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> Disorders > Disease or Syndrome > Hartnup Disease

Hartnup Disease

Hartnup Disease is a rare inherited disorder characterized by amino acid malabsorption and niacin deficiency.
It is caused by a mutation in the SLC6A19 gene, leading to impaired renal and intestinal transport of neutral amino acids.
Symptoms can include photosensitivity, ataxia, mood disturbances, and mental retardation.
Diagnosis typically involves urinary amino acid analysis and genetic testing.
Treatment focus on dietary management to suppliment amino acids and niacin.
With proper care, most individuals with Hartnup Disease can lead healthy, productive lives.

Most cited protocols related to «Hartnup Disease»

1
Biofilm Extraction and ECM Fractionation
Staphylococcal biofilms were grown as follows: single colonies grown on BHI plates were inoculated into 3 ml of BHI medium and incubated overnight at 37°C with shaking. The overnight cultures were 1000-fold diluted in 10 ml of BHIG medium in a conical tube (15 ml, Becton Dickinson) and were incubated at 37°C for 24 h under static conditions. After the incubation, the conical tubes were centrifuged at 8000 g for 10 min at 25°C, and the supernatants were discarded completely. To extract ECM components, the residual pellets were suspended with the indicated regents (100 μl) at various concentrations. The suspensions were centrifuged at 5000 g for 10 min at 25°C, and the supernatants were transferred to a new test tube (1.5 ml) as ECM fractions (Fig. S1B). If required, the suspensions were incubated for the indicated periods at 25°C before centrifugation.
Escherichia coli and P. aeruginosa colony biofilms were cultivated on YESCA agar plates at 25°C for 72 h and on LB agar plates at 37°C for 24 h respectively. After the incubation, the colony biofilms were scraped with a scraper and suspended with 1 ml of 1.5 M NaCl solution. These suspensions were centrifuged at 5000 g for 10 min at 25°C without any incubation period. The supernatants were harvested as ECM fractions.
Chiba A., Sugimoto S., Sato F., Hori S, & Mizunoe Y. (2014). A refined technique for extraction of extracellular matrices from bacterial biofilms and its applicability. Microbial Biotechnology, 8(3), 392-403.
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Publication 2014
Agar Biofilms Centrifugation Escherichia coli Hartnup Disease Pellets, Drug Pseudomonas aeruginosa Sodium Chloride Staphylococcus
2
Circadian Clock Model Optimization
All simulations were done in MATLAB and XPPAUT (Ermentrout, 2002 ). Bifurcation diagrams were made in XPPAUT (Schmal et al., 2014 (link)). The model was developed with the MATLAB toolbox SBToolBox2 (Schmidt and Jirstrand, 2006 (link)). All integrations were performed using the CVODE solver bundled in the toolbox. Parameter estimation was done using the genetic algorithm and simulated annealing algorithm from the MATLAB Global Optimization Toolbox.
During the optimization process, the clock was simulated in 8L:16D conditions for a total of 384 h, then released into free-running conditions for 300 h. The purpose of the first 360 h of simulation is to allow the system to reach its limit cycle; the scoring algorithm used only the last light/dark cycle to compute the score in entrained conditions. Similarly, the first 100 h in free-running conditions were discarded, as they contain transient effects, and the score was computed using the last 200 h of simulations. The wild type and the four single mutants (obtained by halving the relevant mRNA synthesis rates) were simulated in 8L:16D and continuous light. Additionally, the wild type was simulated in continuous darkness.
