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Journal articles on the topic 'Lactase gene (LCT)'

Author: Grafiati

Published: 24 April 2022

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1

Płoszaj, Tomasz, Krystyna Jędrychowska-Dańska, and Henryk Witas. "Frequency of lactase persistence genotype in a healthy Polish population." Open Life Sciences 6, no. 2 (2011): 176–79. http://dx.doi.org/10.2478/s11535-010-0114-1.

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AbstractThe majority of mammals are unable to digest lactose due to post-weaning deactivation of the LCT gene, which is responsible for encoding the enzyme lactase (i.e., adult-type hypolactasia). A substitution of C with T at position −13910 bp upstream of the LCT gene has been linked to the lactase persistence phenotype in European populations. We investigated the frequency of LCT-13910C>T polymorphism in 223 blood donors from central Poland. All samples were genotyped by polymerase chain reaction and direct sequencing. The LCT-13910 T allele (lactase persistence) was present in 51% of in

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Bogdanova, N. M., A. I. Khavkin, and O. L. Kolobova. "Prospects of fermented milk products in children with primary hypolactasia of the adult type." Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 65, no. 3 (2020): 160–68. http://dx.doi.org/10.21508/1027-4065-2020-65-3-160-168.

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Lactose (β-galactosyl-1,4 glucose) is milk sugar, the main disaccharide of human and other mammalian breast milk. Lactase is intestinal disaccharidase that catalyzes the lactose hydrolysis. The lactase gene LCT controls biological function of the enzyme. The age-related genetically determined feature of disaccharide expression, epigenetic factors, and natural selection with persistent tolerance to milk sugar throughout lifetime has divided the human population according to the LCT gene into two phenotypes: lactase persistent and lactase non-persistent. There is conflicting evidence that the la

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Goda, T., H. Yasutake, Y. Suzuki, S. Takase, and O. Koldovsky. "Diet-induced changes in gene expression of lactase in rat jejunum." American Journal of Physiology-Gastrointestinal and Liver Physiology 268, no. 6 (1995): G1066—G1073. http://dx.doi.org/10.1152/ajpgi.1995.268.6.g1066.

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To explore the mechanisms by which jejunal lactase activity is modified by carbohydrate and/or fat intake, mRNA levels and the absolute synthesis rate of lactase-phlorizin hydrolase (LPH) were determined in 6-wk-old rats that were fed either low-starch diets containing long-chain triacylglycerol (LCT, 73% energy as corn oil) or medium-chain triacylglycerol (MCT, 66% energy as MCT, 7% energy as corn oil), or a high-starch diet (70% energy as cornstarch) for 7 days. LPH mRNA levels in the jejunum were similar between LCT-fed and MCT-fed rats, but animals fed the high-starch diet exhibited a grea

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Rasinpera, H. "Transcriptional downregulation of the lactase (LCT) gene during childhood." Gut 54, no. 11 (2005): 1660–61. http://dx.doi.org/10.1136/gut.2005.077404.

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Abaturov, Alexandr Ye, Yuri M. Stepanov, and Anna A. Nikulina. "TREATMENT OF LACTASE DEFICIENCY IN CHILDREN’S OBESITY WITH GENOTYPE C/C 13910 OF LACTASE GENE." Wiadomości Lekarskie 72, no. 1 (2019): 17–21. http://dx.doi.org/10.36740/wlek201901103.

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Introduction: Excess lactose in the diet of modern man causes the development of not only lactase deficiency, but it can be a factor that contributes to obesity. The aim: To study associations between obesity and genotype C/C 13910 of lactase gene (LCT) in children, to investigate the effectiveness of treatment using drug exogenous lactase and a low-lactose diet. Materials and methods: genotyping of lactase gene by real-time polymerase chain reaction, determining the level of lactose maldigestion by hydrogen breath test (HBT), estimating the insulin resistance with the HOMA-IR index in 70 obes

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Popadowska, Agnieszka, and Agnieszka Kempinska-Podhorodecka. "Relation of the C/T-13910 LCT Polymorphism with Body Composition Measures and Their Modulation by Dairy Products in a Caucasian Men." American Journal of Men's Health 15, no. 2 (2021): 155798832110072. http://dx.doi.org/10.1177/15579883211007272.

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The C/T-13910 LCT is closely associated with lactase persistence and LCT has emerged as a new candidate gene for obesity, in particular in northern Europeans. The aim of this research is to investigate to what degree sex determines the association between the LCT variant and anthropometric traits in a cohort of healthy individuals. We recruited 1000 (500 males and 500 females aged 18–65 years) healthy blood donors. The C/T-13910 LCT polymorphism was genotyped using TaqMan assays. All individuals were phenotyped with respect to anthropometric characteristics. Prevalence of genotypes was 22.7% C

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Kuokkanen, Mikko, Jorma Kokkonen, Nabil Sabri Enattah, et al. "Mutations in the Translated Region of the Lactase Gene (LCT) Underlie Congenital Lactase Deficiency." American Journal of Human Genetics 78, no. 2 (2006): 339–44. http://dx.doi.org/10.1086/500053.

