Database : MEDLINE
Search on : Riboflavin and Deficiency [Words]
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[PMID]: 29506485
[Au] Autor:Cogburn LA; Smarsh DN; Wang X; Trakooljul N; Carré W; White HB
[Ad] Address:Department of Animal and Food Sciences, University of Delaware, Newark, DE, 19716, USA. cogburn@udel.edu.
[Ti] Title:Transcriptional profiling of liver in riboflavin-deficient chicken embryos explains impaired lipid utilization, energy depletion, massive hemorrhaging, and delayed feathering.
[So] Source:BMC Genomics;19(1):177, 2018 Mar 05.
[Is] ISSN:1471-2164
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: A strain of Leghorn chickens (rd/rd), unable to produce a functional riboflavin-binding protein, lays riboflavin-deficient eggs, in which all embryos suddenly die at mid-incubation (days 13-15). This malady, caused by riboflavin deficiency, leads to excessive lipid accumulation in liver, impaired ß-oxidation of lipid, and severe hypoglycemia prior to death. We have used high-density chicken microarrays for time-course transcriptional scans of liver in chicken embryos between days 9-15 during this riboflavin-deficiency-induced metabolic catastrophe. For comparison, half of rd/rd embryos (n = 16) were rescued from this calamity by injection of riboflavin just prior to incubation of fertile eggs from rd/rd hens. RESULTS: No significant differences were found between hepatic transcriptomes of riboflavin-deficient and riboflavin-rescued embryos at the first two ages (days 9 and 11). Overall, we found a 3.2-fold increase in the number of differentially expressed hepatic genes between day 13 (231 genes) and day 15 (734 genes). Higher expression of genes encoding the chicken flavoproteome was more evident in rescued- (15 genes) than in deficient-embryos (4 genes) at day 15. Diminished activity of flavin-dependent enzymes in riboflavin-deficient embryos blocks catabolism of yolk lipids, which normally serves as the predominant source of energy required for embryonic development. CONCLUSIONS: Riboflavin deficiency in mid-stage embryos leads to reduced expression of numerous genes controlling critical functions, including ß-oxidation of lipids, blood coagulation and feathering. Surprisingly, reduced expression of feather keratin 1 was found in liver of riboflavin-deficient embryos at e15, which could be related to their delayed feathering and sparse clubbed down. A large number of genes are expressed at higher levels in liver of riboflavin-deficient embryos; these up-regulated genes control lipid storage/transport, gluconeogenesis, ketogenesis, protein catabolism/ubiquitination and cell death.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Data-Review
[do] DOI:10.1186/s12864-018-4568-2

  2 / 1773 MEDLINE  
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[PMID]: 29477226
[Au] Autor:Saedisomeolia A; Ashoori M
[Ad] Address:School of Nutrition Sciences and Dietetics, Tehran University of Medical Sciences, Tehran, Iran; School of Medicine, Western Sydney University, Sydney, NSW, Australia. Electronic address: a_saedi@tums.ac.ir.
[Ti] Title:Riboflavin in Human Health: A Review of Current Evidences.
[So] Source:Adv Food Nutr Res;83:57-81, 2018.
[Is] ISSN:1043-4526
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Riboflavin is a water-soluble vitamin, which was initially isolated from milk. There are two coenzyme forms of riboflavin, flavin mononucleotide and flavin adenine dinucleotide, in which riboflavin plays important roles in the enzymatic reactions. Riboflavin is found in a wide variety of animal and plant foods. Meat and dairy products are the major contributors of riboflavin dietary intake. In this chapter, the latest evidence on the relationship between riboflavin status and specific health risks will be reviewed. Also, some of the mechanisms by which riboflavin exerts its roles will be discussed. The evidence accrued suggests that riboflavin is an antioxidant nutrient which may prevent lipid peroxidation and reperfusion oxidative injury. Moreover, riboflavin deficiency may increase the risk of some cancers. Riboflavin may also exert a neuroprotective effects in some neurological disorders (e.g., Parkinson disease, migraine, and multiple sclerosis) through its role in some pathways that are hypothesized to be impaired in neurological disorders such as antioxidation, myelin formation, mitochondrial function, and iron metabolism.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180225
[Lr] Last revision date:180225
[St] Status:In-Data-Review

  3 / 1773 MEDLINE  
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[PMID]: 29191464
[Au] Autor:Zhang H; Kiuchi T; Hirayama C; Katsuma S; Shimada T
[Ad] Address:Graduate School of Agricultural and Life Sciences, The University of Tokyo, 1-1-1 Yayoi, Bunkyo-ku, Tokyo 113-8657, Japan.
