scholarly journals Association between a SLC23A2 Gene Variation, Plasma Vitamin C Levels, and Risk of Different Diseases

Author(s):  
Hassan Sadek Darwish ◽  
Amal Al-Ghammari ◽  
Fatma Al-Amrani ◽  
Khaloud Al-Saadi ◽  
Munira Al-Hatmi ◽  
...  

Background: Vitamin C is an important plasma water-soluble antioxidant that plays an essential role in the absorption of iron, detoxification of exogenous compounds, and remaking vitamin E for the protection of lipid membranes. In addition, vitamin C is essential in the synthesis of collagen. Vitamin C concentrations of plasma are determined by dietary intake and genetic factors. Ascorbic acid is the functional form of vitamin C, which is transported into the cell through sodium vitamin C transporters (SVCTs). There are two forms of SVCTs which are SVCT1 encoded by the SLC23A1 gene and SVCT2 encoded by the SLC23A2. The SLC23A2 gene locus on human chromosome 20P12. It expresses in most human tissues, except lung and skeletal muscle that it is important in regulating the intracellular concentration of ascorbic acid to protect the cell from oxidative stress and promote type 1 collagen maturation. Maintaining proper concentrations of plasma and cellular vitamin C concentration is important for the normal metabolic function of the body and preventing several diseases. In the contrast, a low concentration of vitamin C caused by SLC23A2 variation can cause several chronic diseases. Our systematic review discusses four diseases related to the variation of SLC23A2 gene and plasma vitamin C levels which are glaucoma, acute coronary syndrome among women, gastric cancer, and HPV16-associated head and neck cancer. Methods: By using NCBI databases, specifically GenBank to analyze DNA sequence and mRNA sequence of SLC23A2 gene. GenBank file format was helpful to extract an accession number of the gene, number of amino acids, number of exons and introns, and length of nucleotides. FASTA format was also useful to retrieve the nucleotide sequence and get the function of the protein. BLAST was used to compare the protein product of the SLC23A2 gene between humans and Macaca mulatta (Rhesus monkey). Results: the accession number of the SLC23A2 gene was NC_000020.11, the number of exons found was 18, and the gene was located in chromosome 20. This gene encodes one of the two required transporters, and the encoded protein accounts for tissue-specific uptake of vitamin C. This gene had an official symbol of SLC23A1. And they found a significant association between the single-nucleotide polymorphism (SNP) rs1279683 (A > G) in SLC23A2 and an increased risk of POAG in homozygous G allele (GG) carriers. Also, POAG patients with this SNP appear to have a significantly lower level of plasma vitamin C compared to other genotypes. Finally, many organisms have the same gene, such as dogs, mice, rats, and chickens. Conclusion: there is a significant association between SLC23A2 gene mutation, increased risk for vitamin C deficiency, and several diseases. SNP in the SLC23A2 gene was significantly associated with a higher risk of POAG in GG allele carriers as well as lower plasma vitamin C concentration.

Author(s):  
Mary K Walingo ◽  

Vitamin C, also known as ascorbic acid, abounds in nature and is highly labile. It is a water-soluble vitamin that is lost in large amounts during food processing. It is a vitamin whose prescribed requirement across cultures is not uniform. For example , the prescribed requirement of vitamin C in Great Britain is 30mg/day, while in the U.S.A., it is 60mg/day and 100mg/day in Japan. These variations are unusual and point to the need for further research to establish the acceptable RDAs for diverse populations. The RDA for vitamin C should be more than the amount needed to prevent the occurrence of disease. Vitamin C plays significant functions in the body that enhance its role in the health status of the human body. The biochemical functions of vitamin C include: stimulation of certain enzymes, collagen biosynthesis, hormonal activation, antioxidant, detoxification of histamine, phagocytic functions of leukocytes, formation of nitrosamine, and proline hydroxylation amongst others. These functions are related to the health effects of vitamin C status in an individual. In human health, vitamin C has been associated with reduction of incidence of cancer, blood pressure, immunity, and drug metabolism and urinary hydroxyproline excretion, tissue regeneration. This vitamin is needed for the proper metabolism of drugs in the body through adequate hepatic mixed function oxidase system. Epidemiological data have revealed the preventive and curative role of vitamin C on certain disease conditions in the body though controversies still persist. Vitamin C is effective in protecting against oxidative damage in tissues and also suppresses formation of carcinogens like nitrosamines. There is an inverse relationship with blood pressure and both plasma vitamin C and Vitamin C. Vitamin C has a lowering effect on blood pressure, especially on systolic pressure more than a diastolic pressure. Low levels of plasma vitamin C are associated with stroke and with an increased risk of all cause mortality. Increased consumption of ascorbic acid raises serum ascorbic levels and could decrease the risk of death.