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Piepoli, Ada, Enrico Schirru, Angela Mastrorilli, et al. "Genotyping of the Lactase-Phlorizin Hydrolase C/T-13910 Polymorphism by Means of a New Rapid Denaturing High-Performance Liquid Chromatography-Based Assay in Healthy Subjects and Colorectal Cancer Patients." Journal of Biomolecular Screening 12, no. 5 (2007): 733–39. http://dx.doi.org/10.1177/1087057107301328.

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Adult-type hypolactasia results from the progressive decline of lactase-phlorizin hydrolase activity in enterocytes after weaning. Lactase nonpersistence may determine a primary lactose intolerance with reduced diary product consumption, which is possibly related to an increased risk of colon cancer. Recently, a genetic variant C/T—13910 upstream of the lactase-phlorizin hydrolase ( LCT) gene has been strongly correlated with the lactase persistence/nonpersistence trait in both family and case-control studies. The authors validate a denaturing high-performance liquid chromatography (dHPLC)—bas

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Nardone, Olga Maria, Francesco Manfellotto, Caterina D’Onofrio, et al. "Lactose Intolerance Assessed by Analysis of Genetic Polymorphism, Breath Test and Symptoms in Patients with Inflammatory Bowel Disease." Nutrients 13, no. 4 (2021): 1290. http://dx.doi.org/10.3390/nu13041290.

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Many patients with inflammatory bowel disease (IBD) restrict dairy products to control their symptoms. The aim of the study was to investigate the prevalence of lactose intolerance assessed with hydrogen breath test (H-BT) in IBD patients in clinical remission compared to a sex, age and BMI matched control population. We further detected the prevalence of three single nucleotide polymorphisms of the lactase (LCT) gene: the lactase non persistence LCT-13910 CC (wildtype) and the intermediate phenotype LCT-22018 CT and LCT-13910 AG; finally, we assess the correlation between genotype and H-BT. A

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Thomsen, P. D., M. Johansson, J. T. Troelsen, and L. Andersson. "The lactase phlorizin hydrolase (LCT) gene maps to pig chromosome 15q13." Animal Genetics 26, no. 1 (2009): 49–52. http://dx.doi.org/10.1111/j.1365-2052.1995.tb02621.x.

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11

Nardone, O. M., F. Manfellotto, C. D’Onofrio, et al. "P621 Lactose intolerance assessed by analysis of genetic polymorphism, breath test and symptoms in patients with inflammatory bowel disease." Journal of Crohn's and Colitis 15, Supplement_1 (2021): S561—S562. http://dx.doi.org/10.1093/ecco-jcc/jjab076.741.

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Abstract Background Many patients with inflammatory bowel disease (IBD) make restriction of dairy products to control their symptoms. We aimed to investigate the prevalence of lactose intolerance assessed with hydrogen breath test (H-BT) in IBD patients in clinical remission with symptoms suggestive for lactose intolerance, compared to a sex- age- and BMI-matched control population. We further detected the prevalence of three single nucleotide polymorphisms of the lactase (LCT) gene: the lactase non persistence LCT-13910CC (genetic wildtype) and the intermediate phenotype LCT-22018AG, LCT-1391

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HARVEY, C. B., M. F. FOX, P. A. JEGGO, N. MANTEI, S. POVEY, and D. M. SWALLOW. "Regional localization of the lactase-phlorizin hydrolase gene, LCT, to chromosome 2q21." Annals of Human Genetics 57, no. 3 (1993): 179–85. http://dx.doi.org/10.1111/j.1469-1809.1993.tb01593.x.

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Viun, T. I., and L. M. Pasiyeshvili. "Diagnostic and prognostic value of polymorphism of candidate genes of secondary osteoporosis in patients with chronic pancreatitis and hypertension." Herald of Pancreatic Club 43, no. 2 (2019): 52–59. http://dx.doi.org/10.33149/vkp.2019.02.08.

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Study of features of the combined course of a number of diseases of internal organs is caused by their mutually enhancing negative influence and need to correct diagnostic and therapeutic measures. Among such nosologies, attention is drawn to chronic pancreatitis (CP) and hypertension. Their comorbidity increases a risk of atypical clinical manifestations, torpid to conventional therapy and early development of complications. One of these complications is secondary osteoporosis. Developing structural and functional changes in the bone tissue are not only a compensatory response to an increased

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Sokolova, Maria V., Eugene V. Vasilyev, Andrey I. Kozlov, et al. "Polymorphism C/T-13910 of the LCT gene regulatory region and lactase deficiency in Eurasian populations." Ecological genetics 5, no. 3 (2007): 25–34. http://dx.doi.org/10.17816/ecogen5325-34.

