevalence of p16 mutations in oral tumors and tobacco use, or CYP1A1 [val] or GSTM1 (0/0) genotypes [32].
• None of the sweeps had the rare CYP1A1 genotype val/val and only one individual had the m2/m2 genotype [33].

Analytical, diagnostic and therapeutic context of valine

• In this cross-sectional study we investigated associations between the COMT val158met polymorphism, which results in a 60-75% difference in enzyme activity between the val (high activity = H) and the met (low activity = L) variant, and skeletal phenotypes in 246 healthy pre/early pubertal girls [34].
• There is an excess of the val COMT allele (likelihood ratio = 4.48, P = 0.03) and a trend for an excess of the val/val COMT genotype (likelihood ratio = 4.97, P = 0.08, 2 df) in the heroin addicts compared to the HRR control group [35].
• DESIGN: EE during bicycling was determined by indirect calorimetry at three different loads (30, 40 and 60% of VO2max in eight subjects with the val/val-55 genotype (35+/-6 y weight=76.8+/-13.6 kg, VO2max=2.79+/-0.71 l/min) and eight subjects with the ala/ala-55 genotype (37+/-3 y, weight=78.3+/-16.5 kg, VO2max=2.66+/-0.41 l/min) [8].
• The effects of the intrarenal infusion of synthetic Asn1, val 5 angiotensin II (AII) (from 0.38 to 1 mug min-1) on the determinants of glomerular filtration have been studied [36].

References