scholarly journals Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion

2010 ◽  
Vol 31 (12) ◽  
pp. 1294-1303 ◽  
Author(s):  
Gabriella Esposito ◽  
Maria Rosaria Imperato ◽  
Luigi Ieno ◽  
Rosa Sorvillo ◽  
Vincenzo Benigno ◽  
...  
Keyword(s):  
Gene Deletion ◽  
Functional Study ◽  
Hereditary Fructose Intolerance ◽  
Fructose Intolerance ◽  
Natural Variants ◽  
Partial Gene Deletion

scholarly journals Functional characterization of natural variants found on the major stress inducible 70-kDa heat shock gene, HSPA1A, in humans

2018 ◽  
Vol 506 (4) ◽  
pp. 799-804 ◽  
Author(s):  
Ryan Oliverio ◽  
Peter Nguyen ◽  
Brianna Kdeiss ◽  
Sara Ord ◽  
Amanda J. Daniels ◽  
...  
Keyword(s):  
Heat Shock ◽  
Functional Characterization ◽  
Heat Shock Gene ◽  
Natural Variants ◽  
Shock Gene

Subcellular pathology of hereditary fructose intolerance

1968 ◽  
Vol 44 (6) ◽  
pp. 910-921 ◽  
Author(s):  
M.J. Phillips ◽  
J.A. Little ◽  
T.W. Ptak
Keyword(s):  
Hereditary Fructose Intolerance ◽  
Fructose Intolerance

scholarly journals HBAlab, A POSSIBLE MEANS OF METABOLIC CONTROL IN HEREDITARY FRUCTOSE INTOLERANCE (HFI) AND GALACTOSEMIA (G)

1985 ◽  
Vol 19 (10) ◽  
pp. 1082-1082
Author(s):  
H Böhles ◽  
J Schädle ◽  
W Endres ◽  
L S Shin ◽  
F Kollmann ◽  
...  
Keyword(s):  
Metabolic Control ◽  
Hereditary Fructose Intolerance ◽  
Fructose Intolerance

scholarly journals Characterization of Epidemic IncI1-Iγ Plasmids Harboring Ambler Class A and C Genes in Escherichia coli and Salmonella enterica from Animals and Humans

2015 ◽  
Vol 59 (9) ◽  
pp. 5357-5365 ◽  
Author(s):  
Hilde Smith ◽  
Alex Bossers ◽  
Frank Harders ◽  
Guanghui Wu ◽  
Neil Woodford ◽  
...  
Keyword(s):  
Escherichia Coli ◽  
Salmonella Enterica ◽  
Phylogenetic Trees ◽  
Functional Study ◽  
Content Type ◽  
Gene Associations ◽  
Genes Encoding ◽  
Marked Resistance

ABSTRACTThe aim of the study was to identify the plasmid-encoded factors contributing to the emergence and spread of epidemic IncI1-Iγ plasmids obtained fromEscherichia coliandSalmonella entericaisolates from animal and human reservoirs. For this, 251 IncI1-Iγ plasmids carrying various extended-spectrum β-lactamase (ESBL) or AmpC β-lactamase genes were compared using plasmid multilocus sequence typing (pMLST). Thirty-two of these plasmids belonging to different pMLST types were sequenced using Roche 454 and Illumina platforms. Epidemic IncI1-Iγ plasmids could be assigned to various dominant clades, whereas rarely detected plasmids clustered together as a distinct clade. Similar phylogenetic trees were obtained using only the plasmid backbone sequences, showing that the differences observed between the plasmids belonging to distinct clades resulted mainly from differences between their backbone sequences. Plasmids belonging to the various clades differed particularly in the presence/absence of genes encoding partitioning and addiction systems, which contribute to stable inheritance during cell division and plasmid maintenance. Despite this, plasmids belonging to the various phylogenetic clades also showed marked resistance gene associations, indicating the circulation of successful plasmid-gene combinations. The variation intraYandexcAgenes found in IncI1-Iγ plasmids is conserved within pMLST sequence types and plays a role in incompatibility, although functional study is needed to elucidate the role of these genes in plasmid epidemiology.

scholarly journals Sequencing of the Canine Cytochrome P450 CYP2C41 Gene and Genotyping of Its Polymorphic Occurrence in 36 Dog Breeds

2021 ◽  
Vol 8 ◽  
Author(s):  
Emre Karakus ◽  
Clarissa Prinzinger ◽  
Silke Leiting ◽  
Joachim Geyer
Keyword(s):  
Cytochrome P450 ◽  
Drug Metabolism ◽  
Gene Deletion ◽  
Homologous Sequence ◽  
Pharmacokinetic Studies ◽  
Metabolizing Enzymes ◽  
Genomic Level ◽  
Very High