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Genetically determined deficiency of the lactase enzyme in adults (primary hypolactasia) is a recessive trait. As shown earlier, in some European populations primary hypolactasia is determined by carrying the CC genotype at the single-nucleotide polymorphism (SNP) LCT*С/T-13910. In this work allele and genotype frequencies were estimated for the single-nucleotide polymorphism (SNP) LCT*C/ T-13910 in 7 samples (346 individuals in total), representing Eurasian populations (Saami, Mari, Russians from the Volga-Ural Area, Kazakhs, Uyghurs, Buriats, Arabs). For part of these groups and for some of

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Khabarova, Yulia, Suvi Torniainen, Erkki Savilahti, Mauri Isokoski, Kari Mattila, and Irma Järvelä. "The -13914G>A variant upstream of the lactase gene (LCT) is associated with lactase persistence/non-persistence." Scandinavian Journal of Clinical and Laboratory Investigation 70, no. 5 (2010): 354–57. http://dx.doi.org/10.3109/00365513.2010.491554.

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Bezrukova, Alina A., Mariya I. Yarmolinskaya, Olga V. Sazonova, Marina V. Komarova, and Spiridonova Natalia V. Spiridonova Natalia V. "Milk consumption and gastrointestinal symptoms in preschool girls with different lactase genotypes." I.P. Pavlov Russian Medical Biological Herald 29, no. 3 (2021): 379–88. http://dx.doi.org/10.17816/pavlovj72047.

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AIM: To analyze the frequency of milk consumption and subjective symptoms of intolerance to dairy products in the population of three- to six-year-old girls (born and resident in Samara) based on the genotype of the lactase gene. MATERIALS AND METHODS: We included 103 preschool girls ranging three to six years of age. Parents were questioned about the frequency of milk consumption by the child (per week), as well as the presence of gastrointestinal symptoms in their children (abdominal pain, bloating, flatulence and diarrhea) and the suspected association of symptoms with milk consumptio

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Verkhoturova, Svetlana V., Svetlana U. Tsarenok, Vladimir V. Gorbunov, and Tatyana A. Aksenova. "Polymorphism of some genes of bone tissue metabolism (VDR Bsm1 c.IVS7G>A, LCT 13910 T>C, COL1A 12046 G->T) among the representatives of Russian and Buryat nationalities." Osteoporosis and Bone Diseases 20, no. 1 (2017): 3–6. http://dx.doi.org/10.14341/osteo201713-6.

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Aim: to study the frequency of genotypes of the polymorphous markers of bone remodeling (vita-min D receptor gene Bsm1 c.IVS7G> A, the lactase gene LCT 13910 T> C and collagen gene COL1A 12046 G-> T) in healthy people and patients with osteopo-rosis (OP) among the indigenous population of Trans-baikalia of Russian and Buryat nationalities. Methods: 97 women with OP were examined: 49 Russian and 48 Buryat women aged from 50 to 80 years. 123 healthy women of the same age group were included in the control group. DNA sam-ples for molecular genetic analysis were taken from periphera

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Marozik, Pavel, Irma Mosse, Vidmantas Alekna, et al. "Association Between Polymorphisms of VDR, COL1A1, and LCT Genes and Bone Mineral Density in Belarusian Women With Severe Postmenopausal Osteoporosis." Medicina 49, no. 4 (2013): 28. http://dx.doi.org/10.3390/medicina49040028.

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Background and Objective. Variation of osteoporosis in the population is the result of an interaction between the genotype and the environment, and the genetic causes of osteoporosis are being widely investigated. The aim of this study was to analyze the association between the polymorphisms of the vitamin D receptor (VDR), type I collagen (COL1A1), and lactase (LCT) genes and severe postmenopausal osteoporosis as well as bone mineral density (BMD). Material and Methods. A total of 54 women with severe postmenopausal osteoporosis and 77 controls (mean age, 58.3 years [SD, 6.2] and 56.7 years [

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Kienast, Wolfgang, Klaus Haeseler, and Reinhard Herterich. "Protein-losing enteropathy following the Fontan procedure in a child with intestinal lactase deficiency treated with lactose-free diet." Cardiology in the Young 24, no. 1 (2013): 175–77. http://dx.doi.org/10.1017/s1047951112001928.

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AbstractA 12-year-old girl presented with a protein-losing enteropathy. Symptoms started 4 weeks after undergoing the Fontan procedure at the age of 1.5 years for mitral atresia, ventricular septal defect, and double-outlet right ventricle. Upon referral for 3 weeks of rehabilitation after multiple interventional measures and drug treatments, she appeared in a dystrophic state, with decreased plasma protein and electrolyte levels along with occasional tetanic convulsions. Blood glucose levels after a lactose tolerance test were markedly reduced. The introduction of a lactose-free diet was quic

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Kozlov, A. I. "Polymorphism of the genetic determinants of bone mineral metabolism in various groups of the Komi people." VESTNIK ARHEOLOGII, ANTROPOLOGII I ETNOGRAFII, no. 4(55) (December 23, 2021): 151–61. http://dx.doi.org/10.20874/2071-0437-2021-55-4-12.