Because the model is very simple and meant to be more qualitative than quantitative, the optimization function was similar to the one defined in Locke et al. (2005a (link)), using arbitrary constraints on period length and amplitude rather than experimental data sets. The cost function is described in more detail in the Supplementary Information.
De Caluwé J., Xiao Q., Hermans C., Verbruggen N., Leloup J.C, & Gonze D. (2016). A Compact Model for the Complex Plant Circadian Clock. Frontiers in Plant Science, 7, 74.
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Publication 2016
Anabolism Darkness Hartnup Disease Light Reproduction RNA, Messenger Transients
3
Sugarcane Biotic and Abiotic Stress Protocols
Smut whips were collected in the most popular cultivar “ROC”22 in the Key Laboratory of Sugarcane Biology and Genetic Breeding, Ministry of Agriculture (Fuzhou, China), and stored at 4°C. Sugarcane varieties of Yacheng05–179 (smut resistant) and Liucheng03–182 (smut susceptible) were cultivated in the Key Laboratory of Sugarcane Biology and Genetic Breeding, Ministry of Agriculture (Fuzhou, China). All of the treatments were repeated independently three times.
For tissue distribution studies, six healthy 10 month old plants were selected. For each plant, the youngest fully expanded leaf viz +1 leaf with a visible dewlap (the collar between the leaf blade and sheath), all the buds, stem epidermis and the stem pith were taken for RNA extraction.
During biotic treatments, two-bud sets of both sugarcane genotypes, Yacheng05–179 and Liucheng03–182, were inoculated with 0.5 µL suspension containing 5×106 spores·mL−1 in 0.01% (v/v) Tween-20, while controls were mock inoculated with 0.01% (v/v) Tween-20 in sterile distilled water instead of spores [25] , [26] (link). All the inoculated sets were grown at 28°C in condition of 12 h light/12 h dark. Five buds from each of both genotypes were collected at each of the time point of 0 h, 6 h, 12 h, 24 h, 48 h, 72 h and 96 h. Samples were frozen in liquid nitrogen, and stored at −80°C.
During abiotic treatments, uniform four-month-old sugarcane tissue cultured plantlets of Yacheng05–179 were grown in water for one week and then transferred to the following seven different treatments in conical tubes at 28°C with 16 h light/8 h dark. The plantlets were treated with 5 mM SA solution, 25 µM MeJA (methyl jasmonate) in 0.1% (v/v) ethanol and 0.05% (v/v) Tween-20, 100 µM ABA, and 25% PEG (polyethylene glycol), and the plantlets were set to different periods of time (0 h, 6 h, 12 h and 24 h), respectively. In addition, plantlets were separately treated with 250 mM NaCl and 100 µM CuCl2 (copper chloride) for 0 h, 12 h, 24 h and 48 h [27] , [28]
. For H2O2 stress, the leaves were sprayed with 10 mM H2O2, and the sampling time points were 0 h, 6 h, 12 h and 24 h, respectively. After treatments, three sugarcane plantlets per time point were collected and immediately fixed in liquid nitrogen, and then kept at −80°C until used for analysis.
Su Y., Guo J., Ling H., Chen S., Wang S., Xu L., Allan A.C, & Que Y. (2014). Isolation of a Novel Peroxisomal Catalase Gene from Sugarcane, Which Is Responsive to Biotic and Abiotic Stresses. PLoS ONE, 9(1), e84426.
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Publication 2014