Cytochrome P450 (CYP) drug metabolizing enzymes play an important role in efficient drug metabolism and elimination. Many CYPs are polymorphic and, thereby, drug metabolism can vary between individuals. In the case of canine CYP2C41, gene polymorphism was identified. However, as the first available canine genome sequences all were CYP2C41 negative, this polymorphism could not be clarified at the genomic level. The present study provides an exact characterization of the CYP2C41 gene deletion polymorphism at the genomic level and presents a PCR-based genotyping method that was used for CYP2C41 genotyping of 1,089 individual subjects from 36 different dog breeds. None of the Bearded Collie, Bernese Mountain, Boxer, Briard, French Bulldog or Irish Wolfhound subjects had the CYP2C41 gene in their genomes. In contrast, in the Chinese Char-Pei, Siberian Husky, Schapendoes and Kangal breeds, the CYP2C41 allele frequency was very high, with values of 67, 57, 43, and 34%, respectively. Interestingly, the site of gene deletion was identical for all CYP2C41 negative dogs, and all CYP2C41 positive dogs showed highly homologous sequence domains upstream and downstream from the CYP2C41 gene. CYP2C41 genotyping can now be routinely used in future pharmacokinetic studies in canines, in order to identify genetically-based poor or extensive drug metabolizers. This, together with more extensive in vitro drug screening for CYP2C41 substrates will help to determine the clinical relevance of CYP2C41, and to optimize drug treatment. Although the relative abundance of the CYP2C41 protein in the canine liver seems to not be very high, this CYP could substantially contribute to hepatic drug metabolism in dogs expressing CYP2C41 from both alleles and, when CYP2C41 shows higher catalytic activity to a given drug than other hepatic metabolic enzymes.

scholarly journals Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance

Nutrients ◽  
2019 ◽  
Vol 11 (10) ◽  
pp. 2397 ◽  
Author(s):  
Di Dato ◽  
Spadarella ◽  
Puoti ◽  
Caprio ◽  
Pagliardini ◽  
...  
Keyword(s):  
Liver Injury ◽  
Genetic Disorder ◽  
Liver Steatosis ◽  
Daily Intake ◽  
Young Patients ◽  
Hereditary Fructose Intolerance ◽  
Fructose Intake ◽  
Fructose Intolerance ◽  
Carbohydrate Deficient Transferrin ◽  
Aldolase B

Background: Hereditary fructose intolerance (HFI) is a rare genetic disorder of fructose metabolism due to aldolase B enzyme deficiency. Treatment consists of fructose, sorbitol, and sucrose (FSS)-free diet. We explore possible correlations between daily fructose traces intake and liver injury biomarkers on a long-term period, in a cohort of young patients affected by HFI. Methods: Patients’ clinical data and fructose daily intake were retrospectively collected. Correlations among fructose intake, serum alanine aminotransferase (ALT) level, carbohydrate-deficient transferrin (CDT) percentage, liver ultrasonography, genotype were analyzed. Results: We included 48 patients whose mean follow-up was 10.3 ± 5.6 years and fructose intake 169 ± 145.4 mg/day. Eighteen patients had persistently high ALT level, nine had abnormal CDT profile, 45 had signs of liver steatosis. Fructose intake did not correlate with ALT level nor with steatosis severity, whereas it correlated with disialotransferrin percentage (R2 0.7, p < 0.0001) and tetrasialotransferrin/disialotransferrin ratio (R2 0.5, p = 0.0001). p.A150P homozygous patients had lower ALT values at diagnosis than p.A175D variant homozygotes cases (58 ± 55 IU/L vs. 143 ± 90 IU/L, p = 0.01). Conclusion: A group of HFI patients on FSS-free diet presented persistent mild hypertransaminasemia which did not correlate with fructose intake. Genotypes may influence serum liver enzyme levels. CDT profile represents a good marker to assess FSS intake.

scholarly journals Pitfalls in the Diagnosis of Hereditary Fructose Intolerance

PEDIATRICS ◽  
2020 ◽  
Vol 146 (2) ◽  
pp. e20193324
Author(s):  
Alexander Y. Kim ◽  
Joel J. Hughes ◽  
Angela Pipitone Dempsey ◽  
Krista Sondergaard Schatz ◽  
Tao Wang ◽  
...  
Keyword(s):  
Hereditary Fructose Intolerance ◽  
Fructose Intolerance
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