[Ti] Title:Bombyx ortholog of the Drosophila eye color gene brown controls riboflavin transport in Malpighian tubules.
[So] Source:Insect Biochem Mol Biol;92:65-72, 2018 Jan.
[Is] ISSN:1879-0240
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:The Drosophila eye color gene brown is known to control the transport of pteridine precursors in adult eyes. The Brown protein belongs to the ATP-binding cassette (ABC) transporter G family, which includes proteins encoded by the genes brown, scarlet, and white. These genes are responsible for pigmentation in Drosophila and the domestic silkworm Bombyx mori. Although orthologs of brown are conserved among insects, the function of this gene is only known in Drosophila. Here, we elucidated the function of the B. mori ortholog Bm-brown. We examined the spatial and temporal expression profiles of Bm-brown and found that this gene was specifically and continuously expressed in larval Malpighian tubules (MTs), indicating this gene has a special function in MTs. We then successfully obtained a Bm-brown knockout (KO) strain based on a wild-type (WT) strain using the clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated nuclease 9 (Cas9) system. We found that larval MTs of the KO strain were white, whereas those of WT were yellow. It is known that larval yellow MTs of WT are due to the accumulation of riboflavin. Therefore, we compared the riboflavin contents of MTs of KO and WT strains, and found that the riboflavin level in the KO strain was 20 fold less than that in WT during the 5th instar period. MTs are known to exhibit a similar milky color in w-3 mutant larvae due to a deficiency of riboflavin accumulation. The responsible gene for w-3 mutant is the Bmwh3 gene, which is orthologous to Drosophila white. Thus, we speculate that Bm-brown is heterodimerized with Bmwh3, similar to Brown/White in Drosophila, and acts as a riboflavin transporter in silkworm MTs.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180219
[Lr] Last revision date:180219
[St] Status:In-Data-Review

  4 / 1773 MEDLINE  
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[PMID]: 29381305
[Au] Autor:Beketova NA; Sokolnikov AA; Kodentsova VM; Pereverzeva OG; Vrzhesinskaya OA; Kosheleva OV; Gmoshinskaya MV
[Ti] Title:[The vitamin status of pregnant women in Moscow: effect of multivitamin-mineral supplements].
[So] Source:Vopr Pitan;85(5):77-85, 2016.
[Is] ISSN:0042-8833
[Cp] Country of publication:Russia (Federation)
[La] Language:rus
[Ab] Abstract:Examination of the vitamin status of 102 pregnant women (19-41 years old) from Moscow (gestational age 6-38 weeks) in winter and spring 2015 has been conducted. The lack of vitamin B2 (blood serum level of riboflavin <5 ng/ml), D (25(OH)D level <30 ng/ml) and ß-carotene (<20 mg/dL) occurred in 49-66% of pregnant women. The percentage of persons with reduced serum levels of vitamin B6 (<4.8 mg/l), folic acid (<3 mg/l), vitamin A (<30 mg/dL), and E (<0.8 mg/dl) was insignificant and amounted 6-8%. All of the women had an adequate supply with vitamins C (>0.4 mg/dL) and B12 (>150 ng/L). The frequency of the combined deficiency of two vitamins was 29%, of three vitamins - 21%, four - 10%, five - 5%. Only 8% of women were sufficiently supplied with all 8 studied vitamins and ß-carotene. A positive correlation (p<0.001) between the concentration of vitamin E and gestation term occurred. ß-Carotene blood serum level raised with increasing gestation term in women receiving multivitamin-mineral supplements (VMS) and directly correlated (p<0.05) with vitamin E serum level. In 63 women who were not taking VMS, blood serum level of vitamins A, D, C, B2, B6, B12, folic acid and ß-carotene was lower, and the frequency of inadequate supply, on the contrary, was significantly higher, compared to 39 women receiving VMS. Blood serum concentration of vitamins C, A, D, B6 and folic acid in women who were not taking VMS was significantly reduced (p<0.05) with increasing gestation term, whereas in women consuming VMS vitamin blood serum level was maintained at a constant level. The data obtained demonstrate advisability of VMS intake during pregnancy to maintain vitamin status of pregnant women at a satisfactory level and to reduce the risk of birth defects in infants.
