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Molecular Genetics and Metabolism Jun 2024Glutaric aciduria type II (GAII) is a heterogeneous genetic disorder affecting mitochondrial fatty acid, amino acid and choline oxidation. Clinical manifestations vary...
Glutaric aciduria type II (GAII) is a heterogeneous genetic disorder affecting mitochondrial fatty acid, amino acid and choline oxidation. Clinical manifestations vary across the lifespan and onset may occur at any time from the early neonatal period to advanced adulthood. Historically, some patients, in particular those with late onset disease, have experienced significant benefit from riboflavin supplementation. GAII has been considered an autosomal recessive condition caused by pathogenic variants in the gene encoding electron-transfer flavoprotein ubiquinone-oxidoreductase (ETFDH) or in the genes encoding electron-transfer flavoprotein subunits A and B (ETFA and ETFB respectively). Variants in genes involved in riboflavin metabolism have also been reported. However, in some patients, molecular analysis has failed to reveal diagnostic molecular results. In this study, we report the outcome of molecular analysis in 28 Australian patients across the lifespan, 10 paediatric and 18 adult, who had a diagnosis of glutaric aciduria type II based on both clinical and biochemical parameters. Whole genome sequencing was performed on 26 of the patients and two neonatal onset patients had targeted sequencing of candidate genes. The two patients who had targeted sequencing had biallelic pathogenic variants (in ETFA and ETFDH). None of the 26 patients whose whole genome was sequenced had biallelic variants in any of the primary candidate genes. Interestingly, nine of these patients (34.6%) had a monoallelic pathogenic or likely pathogenic variant in a single primary candidate gene and one patient (3.9%) had a monoallelic pathogenic or likely pathogenic variant in two separate genes within the same pathway. The frequencies of the damaging variants within ETFDH and FAD transporter gene SLC25A32 were significantly higher than expected when compared to the corresponding allele frequencies in the general population. The remaining 16 patients (61.5%) had no pathogenic or likely pathogenic variants in the candidate genes. Ten (56%) of the 18 adult patients were taking the selective serotonin reuptake inhibitor antidepressant sertraline, which has been shown to produce a GAII phenotype, and another two adults (11%) were taking a serotonin-norepinephrine reuptake inhibitor antidepressant, venlafaxine or duloxetine, which have a mechanism of action overlapping that of sertraline. Riboflavin deficiency can also mimic both the clinical and biochemical phenotype of GAII. Several patients on these antidepressants showed an initial response to riboflavin but then that response waned. These results suggest that the GAII phenotype can result from a complex interaction between monoallelic variants and the cellular environment. Whole genome or targeted gene panel analysis may not provide a clear molecular diagnosis.
PubMed: 38941880
DOI: 10.1016/j.ymgme.2024.108516 -
Food Chemistry Jun 2024This study aimed to evaluate the effect of extrusion and of open-pan cooking on whole germinated and non-germinated grains of pearl millet (Pennisetum glaucum L. R....
This study aimed to evaluate the effect of extrusion and of open-pan cooking on whole germinated and non-germinated grains of pearl millet (Pennisetum glaucum L. R. Br.), on its chemical-nutritional composition and in vitro iron bioavailability. The experimental design consisted of three flours: non-germination open-pan cooked millet flour (NGOPCMF), germination open-pan cooked millet flour (GOPCMF), and extrusion cooked millet flour (ECMF). The ECMF increased the carbohydrates, iron, manganese, diosmin, and cyanidin and decreased the total dietary fiber, resistant starch, lipids, and total vitamin E, in relation to NGOPCMF. The GOPCMF increased the lysine and vitamin C and decreased the phytate, lipids, total phenolic, total vitamin E, and riboflavin concentration, in relation to NGOPCMF. Furthermore, germinated cooked millet flour and extruded millet flour improved iron availability in vitro compared to non-germinated cooked millet flour. GOPCMF and ECMF generally preserved the chemical-nutritional composition of pearl millet and improved in vitro iron bioavailability; therefore, they are nutritionally equivalent and can be used to develop pearl millet-based products.
PubMed: 38936130
DOI: 10.1016/j.foodchem.2024.140170 -
Heliyon Jun 2024Fish is an excellent source of low-fat protein. Fish contains a lot of omega-3 fatty acids, as well as vitamins D and B (riboflavin). The daily consumption of...