Aftercare Chlorides Copper cupric chloride Epidermis Ethanol Freezing Genotype Hartnup Disease Light methyl jasmonate Nitrogen Peroxide, Hydrogen Plants Polyethylene Glycols Saccharum Sodium Chloride Spores Stem, Plant Sterility, Reproductive Tissues Tween 20 Ustilaginales
4
Generation and Characterization of D2-Gpnmb+ Mice
Mice were housed in a 14 h light to 10 h dark cycle under previously described conditions [9 (link),15 (link)]. The Jackson Laboratory's (Bar Harbor, Maine, United States) pathogen surveillance program regularly screened for pathogens. All experiments were conducted in accordance with the Association for Research in Vision and Ophthalmology's statement on the use of animals in ophthalmic research and were approved by our institutional animal care and use committee. Modern DBA/2J (D2) mice (#000671, see [28 ]) have mutations in both Tyrp1 and Gpnmb. Although the majority of included data for modern D2 mice has been previously published, over 300 modern D2 mice were aged and analyzed over the same period of time as the mice of the other strains presented here. For the generation of the D2.Tyrp1B6GpnmbB6 strain, D2 mice were crossed to C57BL/6J (B6) to create F1s. Progeny carrying the B6 allele of both Gpnmb (GpnmbB6) and Tyrp1 (Tyrp1B6) were then backcrossed to D2 for ten generations. Brother/sister matings were then established to generate mice homozygous for GpnmbB6 and Tyrp1B6 and to maintain a stable D2.Tyrp1B6GpnmbB6 doubly homozygous colony.
The GpnmbR150X mutation arose in the early 1980s and became fixed in the ancestors of modern day D2 mice [16 (link)]. The sdy mutation alters coat color and occurred in DBA/2J (D2) mice in 1983. At that point, the DBA/2J-Dtnbp1sdy strain (hereafter referred to as D2-sdy) was separated from the main D2 colony. Genotyping a D2-sdy colony for Gpnmb in the early 2000s revealed that these mice had an original wild-type allele of Gpnmb (Gpnmb+). To develop the D2-Gpnmb+ strain, D2-sdy were crossed to modern D2 mice for three generations. We are continuing to backcross D2-Gpnmb+ to modern day D2 to further reduce the possibility of D2-Gpnmb+ mice harboring unknown genetic differences compared to modern day D2 mice. These higher generation D2-Gpnmb+ mice will be provided to the community. (They are being accepted for distribution by Jackson Laboratory mouse resources and will become strain DBA/2J-Gpnmb+/SjJ with stock # 007048). However, to hasten characterization of mice with a D2 genetic background and a wild type allele of Gpnmb, brother/sister matings that did not carry the sdy mutation were selected to establish the D2-Gpnmb+ strain that is homozygous for the wild-type Gpnmb allele and characterized here. These matings also produced the mice for clinical examinations, IOP measurements and assessment of glaucomatous damage. Analysis of 102 microsatellite markers (average spacing 13.25 cM) revealed no allelic differences between D2-Gpnmb+ and modern day D2.
Howell G.R., Libby R.T., Marchant J.K., Wilson L.A., Cosma I.M., Smith R.S., Anderson M.G, & John S.W. (2007). Absence of glaucoma in DBA/2J mice homozygous for wild-type versions of Gpnmb and Tyrp1. BMC Genetics, 8, 45.
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Publication 2007
Alleles Animals Brothers Genetic Background Glaucoma Hartnup Disease Homozygote Institutional Animal Care and Use Committees Light Mice, House Mice, Inbred DBA Mice, Laboratory Mutation Pathogenicity Physical Examination Reproduction Short Tandem Repeat Strains TYRP1 protein, human
5
Investigating Active and Passive Choice Responsibility