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The subject of the study is autochthonous population of the Northern and Middle Cis-Urals: Komi-Permyaks, Komi (Zyryans), and Komi-Izhems. The aim of the study is to compare the population frequencies of the LCT (rs4988235) and VDR (FokI rs2228570 and BsmI rs1544410) genes and to consider the contribution of environ-mental and cultural factors to the formation of differences in the genetic determinants of bone tissue metabolism. In total, 181 Komi-Permyak, 223 Komi, and 200 Komi-Izhem subjects were tested clinically and genetically. The evaluation consisted of the determination of polymorphic

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Imtiaz, F., E. Savilahti, A. Sarnesto, et al. "The T/G 13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population." Journal of Medical Genetics 44, no. 10 (2007): e89-e89. http://dx.doi.org/10.1136/jmg.2007.051631.

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Shrestha, Aahana, Linda Samuelsson, Pankaja Sharma, David Cameron-Smith, Li Day, and Amber Milan. "Acute Digestive Symptoms and Lactose Malabsorption to Cow Milk or Sheep Milk in Female Dairy Avoiders." Current Developments in Nutrition 4, Supplement_2 (2020): 777. http://dx.doi.org/10.1093/cdn/nzaa052_046.

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Abstract Objectives Sheep milk (SM) is compositionally different from cow milk (CM), but maintains the nutritional benefits of CM, making it a potential alternative for CM avoiders. While dairy avoidance is often due to intolerance to lactose, which is also found in SM, there are consumer anecdotal reports that SM is better tolerated than CM. Thus, this clinical trial was undertaken to assess acute digestive comfort and lactose malabsorption comparing SM and CM in female dairy avoiders. Methods In a double-blinded, randomized cross over trial, 30 dairy avoiding females (aged 20–30 years) drank

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Bulhões, A. C., H. A. S. Goldani, F. S. Oliveira, U. S. Matte, R. B. Mazzuca, and T. R. Silveira. "Correlation between lactose absorption and the C/T-13910 and G/A-22018 mutations of the lactase-phlorizin hydrolase (LCT) gene in adult-type hypolactasia." Brazilian Journal of Medical and Biological Research 40, no. 11 (2007): 1441–46. http://dx.doi.org/10.1590/s0100-879x2007001100004.

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Huang, Tao, Ming Ding, K. M. Bergholdt Helle, et al. "Dairy Consumption and Body Mass Index Among Adults: Mendelian Randomization Analysis of 184802 Individuals from 25 Studies." Clinical Chemistry 64, no. 1 (2018): 183–91. http://dx.doi.org/10.1373/clinchem.2017.280701.

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Abstract BACKGROUND Associations between dairy intake and body mass index (BMI) have been inconsistently observed in epidemiological studies, and the causal relationship remains ill defined. METHODS We performed Mendelian randomization (MR) analysis using an established dairy intake-associated genetic polymorphism located upstream of the lactase gene (LCT-13910 C/T, rs4988235) as an instrumental variable (IV). Linear regression models were fitted to analyze associations between (a) dairy intake and BMI, (b) rs4988235 and dairy intake, and (c) rs4988235 and BMI in each study. The causal effect

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Mulcare, Charlotte A., Michael E. Weale, Abigail L. Jones, et al. "The T Allele of a Single-Nucleotide Polymorphism 13.9 kb Upstream of the Lactase Gene (LCT) (C−13.9kbT) Does Not Predict or Cause the Lactase-Persistence Phenotype in Africans." American Journal of Human Genetics 74, no. 6 (2004): 1102–10. http://dx.doi.org/10.1086/421050.

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Lehtimäki, Terho, Nina Hutri-Kähönen, Mika Kähönen, et al. "Adult-type hypolactasia is not a predisposing factor for the early functional and structural changes of atherosclerosis: the Cardiovascular Risk in Young Finns Study." Clinical Science 115, no. 9 (2008): 265–71. http://dx.doi.org/10.1042/cs20070360.

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Individuals suffering from ATH (adult-type hypolactasia), defined by the LCT (gene encoding lactase-phlorizin hydrolase) C/C−13910 genotype (rs4988235), use less milk and dairy products and may have higher plasma HDL (high-density lipoprotein) and lower triacylglycerol (triglyceride) concentrations than their counterparts without ATH. To investigate the effects of ATH status on the early markers of atherosclerosis, we examined its association with CIMT (carotid intima-media thickness), CAC (carotid artery compliance) and brachial artery FMD (flow-mediated dilation) in a young population-based

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Huang, Tao, Dianjianyi Sun, Yoriko Heianza, et al. "Dairy Intake and Body Composition and Cardiometabolic Traits among Adults: Mendelian Randomization Analysis of 182041 Individuals from 18 Studies." Clinical Chemistry 65, no. 6 (2019): 751–60. http://dx.doi.org/10.1373/clinchem.2018.300335.