Blood ◽  
2013 ◽  
Vol 122 (21) ◽  
pp. 4743-4743
Author(s):  
Aisha Zaidi ◽  
Padmini Moffett

Contrary to most animals which are capable of obtaining ascorbic acid (vitamin C) by metabolizing glucose, humans require an exogenous source of vitamin C. It is a water-soluble vitamin found in various foods, including citrus fruits (oranges, lemons, grapefruit), green vegetables (peppers, broccoli, cabbage), tomatoes, and potatoes. It is essential for growth and repair of tissues, particularly blood vessels. Deficiency of vitamin C is relatively rare; the third National Health and Nutrition Examination Survey (NHANES III, 1988-1994) found approximately 13% of the US population to be vitamin C deficient. Smoking cigarettes lowers the amount of vitamin C in the body, so smokers are at a higher risk of deficiency. Additionally, alcoholics, the elderly, patients with psychiatric disorders and individuals who experience social isolation are also at risk. Symptoms can manifest after 3 months of deficient intake of vitamin C -containing foods. Since ascorbic acid is required for collagen synthesis, deficiency usually manifests with bleeding gums, ecchymoses, petechiae, coiled hairs and hyperkeratosis. Diagnosis can be established when plasma levels of vitamin C fall below 0.2mg/dl. There are currently no evidence based guidelines for supplementation once low levels are detected. We describe a case of a 33 year old Caucasian female seen in our clinic for easy bruising of 10 years duration. She would wake up in the morning with bruised arms and legs without any inciting trauma. She denied prolonged bleeding after dental extractions, frequent nose bleeds, menorrhagia any genitounrinary or gastrointestinal blood loss. Her exam revealed ecchymoses on her arms and legs with no evidence of perifollicular hemorrhage or gingival hyperplasia. Workup including CBC, Coagulation profile and Von Willibrand factor levels were all within normal limits. She had a vitamin C level of 0.1mg/dl. She was subsequently advised to increase vitamin C intake through fruits and vegetable and was started on vitamin C supplementation with 500mg twice a day for four weeks. Her repeat vitamin C level on her one month follow up was noted to be 1.9mg/dl. She noticed complete resolution of her symptoms. This case illustrates the fact that vitamin C deficiency should be excluded in adults presenting with bruising. It also offers a supplementation regimen that resulted in improvement of clinical symptoms as well as laboratory value normalization. Disclosures: No relevant conflicts of interest to declare.


2021 ◽  
pp. 373-379

Background. Vitamin C is one of the most important water-soluble vitamins. It is responsible for many important functions in the body, including: it has a positive effect on maintaining immunity, protects the body against free radicals, and also participates in the synthesis of hormones. Juices can be a good source of this vitamin. Most of the juices available on the market are processed products. Untreated juices, which do not contain added preservatives, sugar and are not pasteurized, constitute a smaller group on the market. Therefore, this group of juices can be a valuable product in human nutrition. Objective. The aim of the study was t o analyze the content of ascorbic acid (AA), dehydroascorbic acid (DHAA) and vitamin C (TAA) in non-preserved juices, depending on their type and storage time. Material and methods. The analysis of T AA, AA and DHAA content in juices was carried out in ten types of nonpreserved juices from two companies (A and B), purchased in a chain of retail outlets. The analyzed juices in company A were: sauerkraut and carrot, grapefruit, orange, apple and mandarin, while in company B: orange, apple, apple and quince, grapefruit and mandarin. In test 1, the first ten juices were analyzed, in test 2 - another ten juices after one month, in test 3 - juices from test 2 were used, and three days after opening the package and storing the juices in standard refrigeration conditions, the stability test of AA was analyzed. The AA and TAA contents were determined using the high performance liquid chromatography (HPLC) method. The DHAA content was calculated by subtracting the AA content from the TAA content. Results. The highest TAA content was found in citrus juices, i.e. grapefruit, orange and mandarin, and the lowest in sauerkraut and carrot juices and apple juice. Moreover, ascorbic acid in apple juice was characterized by the lowest durability. Conclusions. In the production of non-preserved apple juice, consideration should be given to the natural protection of ascorbic acid by the addition of citrus or other fruit juice, vegetable juice or by using a mild technology in the production process.