[Mh] MeSH terms primary: Dietary Supplements
Minerals/blood
Pregnancy/blood
Prenatal Nutritional Physiological Phenomena/physiology
Vitamins/blood
[Mh] MeSH terms secundary: Adult
Female
Humans
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Minerals); 0 (Vitamins)
[Em] Entry month:1802
[Cu] Class update date: 180216
[Lr] Last revision date:180216
[Js] Journal subset:IM
[Da] Date of entry for processing:180131
[St] Status:MEDLINE

  5 / 1773 MEDLINE  
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[PMID]: 29378095
[Au] Autor:Markova YM; Sheveleva SA
[Ti] Title:[Assessment of the impact of vitamin and dietary fiber content in the diet on the characteristics of protective colon microbiota populations of rats].
[So] Source:Vopr Pitan;84(6):38-45, 2015.
[Is] ISSN:0042-8833
[Cp] Country of publication:Russia (Federation)
[La] Language:rus
[Ab] Abstract:The content of lactobacilli and enterobacteria in the experiment in rats with varying levels of vitamins and dietary fiber was studied. The study was performed on 48 male weanling Wistar rats randomized into 8 groups, with the creation of vitamin deficiency (30 d.) and its further compensation (5 d.). Vitamin content in the semisynthetic diet in rats of the control group N 1 corresponded to 100% of a daily adequate intake. In the similar composition of the diet of the control group N 2 wheat bran was added in amount of 5% of the weight of the diet. In groups N 3­8 rats received a diet with the reduced amount of vitamin mixture by 5 times (20% of the adequate intake) and the total exclusion of tocopherol, thiamine and riboflavin from the mixture. The wheat bran (5% of diet mass) was added to the diets in Groups N 4, 6, 8. At the stage of compensation of deficiency rats were fed with the diets with increased content of vitamin mixture: Group 5­6 to 80% 7­8 to 200% (100 and 220% of the adequate intake, respectively), and the groups N 3­4 continued to receive deficient diet with or without wheat bran until the end of the experiment. After 35 days rats were anesthetized with ether, decapitated, necropsied and the cecum segments were selected for quantitative microbiological analysis of its contents. It has been shown that the addition of wheat bran to vitamin deficient diet lead to the reduction of the manifestation of physical sign of hypovitaminosis. It also eliminated the differences in the integrated index of growth and development of rats in comparison with the group without vitamin deficiency. It was found that the vitamin deficiency in the diet, regardless of the presence or absence of wheat bran, led to a significant reduction of the number of lactobacilli in the intestinal contents, but almost did not affect the number of normal and opportunistic pathogenic enterobacteria. The compensation of deficiency during 5 days lead to the increased number of lactobacilli, but the physiological levels and levels in control animals it reached only in rats received 220% of the vitamins with the addition of wheat bran. In the lactobacilli population in all rats received different doses of vitamins (including reduced to 20%), regardless of the presence of wheat bran, prevailing culturable representatives were 3 kinds of Lactobacillus spp. ­ acidophilus, fermentum, paracasei. These species showed stable presence in the intestine even in conditions of prolonged vitamin deficiency (35 days). L. acidophilus was the dominated lactoflora representative in all rats, its' content was average 91.7% of all culturable lactobacilli. With less constancy and in lower amounts were detected L. plantarum and representatives of coccal flora (Leuconostoc lactis, Lactococcus lactis).