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Abstract BACKGROUND Associations between dairy intake and body composition and cardiometabolic traits have been inconsistently observed in epidemiological studies, and the causal relationship remains ill-defined. METHODS We performed Mendelian randomization analysis using an established genetic variant located upstream of the lactase gene (LCT-13910 C/T, rs4988235) associated with dairy intake as an instrumental variable (IV). The causal effects of dairy intake on body composition and cardiometabolic traits (lipids, glycemic traits, and inflammatory factors) were quantified by IV estimators am

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Coluccia, Enza, Patrizia Iardino, Diego Pappalardo, et al. "Congruency of Genetic Predisposition to Lactase Persistence and Lactose Breath Test." Nutrients 11, no. 6 (2019): 1383. http://dx.doi.org/10.3390/nu11061383.

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The physiological decline of lactase production in adulthood, in some individuals, is responsible for the so-called “Lactose Intolerance.” This clinical syndrome presents with gastrointestinal and non-gastrointestinal symptoms following the consumption of dairy containing food. Lactose intolerance can be evaluated by means of the Lactose Breath Test (phenotype) and/or genetic evaluation of lactase-gene polymorphism (genotype). A comparison of the two tests was carried out in a large number of symptomatic adult subjects, which are selected and not representative of the general population. Congr

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Jasielska, Martyna, and Urszula Grzybowska-Chlebowczyk. "Lactose Malabsorption and Lactose Intolerance in Children with Inflammatory Bowel Diseases." Gastroenterology Research and Practice 2019 (December 1, 2019): 1–6. http://dx.doi.org/10.1155/2019/2507242.

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Background. Insufficient vitamin D and calcium intake associated with the restricted intake of milk and dairy products can lead to poor health outcomes like malnutrition and abnormal bone mineralization. The aim of the study was to estimate the prevalence of primary and secondary lactose intolerance in children with IBD. Methods. The study included 107 patients (mean age 14.07±3.58 years; 46.7% boys) which includes 43 patients with Crohn’s disease (CD), 31 with ulcerative colitis (UC), and 33 children with functional abdominal pain (AP-FGID). We analysed the result of the hydrogen breath test

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Mook, Alexander, Matthias H. Beck, Jonathan P. Baker, Nigel P. Minton, Peter Dürre, and Frank R. Bengelsdorf. "Autotrophic lactate production from H2 + CO2 using recombinant and fluorescent FAST-tagged Acetobacterium woodii strains." Applied Microbiology and Biotechnology 106, no. 4 (2022): 1447–58. http://dx.doi.org/10.1007/s00253-022-11770-z.

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AbstractLactate has various uses as industrial platform chemical, poly-lactic acid precursor or feedstock for anaerobic co-cultivations. The aim of this study was to construct and characterise Acetobacterium woodii strains capable of autotrophic lactate production. Therefore, the lctBCD genes, encoding the native Lct dehydrogenase complex, responsible for lactate consumption, were knocked out. Subsequently, a gene encoding a d-lactate dehydrogenase (LDHD) originating from Leuconostoc mesenteroides was expressed in A. woodii, either under the control of the anhydrotetracycline-inducible promote

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Zeng, Lin, Nicole C. Martino, and Robert A. Burne. "Two Gene Clusters Coordinate Galactose and Lactose Metabolism in Streptococcus gordonii." Applied and Environmental Microbiology 78, no. 16 (2012): 5597–605. http://dx.doi.org/10.1128/aem.01393-12.

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ABSTRACTStreptococcus gordoniiis an early colonizer of the human oral cavity and an abundant constituent of oral biofilms. Two tandemly arranged gene clusters, designatedlacandgal, were identified in theS. gordoniiDL1 genome, which encode genes of the tagatose pathway (lacABCD) and sugar phosphotransferase system (PTS) enzyme II permeases. Genes encoding a predicted phospho-β-galactosidase (LacG), a DeoR family transcriptional regulator (LacR), and a transcriptional antiterminator (LacT) were also present in the clusters. Growth and PTS assays supported that the permease designated EIILactrans

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Bauernfeind, A., I. Stemplinger, R. Jungwirth, and H. Giamarellou. "Characterization of the plasmidic beta-lactamase CMY-2, which is responsible for cephamycin resistance." Antimicrobial Agents and Chemotherapy 40, no. 1 (1996): 221–24. http://dx.doi.org/10.1128/aac.40.1.221.

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The phenotype of Klebsiella pneumoniae HEL-1 indicates a plasmidic cephamycinase gene (blaCMY-2). Its sequence shows one open reading frame coding for a protein of 381 amino acids. CMY-2 is classified as class C beta-lactamase that is closely related to the plasmidic enzymes BIL-1 and LAT-1 and the chromosomal AmpC of Citrobacter freundii. The blaCMY-2 gene possibly was translocated onto a plasmid of C. freundii which spread to K. pneumoniae.