2019 ◽  
Vol 70 (10) ◽  
pp. 3555-3560
Author(s):  
Costinela Valerica Georgescu ◽  
Cristian Catalin Gavat ◽  
Doina Carina Voinescu

Ascorbic acid is a water-soluble vitamin provided with strong antioxidant action, that fulfills an important immune protective role of the body against infections and prevents various cancers appearance. The main goal of this study was to exactly quantify pure ascorbic acid in tablets of two pharmaceuticals. Proposed objective consisted in improvement and application of a iodometric titration method in ascorbic acid quantitative analysis. Ascorbic acid content per tablet in both studied pharmaceuticals was 173.84 mg, very close to official stated amount of active substance (180 mg). Allowed percentage deviation from declared content of pure ascorbic acid was only 3.42 %, below maximum value of � 5 % imposed by Romanian Pharmacopoeia 10-th Edition, according to European and International standards. Statistical analysis confirmed experimental obtained results and revealed low Standard Error value SE = 0.214476, which has fallen within normal limits. Confidence Level value (95.0 %) = 0.551328 and Standard Deviation SD = 0.525357. were within normal range of values. Relative Standard Deviation (Coefficient of variation or homogeneity) RSD = 26.268% was found below maximum range of accepted values (30-35%). P value = 7.44. 10-6 was located within normal limits, P [ 0.001, so the experimental obtained results has shown highest statistical significance. Thus, studied titration method can be successfully used in quantitative analysis of ascorbic acid from different samples.


2021 ◽  
Vol 64 ◽  
pp. 54-60
Author(s):  
D. R.  Useynov ◽  
E. F. Chelebiev ◽  
О. A. Denisova

The article presents data on the study of the effect of foliar water-soluble mineral fertilizer NOVATEK Solub K-Max 10-5-30 on the biochemical composition and commercial quality of apple fruits. A rise in vitamin C from the introduction of NOVATEK at a rate of 2.5 kg/ha indicates the effectiveness of this drug for optimizing the content of ascorbic acid in fruits. An increase in the content of monosaccharides and a decrease in disaccharides were found for all the studied rates of consumption of agrochemicals. The use of mineral fertilizer “Novatek Solub K-Max” contributed to increase the dry weight of fruits. The application of this mineral fertilizer is recommended for inclusion in the industry regulations for Apple cultivation as one of the elements of the technology. 


Antioxidants ◽  
2019 ◽  
Vol 8 (4) ◽  
pp. 96 ◽  
Author(s):  
Giacomo Lazzarino ◽  
Ilaria Listorti ◽  
Gabriele Bilotta ◽  
Talia Capozzolo ◽  
Angela Amorini ◽  
...  

Reactive oxygen species (ROS) are physiologically involved in functions like sperm maturation, capacitation and acrosome reaction, but their excess is involved in male infertility. Antioxidants in seminal plasma (SP) are an important factor balancing physiologic and harmful ROS activities. In this study, we determined and compared the full profiles of the water- and fat-soluble antioxidants in SP and serum of 15 healthy fertile subjects (ranging between the ages of 35 and 42 years). Ejaculates were obtained after 2–5 days of sexual abstinence. After liquefaction and withdrawal of an aliquot for the sperm count, samples were centrifuged to obtain SP. Thirty min after semen donation, a venous blood sample was collected from each subject. Donors with lower SP concentrations of ascorbic acid (n = 5) or α-tocopherol (n = 5) received a 4 week oral administration of either vitamin C (100 mg/day) or vitamin E (30 mg/day). They were then re-assayed to determine the SP and serum levels of ascorbic acid and α-tocopherol. SP and serum samples were properly processed and analyzed by HPLC methods suitable to determine water (ascorbic acid, glutathione (GSH) and uric acid) and fat-soluble (all-trans-retinoic acid, all-trans-retinol, α-tocopherol, carotenoids and coenzyme Q10) antioxidants. Data demonstrate that only ascorbic acid is higher in SP than in serum (SP/serum ratio = 4.97 ± 0.88). The other water-soluble antioxidants are equally distributed in the two fluids (GSH SP/serum ratio = 1.14 ± 0.34; uric acid SP/serum ratio = 0.82 ± 0.12). All fat-soluble antioxidants are about 10 times less concentrated in SP than in serum. In donors treated with vitamin C or vitamin E, ascorbic acid and α-tocopherol significantly increased in both fluids. However, the SP/serum ratio of ascorbic acid was 4.15 ± 0.45 before and 3.27 ± 0.39 after treatment, whilst those of α-tocopherol were 0.11 ± 0.03 before and 0.10 ± 0.02 after treatment. The results of this study, by showing the peculiar composition in water- and fat-soluble antioxidants SP, indicate that it is likely that still-unknown mechanisms allow ascorbic acid accumulation in SP against a concentration gradient. SP mainly relies its defenses on water- rather than fat-soluble antioxidants and on the mechanisms ensuring their transfer from serum.