[Mh] MeSH terms primary: Colon/microbiology
Dietary Fiber/pharmacology
Gastrointestinal Microbiome
Lactobacillus/metabolism
Vitamins/pharmacology
[Mh] MeSH terms secundary: Animals
Male
Rats
Rats, Wistar
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Dietary Fiber); 0 (Vitamins)
[Em] Entry month:1802
[Cu] Class update date: 180216
[Lr] Last revision date:180216
[Js] Journal subset:IM
[Da] Date of entry for processing:180130
[St] Status:MEDLINE

  6 / 1773 MEDLINE  
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[PMID]: 29376311
[Au] Autor:Gmoshinsky IV; Vrzhesinskaya OA; Shumakova AA; Shipelin VA; Kodentsova VM; Khotimchenko SA
[Ti] Title:Influence of nanosized amorphous silica on assimilation of vitamins B1, B2 and B6 in rats.
[So] Source:Vopr Pitan;85(6):72-9, 2016.
[Is] ISSN:0042-8833
[Cp] Country of publication:Russia (Federation)
[La] Language:rus
[Ab] Abstract:Amorphous silica (SiO2) in the form of nanoparticles (NPs) is widely used as a food additive E551 in many enriched foods and food supplements. The aim of this study was to evaluate the effect of oral administration of SiO2 NPs on assimilation and metabolism of vitamins B1, B2 and B6 in laboratory rats. Amorphous SiO2 «Orisil-300 ®¼ was used with the size of the primary NPs 20-60 nm according to the electronic, atomic force microscopy and dynamic light scattering. The experiment was conducted on 8 groups of growing male Wistar rats (with initial body weight 70-80g) number, respectively, 7, 7, 10, 10, 12, 12, 14 and 16 animals. Animals of the 1st, 3rd, 4th and 5th groups received through­out the experiment balanced semi-synthetic diet. Animals of the 2nd group received a diet depleted of vitamins B1, B2 and B6 until day 21; animals of the 6th, 7th and 8th groups -the same diet from the 1st to the 21th day, and then, before the closure of the experiment, the diet provided with the indicated B vitamins at 100% of normal level. From day 22 of experiment and until the end at day 29 the animals of the 3rd and 6th groups received deionized water (placebo) through intragastric gavage; rat of the 4th and 7th groups -aqueous suspension of SiO2 dose of 1 mg/kg body weight /day, and the 5th and 8th group -100 mg/kg/day. Urinary excretion of thiamine, riboflavin, 4-pyridoxilic acid and liver and brain content of vitamins B1 and B2 (after acid and enzyme hydrolysis) were deter­mined by fluorimetric methods. It was found that rats in group 2 lagged in weight gain at day 21 significantly compared to group 1, and developed a marked deficiency of vitamins B1, B2 and B6 according to studied safety parameters. In groups from 6 to 8 at day 29 par­tial recovery was achieved in vitamin status. Administration of SiO2 to animal of groups 4 and 5, with normal consumption of B vitamins, had no significant effect on any param­eters of vitamin status in comparison to group 3. However, intragastric administration of SiO2 led in animals of groups 7 and 8 to an increase in the urinary excretion of vitamins B1 and B2 and lowering of their content in liver as compared to group 6. Administration of SiO2 had no effect on indices of vitamin B6 sufficiency. Possible reasons are discussed for the adverse lowering impact of SiO2 NPs on the availability of vitamins B1 and B2 and their increased clearance from the body.