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Bret, L., C. Chanal-Claris, D. Sirot, E. B. Chaibi, R. Labia та J. Sirot. "Chromosomally Encoded AmpC-Type β-Lactamase in a Clinical Isolate of Proteus mirabilis". Antimicrobial Agents and Chemotherapy 42, № 5 (1998): 1110–14. http://dx.doi.org/10.1128/aac.42.5.1110.

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ABSTRACT A clinical strain of Proteus mirabilis (CF09) isolated from urine specimens of a patient displayed resistance to amoxicillin (MIC >4,096 μg/ml), ticarcillin (4,096 μg/ml), cefoxitin (64 μg/ml), cefotaxime (256 μg/ml), and ceftazidime (128 μg/ml) and required an elevated MIC of aztreonam (4 μg/ml). Clavulanic acid did not act synergistically with cephalosporins. Two β-lactamases with apparent pIs of 5.6 and 9.0 were identified by isoelectric focusing on a gel. Substrate and inhibition profiles were characteristic of an AmpC-type β-lactamase with a pI of 9.0. Amplification by PCR wit

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Lyukshina, N. G. "Experience with the use of a ketogenic diet with type 1 glucose transporter deficiency (De Vivo disease)." Russian Journal of Child Neurology 16, no. 3 (2021): 63–68. http://dx.doi.org/10.17650/2073-8803-2021-16-3-63-68.

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De Vivo disease is characterized by early epileptic encephalopathy, delayed psychomotor development, spasticity, the formation of microcephaly, ataxia, dysarthria, alternating hemiplegia, and a decrease in glucose and lactate levels in the cerebrospinal fluid. Epilepsy is pharmacoresistant and the therapy for this syndrome is the ketogenic diet (until the time when will development of genetic targeted therapy). In GLUT1 deficiency syndrome, mutations are found in the SLC2A1 gene that lead to a decrease in glucose transport across the cell membrane. The “classic” ketogenic diet is a special hig

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D'Andrea, Marco M., Elisabetta Nucleo, Francesco Luzzaro та ін. "CMY-16, a Novel Acquired AmpC-Type β-Lactamase of the CMY/LAT Lineage in Multifocal Monophyletic Isolates of Proteus mirabilis from Northern Italy". Antimicrobial Agents and Chemotherapy 50, № 2 (2006): 618–24. http://dx.doi.org/10.1128/aac.50.2.618-624.2006.

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ABSTRACT We report multifocal detection (four different cities in northern Italy) of Proteus mirabilis isolates resistant to both oxyimino- and 7-α-methoxy-cephalosporins and producing a novel acquired AmpC-like β-lactamase. The enzyme, named CMY-16, is a variant of the CMY/LAT lineage, which differs from the closest homologues, CMY-4 and CMY-12, by a single amino acid substitution (A171S or N363S, respectively) and from CMY-2 by two substitutions (A171S and W221R). Expression of the cloned bla CMY-16 gene in Escherichia coli decreased susceptibility to penicillins, cephalosporins, and aztreon

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Bauernfeind, A., I. Stemplinger, R. Jungwirth, R. Wilhelm, and Y. Chong. "Comparative characterization of the cephamycinase blaCMY-1 gene and its relationship with other beta-lactamase genes." Antimicrobial Agents and Chemotherapy 40, no. 8 (1996): 1926–30. http://dx.doi.org/10.1128/aac.40.8.1926.

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A plasmidic beta-lactamase which hydrolyzed cephamycins was first detected and reported in 1989. At that time its description was restricted to phenotypic characteristics. We analyzed nucleotide sequence of its gene and explored it genetic relationship with other bla genes. The deduced amino acid sequence of the blaCMY-1 product was compared with those of other known plasmidic cephamycinases and of chromosomal AmpC beta-lactamases. The results indicate that the relationship of CMY-1 is closest to MOX-1 among the plasmidic cephamycinases and to AmpC of Pseudomonas aeruginosa among the chromosom

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McNeill, Nathan, Alessia Nasca, Aurelio Reyes, et al. "Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo." Neurology Genetics 3, no. 4 (2017): e162. http://dx.doi.org/10.1212/nxg.0000000000000162.

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Objective:To investigate the genetic etiology of a patient diagnosed with leukoencephalopathy, brain calcifications, and cysts (LCC).Methods:Whole-exome sequencing was performed on a patient with LCC and his unaffected family members. The variants were subject to in silico and in vitro functional testing to determine pathogenicity.Results:Whole-exome sequencing uncovered compound heterozygous mutations in EARS2, c.328G>A (p.G110S), and c.1045G>A (p.E349K). This gene has previously been implicated in the autosomal recessive leukoencephalopathy with thalamus and brainstem involvement and h

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Chen, Guanhui, Yadong Zhang, Jianfeng Liang, et al. "Deregulation of Hexokinase II Is Associated with Glycolysis, Autophagy, and the Epithelial-Mesenchymal Transition in Tongue Squamous Cell Carcinoma under Hypoxia." BioMed Research International 2018 (2018): 1–15. http://dx.doi.org/10.1155/2018/8480762.