2019 ◽  
Vol 104 (7) ◽  
pp. e2.58-e2
Author(s):  
Amy-Jo Hooley ◽  
Brandy Cox ◽  
David Devadason ◽  
James Hunter

AimTo assess if routine monitoring of vitamin C in long term parenteral nutrition (PN) patients should be routinely carried out, following a case report of a child with clinical vitamin C deficiency.MethodsVitamin C is an essential water soluble nutrient that cannot be synthesised or stored by humans.1 It is a potent antioxidant with anti-inflammatory and immune- supportive roles,1 Vitamin C levels are depleted in critically ill patients, those with restricted diets, smokers, and those with severe digestive disorders. The stability of micronutrients in PN bags is assumed but rarely confirmed, although a decrease in vitamin C content has been observed when there is a long delay between preparation and packaging.2 The patient, a five year old child stable on long term established full PN presented with a one month gradual reduction in mobility, refusal to weight bear, intermittent temperatures, raised CRP and asymptomatic hypercalcaemia on routine bloods. Investigations included bone profile, vitamin D, and parathyroid hormone levels, and routine sepsis screening. Following the extensive work up for systemic disorders and multiple conversations with orthopaedic and radiology specialists, it was discovered that the patient had bilateral metaphyseal irregularities, which were felt to be in keeping with recognised radiological appearances seen in severe vitamin C deficiency. As a result of this her PN bags were made manufactured and analysed in house quality control laboratory using a method involving UV –vis spectrophotometer to analyse the rate of oxidative decomposition of vitamin C within the bags.ResultsIn the United Kingdom children on long term PN programmes are routinely monitored for selected micronutrient deficiency, but not routinely vitamin C. The vitamin C was increased in the PN to three times the baseline dose for this patient, and a dramatic improvement in the patients symptoms were observed within 5 days, and radiological improvement was noted within 6 weeks after commencing treatment. Unfortunately baseline vitamin C levels were not obtained prior to starting treatment, but levels one month later still showed a significant clinical deficiency. The test bags that were analysed within the laboratory showed that on manufacture the bags contained 48.34 mg/L of ascorbic acid, but by 48 hours this had decreased to 8.5 mg/L.ConclusionVitamin C in PN is at significant risk of degradation by oxidation. Awareness of signs and symptoms of micronutrient deficiency and vigilance of micronutrient deficiencies not routinely measured in children on parenteral nutrition is important. Also more research is required into the oxidation rate of vitamin C in PN to establish how much is required within the PN bag to ensure the recommended daily intake in a PN dependent patient.ReferencesCarr AC, Rosengrave PC, Bayer S, Chambers S, Mehrtens J, Shaw GM. Hypovitaminosis C and vitamin C deficiency in critically ill patients despite recommended enteral and parenteral intakes. Crit Care. 2017;21(1):300. Published 2017 December 11. doi:10.1186/s13054-017-1891-yConroy S, Alsenani A, Sammons H. Factors influencing reported rate of paediatric medication errors. Archives of Disease in Childhood 2014;99:e3. https://adc.bmj.com/content/99/8/e3.19


Diabetologia ◽  
2019 ◽  
Vol 63 (2) ◽  
pp. 278-286 ◽  
Author(s):  
Markus Mattila ◽  
◽  
Iris Erlund ◽  
Hye-Seung Lee ◽  
Sari Niinistö ◽  
...  