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Publication 2016
Feelings Fingers Hartnup Disease Pain Physical Examination Pulse Rate

Most recents protocols related to «Hartnup Disease»

1
Campylobacter Prevalence in Migratory and Broiler Chickens
This study was conducted in Damietta Governorate on the Egyptian Mediterranean coast (northern east Nile Delta), Egypt through the period from October 2021 to March 2022. A total of 200 cloacal swabs were collected from migratory and broiler chicken birds. Broiler chickens were selected from poultry farms and live bird markets near which the migratory birds were hunted at the similar time points. One hundred samples were obtained from migratory birds and 100 from broiler chickens; 50 from 5 poultry farms (10 for each farm) with deep litter system and 50 from 3 live bird markets located in different regions inside Damietta Governorate. Five broiler poultry farms were chosen on the basis of their owners’ willingness to permit the samples collection. Broiler chicken birds from the farms and live bird markets were selected randomly. The map of Damietta Governorate was constructed to highlight the location of the selected broiler chicken farms and live bird markets in relation to the rest of Damietta (Supplementary Fig. 9). The migratory birds that were found near to the examined farms and live bird markets were trapped by net traps, sampled, marked (to ensure that each bird was only sampled once) and photographed to detect its species. The cotton swabs were aseptically collected on 2 ml of Bolton broth (Oxoid, UK) then labeled and transported within 1 h in an ice box at 4 °C to the Reference Laboratory for Veterinary Quality control on Poultry production to perform further examinations. All samples were incubated at 42 °C for 48 h under microaerophilic conditions. Isolation and identification of Campylobacter spp.
Each enriched sample was streaked onto modified charcoal cefoperazone deoxycholate agar (Oxoid, UK) with antibiotic solution (cefoperazone sodium salt; 0.032 g, amphotericin B; 0.01 g and water; 5 ml) and incubated at 42 °C for 48 h. The suspected colonies were identified by morphological characteristics and Gram staining [45 ]. The suspected isolates were subjected to standard biochemical procedures, including tests for hippurate, acetate hydrolysis and catalase [46 ].
Tawakol M.M., Nabil N.M., Samir A., M. H.H., Yonis A.E., Shahein M.A, & Elsayed M.M. (2023). The potential role of migratory birds in the transmission of pathogenic Campylobacter species to broiler chickens in broiler poultry farms and live bird markets. BMC Microbiology, 23, 66.
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Publication 2023
Acetate Agar Amphotericin B Antibiotics Aves Campylobacter Catalase Cefoperazone Charcoal Chickens Deoxycholate Enterobacter Fowls, Domestic Gossypium Hartnup Disease hippurate Hydrolysis isolation Physical Examination Sodium, Cefoperazone Specimen Collection
2
EPS-producing Lacticaseibacillus paracasei Strains
Stock cultures of EPS-producing Lacticaseibacillus paracasei CIDCA 8339, CIDCA 83123 and CIDCA 83124 isolated from kefir grains were stored in 12% w/v non-fat milk solids at −80°C. Strains were grown in MRS broth (Difco Laboratories, Detroit, MI, USA) at 20°C (48 h), 30°C (24 h) and 37°C (24 h) under aerobic conditions previous to each experiments (Bengoa et al., 2018a (link)). Salmonella enterica serovar Enteritidis CIDCA 101 (Zavala et al., 2016 (link)) used for association/invasion experiments was grown in nutrient broth (Biokar Diagnostics, Beauvais, France) for 18 h at 37°C.
Bengoa A.A., Dueñas M.T., Prieto A., Garrote G.L, & Abraham A.G. (2023). Exopolysaccharide-producing Lacticaseibacillus paracasei strains isolated from kefir as starter for functional dairy products. Frontiers in Microbiology, 14, 1110177.
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Publication 2023