[Mh] MeSH terms primary: Drug Carriers
Nanoparticles
Riboflavin
Silicon Dioxide
Thiamine
Vitamin B 6
[Mh] MeSH terms secundary: Animals
Drug Carriers/chemistry
Drug Carriers/pharmacokinetics
Drug Carriers/pharmacology
Male
Nanoparticles/chemistry
Nanoparticles/therapeutic use
Rats
Rats, Wistar
Riboflavin/chemistry
Riboflavin/pharmacokinetics
Riboflavin/pharmacology
Silicon Dioxide/chemistry
Silicon Dioxide/pharmacokinetics
Silicon Dioxide/pharmacology
Thiamine/chemistry
Thiamine/pharmacokinetics
Thiamine/pharmacology
Vitamin B 6/chemistry
Vitamin B 6/pharmacokinetics
Vitamin B 6/pharmacology
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Drug Carriers); 7631-86-9 (Silicon Dioxide); 8059-24-3 (Vitamin B 6); TLM2976OFR (Riboflavin); X66NSO3N35 (Thiamine)
[Em] Entry month:1802
[Cu] Class update date: 180216
[Lr] Last revision date:180216
[Js] Journal subset:IM
[Da] Date of entry for processing:180130
[St] Status:MEDLINE

  7 / 1773 MEDLINE  
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[PMID]: 29363932
[Au] Autor:Beketova NA; Kodentsova VM; Vrzhesinskaya OA; Kosheleva OV; Pereverzeva OG; Solntseva TN; Pogozheva AV; Khanferyan RA; Berketova LV; Lipatova LP
[Ti] Title:[Estimation of vitamin status of moscow student according to data on vitamins intake and their levels in blood].
[So] Source:Vopr Pitan;84(5):64-75, 2015.
[Is] ISSN:0042-8833
[Cp] Country of publication:Russia (Federation)
[La] Language:rus
[Ab] Abstract:Supply with vitamins C, A, E and B2 of 61 high school students (38 girls and 23 boys, aged 18­22 years, body mass index ­ 23.0±0.6 kg/m2) by means of determination of blood plasma concentration of ascorbic acid, retinol and carotenoids, tocopherols and riboflavin has been investigated in the period from May to September. All students were well supplied with vitamin C (only 2 boys had a reduced level of ascorbic acid) and vitamin A. Decreased level of carotenoids was more common in boys (48 versus 24% in girls). 20% of the students were insufficiently supplied with vitamin E, 38% ­ with vitamin B2. 39% of students (50% girls and 22% boys) were adequately provided with all studied vitamins. 5% of the students had a combined deficiency of 3 vitamins, 20% ­ 2 vitamins. Student's sufficiency with vitamins B2, C, A, E, carotenoids did not depend on the season. Diet intake of vitamins C, A, carotenoids and vitamin B2 has been calculated basing on the data on the frequency of food consumption during the previous month. Reduced consumption relatively to the Russia RDA of vitamins В2, C and А took place in 63, 54 and 46% of the students respectively. The lack of vitamin B2 in the diet was most pronounced, the value of probabilistic risk corresponded to the average level in 34% of students. Average probabilistic risk of inadequate intake of vitamin A was present in 17% of students, vitamin C ­ 6%. Coincidence of the results of vitamin C and A status assessment obtained by calculation of vitamin diet intake and by biochemical methods (concentration of vitamins in the blood plasma) was 94 and 83%. These methods are interchangeable if you select the value of the average probability of risk failure intake of these vitamins as a criterion. Proportion of coinciding results of the estimation of vitamin B2 status was 56%. Special well-designed studies on larger sample surveyed are needed for the final output of the interchangeability of methods to assess riboflavin status.