Abstract Aims/hypothesis We studied the association of plasma ascorbic acid with the risk of developing islet autoimmunity and type 1 diabetes and examined whether SNPs in vitamin C transport genes modify these associations. Furthermore, we aimed to determine whether the SNPs themselves are associated with the risk of islet autoimmunity or type 1 diabetes. Methods We used a risk set sampled nested case–control design within an ongoing international multicentre observational study: The Environmental Determinants of Diabetes in the Young (TEDDY). The TEDDY study followed children with increased genetic risk from birth to endpoints of islet autoantibodies (350 cases, 974 controls) and type 1 diabetes (102 cases, 282 controls) in six clinical centres. Control participants were matched for family history of type 1 diabetes, clinical centre and sex. Plasma ascorbic acid concentration was measured at ages 6 and 12 months and then annually up to age 6 years. SNPs in vitamin C transport genes were genotyped using the ImmunoChip custom microarray. Comparisons were adjusted for HLA genotypes and for background population stratification. Results Childhood plasma ascorbic acid (mean ± SD 10.76 ± 3.54 mg/l in controls) was inversely associated with islet autoimmunity risk (adjusted OR 0.96 [95% CI 0.92, 0.99] per +1 mg/l), particularly islet autoimmunity, starting with insulin autoantibodies (OR 0.94 [95% CI 0.88, 0.99]), but not with type 1 diabetes risk (OR 0.93 [95% Cl 0.86, 1.02]). The SLC2A2 rs5400 SNP was associated with increased risk of type 1 diabetes (OR 1.77 [95% CI 1.12, 2.80]), independent of plasma ascorbic acid (OR 0.92 [95% CI 0.84, 1.00]). Conclusions/interpretation Higher plasma ascorbic acid levels may protect against islet autoimmunity in children genetically at risk for type 1 diabetes. Further studies are warranted to confirm these findings. Data availability The datasets generated and analysed during the current study will be made available in the NIDDK Central Repository at https://www.niddkrepository.org/studies/teddy.


2011 ◽  
Vol 108 (7) ◽  
pp. 1235-1245 ◽  
Author(s):  
Denise C. Hunter ◽  
Margot A. Skinner ◽  
Frances M. Wolber ◽  
Chris L. Booth ◽  
Jacelyn M. S. Loh ◽  
...  

In the elderly, immunosenescence and malnourishment can contribute to increased risk and severity of upper respiratory tract infections (URTI). Gold kiwifruit (Actinidia chinensis ‘Hort16A’) contains nutrients important for immune function and mitigation of symptoms of infection, including vitamins C and E, folate, polyphenols and carotenoids. The objective of the present study was to evaluate whether regular consumption of gold kiwifruit reduces symptoms of URTI in older people, and determine the effect it has on plasma antioxidants, and markers of oxidative stress, inflammation and immune function. A total of thirty-two community-dwelling people ( ≥ 65 years) participated in a randomised crossover study, consuming the equivalent of four kiwifruit or two bananas daily for 4 weeks, with treatments separated by a 4-week washout period. Participants completed the Wisconsin Upper Respiratory Symptom Survey-21 daily, and blood samples were collected at baseline and at the end of each treatment and washout period. Gold kiwifruit did not significantly reduce the overall incidence of URTI compared with banana, but significantly reduced the severity and duration of head congestion, and the duration of sore throat. Gold kiwifruit significantly increased plasma vitamin C, α-tocopherol and lutein/zeaxanthin concentrations, and erythrocyte folate concentrations, and significantly reduced plasma lipid peroxidation. No changes to innate immune function (natural killer cell activity, phagocytosis) or inflammation markers (high-sensitivity C-reactive protein, homocysteine) were detected. Consumption of gold kiwifruit enhanced the concentrations of several dietary plasma analytes, which may contribute to reduced duration and severity of selected URTI symptoms, offering a novel tool for reducing the burden of URTI in older individuals.


2015 ◽  
Vol 16 (2) ◽  
pp. 157-161 ◽  
Author(s):  
Dragan M. Pavlović ◽  
Merdin Š. Markišić ◽  
Aleksandra M. Pavlović

Abstract Vitamins are necessary factors in human development and normal brain function. Vitamin C is a hydrosoluble compound that humans cannot produce; therefore, we are completely dependent on food intake for vitamin C. Ascorbic acid is an important antioxidative agent and is present in high concentrations in neurons and is also crucial for collagen synthesis throughout the body. Ascorbic acid has a role in modulating many essential neurotransmitters, enables neurogenesis in adult brain and protects cells against infection. While SVCT1 enables the absorption of vitamin C in the intestine, SVCT2 is primarily located in the brain. Ascorbate deficiency is classically expressed as scurvy, which is lethal if not treated. However, subclinical deficiencies are probably much more frequent. Potential fields of vitamin C therapy are in neurodegenerative, cerebrovascular and affective diseases, cancer, brain trauma and others. For example, there is some data on its positive effects in Alzheimer’s disease. Various dosing regimes are used, but ascorbate is safe, even in high doses for protracted periods. Better designed studies are needed to elucidate all of the potential therapeutic roles of vitamin C.


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