Bacteria, Aerobic Diagnosis Hartnup Disease Kefir Grains Lacticaseibacillus paracasei Milk, Cow's Nutrients Salmonella enteritidis Strains
3
Modulating Plantaricin Production via AI-2 Inhibitor
To determine AI-2's role in inducing effect, AI-2 inhibitor D-ribose (0, 200, 300, and 400 mM) was added to the co-culture system; then, the plantaricin production of these samples at 24 h was detected according to Section 2.2, as described earlier. The plantaricin production in co-culture was used as the positive control, and that in mono-culture was used as the negative control.
The AI-2 activity was detected by the bioluminescence of Vibrio harveyi BB170. After overnight culture at 30°C, V. harveyi BB170 was diluted in a ratio of 1:5,000 with fresh AB medium. The CFSs of the above samples were adjusted to pH 7.0, then filtrated with a 0.22-μm sterile filter, and added to the diluted BB170 culture at the percentage of 10%. The mixture was incubated at 30°C for 4 h under aerobic conditions (180 rpm), and 200 μl of aliquots were added to white 96-well plates (Thermo, USA) to measure relative luminescence units (RLUs) using the Multi-Detection Plate Reader (SpectraMax i3, Molecular Devices, USA). The suspension of strain BB170 in AB medium (1:5,000) was used as a blank control.
Nie R., Zhu Z., Qi Y., Wang Z., Sun H, & Liu G. (2023). Bacteriocin production enhancing mechanism of Lactiplantibacillus paraplantarum RX-8 response to Wickerhamomyces anomalus Y-5 by transcriptomic and proteomic analyses. Frontiers in Microbiology, 14, 1111516.
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Publication 2023
Bacteria, Aerobic Chronic Fatigue Syndrome Coculture Techniques Hartnup Disease Luminescence Medical Devices Ribose Sterility, Reproductive Strains Vibrio harveyi
4
Responses of Wheat Cultivar to Abiotic Stress
The bread wheat cultivar, CS, was grown in a greenhouse with controlled conditions of 26°C/14 h light and 20°C/10 h dark. Three different treatments were applied, namely salt stress, cold, and drought stress induced by polyethylene glycol (PEG). During the two-leaf stage, seedlings were treated with Hoagland liquid medium containing 200 mM NaCl for 1, 3, and 6 h (salt stress), 4°C for 1, 3, and 6 h (cold stress), and 20% PEG4000 for 1, 3, and 6 h (drought stress). Seedlings grown in a normal environment without treatment were set as the control. Three biological replicates were set for all the trials.
An X., Zhao S., Luo X., Chen C., Liu T., Li W., Zou L, & Sun C. (2023). Genome-wide identification and expression analysis of the regulator of chromosome condensation 1 gene family in wheat (Triticum aestivum L.). Frontiers in Plant Science, 14, 1124905.
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Publication 2023
Biopharmaceuticals Bread Cold Shock Stress Cold Temperature Droughts Hartnup Disease Light Plant Leaves Polyethylene Glycols Salt Stress Seedlings Sodium Chloride Triticum aestivum
5
Quantifying Bacterial Colonization in Spleen
To quantitate and identify bacteria, the spleen was removed and immediately placed into 500 μL of sterile Luria–Bertani (LB) medium. The spleen then was homogenized with a BioMasher (Nippi), and 200 μL was plated on LB agar plates and cultured either under aerobic conditions for 24 h or anaerobic conditions for 48 h at 37 °C. Colony-forming unit (CFU) were counted and calculated per organ.
Nakamura S., Nakamura K., Yokoi Y., Shimizu Y., Ohira S., Hagiwara M., Song Z., Gan L., Aizawa T., Hashimoto D., Teshima T., Ouellette A.J, & Ayabe T. (2023). Decreased Paneth cell α-defensins promote fibrosis in a choline-deficient L-amino acid-defined high-fat diet-induced mouse model of nonalcoholic steatohepatitis via disrupting intestinal microbiota. Scientific Reports, 13, 3953.
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Publication 2023
Agar Bacteria Bacteria, Aerobic Hartnup Disease Spleen Sterility, Reproductive