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The glycolytic enzyme Hexokinase (HKII) participates in tumor glycolysis and the progression of various cancers, but its clinicopathological effect on the progression of tongue squamous cell carcinoma (TSCC) and its role in glycolysis, autophagy, and the epithelial-mesenchymal transition of TSCC in a hypoxic microenvironment remain unknown. Our results showed that HKII expression was dramatically increased in TSCC tissues and that its upregulation was significantly associated with the presence of pathological differentiation, lymph node metastasis, and clinical stage. The level of autophagy-sp

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Xiao, Jian, Xiaoyan Zhu, Bo Kang, et al. "Hydrogen Sulfide Attenuates Myocardial Hypoxia-Reoxygenation Injury by Inhibiting Autophagy via mTOR Activation." Cellular Physiology and Biochemistry 37, no. 6 (2015): 2444–53. http://dx.doi.org/10.1159/000438597.

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Background: Autophagy plays a significant role in myocardial ischemia reperfusion (IR) injury. Hydrogen sulfide (H2S) has been demonstrated to protect cardiomyocytes against IR injury, while whether it has anti-autophagy effect has not been known. The aim of this study was to investigate whether H2S regulates autophagy during IR injury and its possible mechanism. Methods and Results: The cardiomyocytes of neonatal rats were randomized into Con, hypoxia-reoxygenation (HR) and H2S protection groups. The severity of cell injury was evaluated by cell vitality (MTT) and lactate dehydrogenase (LDH)

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Tsakris, Athanassios, Aggeliki Poulou, Fani Markou, et al. "Dissemination of Clinical Isolates of Klebsiella oxytoca Harboring CMY-31, VIM-1, and a New OXY-2-Type Variant in the Community." Antimicrobial Agents and Chemotherapy 55, no. 7 (2011): 3164–68. http://dx.doi.org/10.1128/aac.00102-11.

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ABSTRACTThe aim of the present study was to investigate the epidemiological link of multidrug-resistantKlebsiella oxytocaisolates causing community-onset infections among patients attending our outpatient department and to investigate the underlying resistance mechanisms. The isolates were tested by agar dilution MICs, phenotypic carbapenemase testing, enterobacterial repetitive intergenic consensus-PCR, and pulsed-field gel electrophoresis (PFGE). PCR assays and nucleotide sequencing were employed for the identification ofblagene types and the mapping of the integron-containing metallo-β-lact

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Oozeer, R., J. P. Furet, N. Goupil-Feuillerat, J. Anba, J. Mengaud, and G. Corthier. "Differential Activities of Four Lactobacillus casei Promoters during Bacterial Transit through the Gastrointestinal Tracts of Human-Microbiota-Associated Mice." Applied and Environmental Microbiology 71, no. 3 (2005): 1356–63. http://dx.doi.org/10.1128/aem.71.3.1356-1363.2005.

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ABSTRACT In a previous study using fusion of the deregulated lactose promoter lacTp* and reporter genes, we suggested that Lactobacillus casei could initiate de novo protein synthesis during intestinal transit. In order to confirm this finding and extend it to other promoters, we adopted a reverse transcriptase quantitative PCR (RT-QPCR) approach combined with a transcriptional fusion system consisting of luciferase genes under the control of four promoters (ccpA, dlt, ldh, and lacT*) from L. casei DN-114 001. Promoter expression was monitored during cell growth, and variable luciferase activi

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Elsayed, Hassan Reda Hassan, Mohammad El-Nablaway, Basma Adel Khattab, et al. "Independent of Calorie Intake, Short-term Alternate-day Fasting Alleviates NASH, With Modulation of Markers of Lipogenesis, Autophagy, Apoptosis, and Inflammation in Rats." Journal of Histochemistry & Cytochemistry 69, no. 9 (2021): 575–96. http://dx.doi.org/10.1369/00221554211041607.

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Non-alcoholic steatohepatitis (NASH) is a worldwide health problem. Alternate-day fasting (ADF), although thought to be aggressive, has proven safety and efficacy. We aimed to evaluate the effect of short-term ADF against already established high-fat-fructose (HFF)-induced NASH, independent of the amount of calorie intake, and to study the effect of ADF on lipogenesis, apoptosis, and hepatic inflammation. Male Sprague Dawley rats were divided into two groups: (1) negative control and (2) NASH group fed on HFF for 9 weeks, and then randomized into two subgroups of either HFF alone or with ADF p

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Wong, Lee, Eng Saw, Jia Lim, Yue Zhou, Arthur Richards, and Peipei Wang. "MicroRNA Let-7d-3p Contributes to Cardiac Protection via Targeting HMGA2." International Journal of Molecular Sciences 20, no. 7 (2019): 1522. http://dx.doi.org/10.3390/ijms20071522.