[Mh] MeSH terms primary: Dietary Supplements
[Mh] MeSH terms secundary: Adolescent
Adult
Ascorbic Acid/administration & dosage
Ascorbic Acid/pharmacokinetics
Female
Humans
Male
Students
Vitamin A/administration & dosage
Vitamin A/pharmacokinetics
Vitamins/administration & dosage
Vitamins/pharmacokinetics
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Vitamins); 11103-57-4 (Vitamin A); PQ6CK8PD0R (Ascorbic Acid)
[Em] Entry month:1802
[Cu] Class update date: 180205
[Lr] Last revision date:180205
[Js] Journal subset:IM
[Da] Date of entry for processing:180125
[St] Status:MEDLINE

  8 / 1773 MEDLINE  
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[PMID]: 29244925
[Au] Autor:Zadnipryanyy IV; Tretiakova OS; Sataieva TP
[Ti] Title:Cardio and cytoprotective effect of cytoflavin in terms of experimental perinatal hemic hypoxia.
[So] Source:Patol Fiziol Eksp Ter;60(4):64-71, 2016 Oct-Dec.
[Is] ISSN:0031-2991
[Cp] Country of publication:Russia (Federation)
[La] Language:eng
[Ab] Abstract:The purpose: The purpose of research is to study cardiocytoprotective effect of cytoflavin in terms of aperinatal hypoxia in experiment. Methods: During research the offspring (22 pups) of 15 females of white Wistar line rats aged 3-4 months were involved. The hypoxia was recreated by daily intraperitoneal introduction of sodium nitrite (NaNO2) in a dose of 5 mg/100 g of the body weight causing a moderately severe hypoxia. To females of the first group, and also their posterity medicamental correction wasn't carried out. To females of the second group (8 females) after administration of sodium nitrite Cytoflavin was injected intraperitoneally. For an assessment of consequences of a perinatal hypoxia pups aged 7 days were slaughtered by means of a fast decapitation under ethereal anesthesia. Results: It is taped that the hypoxia induced by nitrobonds has the expressed damaging effect on cardiomyocytes of newborn infant rats which is shown in the form of the hypoxemic and ischemic changes caused, first of all, by disturbance of integrity of cellular and mitochondrial membranes causes formation of hypoxemic type of a metabolism in a cardiac muscle, disturbance of energy balance in it found reflection in disturbance of automatism of a myocardium of experimental animals. Cytoflavin at pregnant females in experiment allows to lower a damage rate of cardiomyocytes at newborn animals, first of all, at the expense of his protective properties. Conclusion: Membrane-protective properties of the drug along with its anti-hypoxic and antioxidant effects can put Cytoflavin in a number of promising drugs with cardiological and cytological protective action, leading to the optimization of energy metabolism in ischemic myocardium and allows it to take its rightful place among the modern drugs which are used to correct disorders of energy metabolism in the ischemic myocardium including pathologies in the neonatal period.
[Mh] MeSH terms primary: Cardiotonic Agents/pharmacology
Flavin Mononucleotide/pharmacology
Hypoxia
Inosine Diphosphate/pharmacology
Myocardium
Myocytes, Cardiac
Niacinamide/pharmacology
Succinates/pharmacology
[Mh] MeSH terms secundary: Animals
Drug Combinations
Female
Hypoxia/chemically induced
Hypoxia/drug therapy
Hypoxia/metabolism
Hypoxia/pathology
Male
Myocardium/metabolism
Myocardium/pathology
Myocytes, Cardiac/metabolism
Myocytes, Cardiac/pathology
Rats
Rats, Wistar
Sodium Nitrite/adverse effects
Sodium Nitrite/pharmacology
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Cardiotonic Agents); 0 (Drug Combinations); 0 (Succinates); 0 (cytoflavin); 25X51I8RD4 (Niacinamide); 7N464URE7E (Flavin Mononucleotide); 86-04-4 (Inosine Diphosphate); M0KG633D4F (Sodium Nitrite)
[Em] Entry month:1801
[Cu] Class update date: 180118
[Lr] Last revision date:180118
[Js] Journal subset:IM
[Da] Date of entry for processing:171216
[St] Status:MEDLINE

  9 / 1773 MEDLINE  
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[PMID]: 29193829
[Au] Autor:Nimmo GAM; Ejaz R; Cordeiro D; Kannu P; Mercimek-Andrews S
[Ad] Address:Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
[Ti] Title:Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency.