Top products related to «Hartnup Disease»

1
Fetal bovine serum (fbs) by Thermo Fisher Scientific
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Fetal Bovine Serum (FBS) is a cell culture supplement derived from the blood of bovine fetuses. FBS provides a source of proteins, growth factors, and other components that support the growth and maintenance of various cell types in in vitro cell culture applications.
2
Dulbecco modified eagle medium (dmem) by Thermo Fisher Scientific
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DMEM (Dulbecco's Modified Eagle's Medium) is a cell culture medium formulated to support the growth and maintenance of a variety of cell types, including mammalian cells. It provides essential nutrients, amino acids, vitamins, and other components necessary for cell proliferation and survival in an in vitro environment.
3
C57bl 6j mice by Jackson ImmunoResearch
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C57BL/6J mice are a widely used inbred mouse strain. They are a commonly used model organism in biomedical research.
4
Matrigel by BD
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Matrigel is a solubilized basement membrane preparation extracted from the Engelbreth-Holm-Swarm (EHS) mouse sarcoma, a tumor rich in extracellular matrix proteins. It is widely used as a substrate for the in vitro cultivation of cells, particularly those that require a more physiologically relevant microenvironment for growth and differentiation.
5
Lipofectamine 2000 by Thermo Fisher Scientific
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Lipofectamine 2000 is a cationic lipid-based transfection reagent designed for efficient and reliable delivery of nucleic acids, such as plasmid DNA and small interfering RNA (siRNA), into a wide range of eukaryotic cell types. It facilitates the formation of complexes between the nucleic acid and the lipid components, which can then be introduced into cells to enable gene expression or gene silencing studies.
6
Penicillin streptomycin by Thermo Fisher Scientific
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Penicillin/streptomycin is a commonly used antibiotic solution for cell culture applications. It contains a combination of penicillin and streptomycin, which are broad-spectrum antibiotics that inhibit the growth of both Gram-positive and Gram-negative bacteria.
7
Trizol reagent by Thermo Fisher Scientific
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TRIzol reagent is a monophasic solution of phenol, guanidine isothiocyanate, and other proprietary components designed for the isolation of total RNA, DNA, and proteins from a variety of biological samples. The reagent maintains the integrity of the RNA while disrupting cells and dissolving cell components.
8
Methyl thiazolyl tetrazolium (mtt) by Merck Group
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MTT is a colorimetric assay used to measure cell metabolic activity. It is a lab equipment product developed by Merck Group. MTT is a tetrazolium dye that is reduced by metabolically active cells, producing a colored formazan product that can be quantified spectrophotometrically.
9
Microplate reader by Agilent Technologies
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The Microplate reader is a versatile laboratory instrument used to measure and analyze the optical properties of samples in microplates. It is designed to quantify absorbance, fluorescence, or luminescence signals from various assays and applications.
10
Fetal bovine serum (fbs) by Merck Group
Sourced in United States, Germany, United Kingdom, Japan, Italy, China, Macao, Switzerland, France, Canada, Sao Tome and Principe, Spain, Australia, Ireland, Poland, Belgium, Denmark, India, Sweden, Israel, Austria, Brazil, Czechia, Netherlands, Portugal, Norway, Holy See (Vatican City State), New Zealand, Hungary, Senegal, Argentina, Thailand, Singapore, Ukraine, Mexico
FBS, or Fetal Bovine Serum, is a commonly used cell culture supplement. It is derived from the blood of bovine fetuses and provides essential growth factors, hormones, and other nutrients to support the growth and proliferation of a wide range of cell types in vitro.

More about "Hartnup Disease"

Hartnup Disease is a rare genetic disorder characterized by impaired absorption and transport of neutral amino acids, leading to amino acid malabsorption and niacin deficiency.
This condition is caused by a mutation in the SLC6A19 gene, which is responsible for the renal and intestinal transport of neutral amino acids.
Individuals with Hartnup Disease may experience a variety of symptoms, including photosensitivity, ataxia (lack of muscle coordination), mood disturbances, and mental retardation.
Diagnosis typically involves urinary amino acid analysis and genetic testing to identify the causative mutation.
Treatment for Hartnup Disease focuses on dietary management to supplement the patient's amino acid and niacin intake.
This may involve the use of amino acid supplements, as well as niacin supplementation, to address the deficiencies caused by the disorder.
In terms of related research techniques and materials, Hartnup Disease studies may utilize cell culture models, such as those using FBS (Fetal Bovine Serum) and DMEM (Dulbecco's Modified Eagle Medium) media, as well as animal models like C57BL/6J mice.
Additionally, researchers may employ techniques like Matrigel (a basement membrane matrix), Lipofectamine 2000 (a transfection reagent), Penicillin/Streptomycin (antibiotics), TRIzol reagent (for RNA extraction), MTT (a cell viability assay), and Microplate readers for data analysis.
With proper dietary management and care, most individuals with Hartnup Disease can lead healthy, productive lives, despite the challenges posed by this rare genetic condition.