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We tested the hypothesis that Let-7d-3p contributes to cardiac cell protection during hypoxic challenge. Myoblast H9c2 cells and primary neonatal rat ventricular cardiomyocytes (NRVM) were transfected with five selected miRNA mimics. Both cell lines were subjected to 0.2% oxygen hypoxia. The protective effects of these miRNAs were determined by assessment of cell metabolic activity by CCK8 assay and measurement of lactate dehydrogenase (LDH) release as a marker of cell injury. Apoptosis and autophagy flux were assessed by Annexin V/7-AAD double staining and the ratio of LC3 II/I with Baf-A1 tr

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Nesrine, Lenchi, Kebbouche Salima, Khelfaoui Mohamed Lamine, et al. "Phylogenetic characterization and screening of halophilic bacteria from Algerian salt lake for the production of biosurfactant and enzymes." World Journal of Biology and Biotechnology 5, no. 2 (2020): 1. http://dx.doi.org/10.33865/wjb.005.02.0294.

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Environments containing significant concentration of NaCl such as salt lakes harbor extremophiles microorganisms which have a great biotechnology interest. To explore the diversity of Bacteria in Chott Tinsilt (Algeria), an isolation program was performed. Water samples were collected from the saltern during the pre-salt harvesting phase. This Chott is high in salt (22.47% (w/v). Seven halophiles Bacteria were selected for further characterization. The isolated strains were able to grow optimally in media with 10–25% (w/v) total salts. Molecular identification of the isolates was performed by

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Mądry, Edyta, Aleksandra Lisowska, Jarosław Kwiecień, et al. "Adult-type hypolactasia and lactose malabsorption in Poland." Acta Biochimica Polonica 57, no. 4 (2010). http://dx.doi.org/10.18388/abp.2010_2448.

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The available data on the incidence of lactose malabsorption are contradictory. Potential bias in random selection is a major drawback of studies performed to-date. Moreover, molecular analysis of polymorphism -13910 C>T upstream of the lactase (LCT) gene (NM_005915.4:c.1917+326C>T; rs4988235) has not been reported in those studies. Therefore, in this study we aimed to assess genetic predisposition and clinical manifestation of adult-type hypolactasia (ATH). In two-hundred randomly chosen healthy subjects (HS) aged from 18 to 20 years, the presence of -13910 C>T polymorphic variants u

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Torniainen, Suvi, Roberta Freddara, Taina Routi, et al. "Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD)." BMC Gastroenterology 9, no. 1 (2009). http://dx.doi.org/10.1186/1471-230x-9-8.

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Vicente, Mário, Edita Priehodová, Issa Diallo, et al. "Population history and genetic adaptation of the Fulani nomads: inferences from genome-wide data and the lactase persistence trait." BMC Genomics 20, no. 1 (2019). http://dx.doi.org/10.1186/s12864-019-6296-7.

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Abstract Background Human population history in the Holocene was profoundly impacted by changes in lifestyle following the invention and adoption of food-production practices. These changes triggered significant increases in population sizes and expansions over large distances. Here we investigate the population history of the Fulani, a pastoral population extending throughout the African Sahel/Savannah belt. Results Based on genome-wide analyses we propose that ancestors of the Fulani population experienced admixture between a West African group and a group carrying both European and North Af

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Fazeli, Walid, Sigrid Kaczmarek, Martin Kirschstein, and René Santer. "A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe." BMC Gastroenterology 15, no. 1 (2015). http://dx.doi.org/10.1186/s12876-015-0316-0.

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Abaturov, Aleksandr, and Anna Nikulina. "Expression of galectin 9 mRNA in lactose maldigestion and children’s obesity." International Journal of Integrative Pediatrics and Environmental Medicine 4 (September 2, 2019). http://dx.doi.org/10.36013/ijipem.v4i1.52.

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OBJECTIVES AND STUDY: To investigate the association of mRNA expression of galectin - 9 (Gal - 9) and lactose maldigestion in children’s obesity with different genotypes of the lactase gene (LCT).METHODS: The study involved 85 children with obesity (BMI>97th percentile) aged 6-18 years. The study defined genotypes of LCT (material for investigation - venous blood), included expression of Gal - 9 mRNA (material for investigation - buccal epithelium) by real-time polymerase chain reaction analysis, and utilized the study of lactose maldigestion by Hydrogen breath testing. The first group of o

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Hollfelder, Nina, Hiba Babiker, Lena Granehäll, Carina M. Schlebusch, and Mattias Jakobsson. "The Genetic Variation of Lactase Persistence Alleles in Sudan and South Sudan." Genome Biology and Evolution 13, no. 5 (2021). http://dx.doi.org/10.1093/gbe/evab065.

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Abstract Lactase persistence (LP) is a well-studied example of a Mendelian trait under selection in some human groups due to gene-culture coevolution. We investigated the frequencies of genetic variants linked to LP in Sudanese and South Sudanese populations. These populations have diverse subsistence patterns, and some are dependent on milk to various extents, not only from cows but also from other livestock such as camels and goats. We sequenced a 316-bp region involved in regulating the expression of the LCT gene on chromosome 2, which encompasses five polymorphisms that have been associate

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