[So] Source:Am J Med Genet A;176(2):399-403, 2018 Feb.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Biallelic likely pathogenic variants in SLC52A2 and SLC52A3 cause riboflavin transporter deficiency. It is characterized by muscle weakness, ataxia, progressive ponto-bulbar palsy, amyotrophy, and sensorineural hearing loss. Oral riboflavin halts disease progression and may reverse symptoms. We report two new patients whose clinical and biochemical features were mimicking mitochondrial myopathy. Patient 1 is an 8-year-old male with global developmental delay, axial and appendicular hypotonia, ataxia, and sensorineural hearing loss. His muscle biopsy showed complex II deficiency and ragged red fibers consistent with mitochondrial myopathy. Whole exome sequencing revealed a homozygous likely pathogenic variant in SLC52A2 (c.917G>A; p.Gly306Glu). Patient 2 is a 14-month-old boy with global developmental delay, respiratory insufficiency requiring ventilator support within the first year of life. His muscle biopsy revealed combined complex II + III deficiency and ragged red fibers consistent with mitochondrial myopathy. Whole exome sequencing identified a homozygous likely pathogenic variant in SCL52A3 (c.1223G>A; p.Gly408Asp). We report two new patients with riboflavin transporter deficiency, caused by mutations in two different riboflavin transporter genes. Both patients presented with complex II deficiency. This treatable neurometabolic disorder can mimic mitochondrial myopathy. In patients with complex II deficiency, riboflavin transporter deficiency should be included in the differential diagnosis to allow early treatment and improve neurodevelopmental outcome.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180115
[Lr] Last revision date:180115
[St] Status:In-Data-Review
[do] DOI:10.1002/ajmg.a.38530

  10 / 1773 MEDLINE  
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[PMID]: 29316637
[Au] Autor:Leone P; Galluccio M; Barbiroli A; Eberini I; Tolomeo M; Vrenna F; Gianazza E; Iametti S; Bonomi F; Indiveri C; Barile M
[Ad] Address:Department of Bioscience, Biotechnology and Biopharmaceutics, University of Bari, via Orabona, 4, I-70126 Bari, Italy. pieroleone87@gmail.com.
[Ti] Title:Bacterial Production, Characterization and Protein Modeling of a Novel Monofuctional Isoform of FAD Synthase in Humans: An Emergency Protein?
[So] Source:Molecules;23(1), 2018 Jan 06.
[Is] ISSN:1420-3049
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract:FAD synthase (FADS, EC 2.7.7.2) is the last essential enzyme involved in the pathway of biosynthesis of Flavin cofactors starting from Riboflavin (Rf). Alternative splicing of the human FLAD1 gene generates different isoforms of the enzyme FAD synthase. Besides the well characterized isoform 1 and 2, other FADS isoforms with different catalytic domains have been detected, which are splice variants. We report the characterization of one of these novel isoforms, a 320 amino acid protein, consisting of the sole C-terminal 3'-phosphoadenosine 5'-phosphosulfate (PAPS) reductase domain (named FADS6). This isoform has been previously detected in Riboflavin-Responsive (RR-MADD) and Non-responsive Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) patients with frameshift mutations of FLAD1 gene. To functionally characterize the hFADS6, it has been over-expressed in and purified with a yield of 25 mg·L of cell culture. The protein has a monomeric form, it binds FAD and is able to catalyze FAD synthesis (k about 2.8 min ), as well as FAD pyrophosphorolysis in a strictly Mg -dependent manner. The synthesis of FAD is inhibited by HgCl2. The enzyme lacks the ability to hydrolyze FAD. It behaves similarly to PAPS. Combining threading and ab-initio strategy a 3D structural model for such isoform has been built. The relevance to human physio-pathology of this FADS isoform is discussed.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180110
[Lr] Last revision date:180110
[St] Status:In-Process


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