Fish is an excellent source of low-fat protein. Fish contains a lot of omega-3 fatty acids, as well as vitamins D and B (riboflavin). The daily consumption of contaminated food, especially fish, is among the primary cause of heavy metals pollution to human health. The aim of the research was to determine the concentration of heavy metals in selected species of fish from the Gulf of Guinea at James Town in Ghana. In tandem with the study's objective, samples of different forms of fish, Cassava fish, Flatfish, Redfish, Kingfish, and Silverfish, and sediment were obtained and analyzed for the presence of heavy metals using atomic absorption spectrometer (PerkinElmer®, PinAAcle 900T). The analysis indicated a high concentration of Pb, Cd, and Cr concentrations in fish gills, muscles, and sediment. High lead concentration in Silverfish gills (5.9 mg/kg) and Flatfish gills (2.29 mg/kg) above WHO levels. Cadmium was found in all fish species and sediment except Kingfish. Chromium concentrations were high n Cassava fish (3.10 mg/kg) and Silverfish (4.01 mg/kg) and copper concentrations were absent in the fish species. Arsenic and mercury were also not detected in all fish species and sediment. Manganese concentrations were found in fish and sediment. High cadmium target hazard quotient (0.17-11.60 for adults and 0.24 to 16.24 for children) and cancer risk (0.00-0.04) values in fish samples indicated potential health concerns. The Hazard Index (HI) for the analyzed samples ranged from 0.00 to 12.48 for adults and 0.00 to 17.47 for children. The study suggests that eliminating pollution and other sources of waterbody pollution is crucial to protecting the marine environment and the health of seafood consumers.
PubMed: 38933973
DOI: 10.1016/j.heliyon.2024.e32387 -
Nutrients Jun 2024Depression is a major global health concern expected to worsen by 2030. In 2019, 28 million individuals were affected by depressive disorders. Dietary and supplemental... (Review)
Review
Depression is a major global health concern expected to worsen by 2030. In 2019, 28 million individuals were affected by depressive disorders. Dietary and supplemental vitamins show overall favorable preventative and therapeutic effects on depression. B vitamins are crucial for neurological function and mood regulation. Deficiencies in these vitamins are linked to depression. Studies on individual B vitamins show promise in improving depressive symptoms, particularly thiamin, riboflavin, niacin, and folate. Vitamin C deficiency may heighten depressive symptoms, but its exact role is not fully understood. Seasonal Affective Disorder (SAD) is associated with insufficient sunlight exposure and vitamin D deficiency. Vitamin D supplementation for SAD shows inconsistent results due to methodological variations. Further investigation is needed to understand the mechanisms of vitamins in depression treatment. Moreover, more research on SAD and light therapy's efficacy and underlying mechanisms involving photoreceptors, enzymes, and immune markers is needed. Although dietary and supplemental vitamins show overall favorable preventative and therapeutic effects on depression, dietitians treating psychiatric disorders face challenges due to diverse study designs, making direct comparisons difficult. Therefore, this article reviews the current literature to assess the role of dietary and supplemental vitamins in the prevention and treatment of depression. This review found that, although evidence supports the role of B vitamins and vitamins C and D in preventing and treating depression, further research is needed to clarify their mechanisms of action and determine the most effective intervention strategies.
Topics: Humans; Seasonal Affective Disorder; Vitamin D; Dietary Supplements; Vitamins; Depression; Adult; Ascorbic Acid; Vitamin B Complex; Vitamin D Deficiency; Female; Solubility
PubMed: 38931257
DOI: 10.3390/nu16121902 -
Nutrients Jun 2024Type 2 diabetes (T2D) is a global and complex public health challenge, and dietary management is acknowledged as critical in its prevention. Recent studies have...
BACKGROUND AND AIMS
Type 2 diabetes (T2D) is a global and complex public health challenge, and dietary management is acknowledged as critical in its prevention. Recent studies have highlighted the involvement of micronutrients in T2D pathophysiology; our study aims to assess the association between B vitamin intake and T2D risks and the mediating role of inflammation.
METHODS
In a prospective cohort design, data on B vitamins intake, including thiamine (B1), riboflavin (B2), niacin (B3), pyridoxine (B6), folate (B9), and cobalamin (B12), was obtained using a validated food frequency questionnaire (FFQ), and blood inflammatory biomarkers were analyzed according to standard protocol in the local hospitals at baseline from 44,960 adults in the Shanghai Suburban Adult Cohort and Biobank (SSACB). Incident T2D cases were identified according to a physician's diagnosis or medication records from the electronic medical information system. We employed logistic and weighted quantile sum regression models to explore the associations of single and combined levels of B vitamins with T2D and mediation analyses to investigate the effects of inflammation.
RESULTS
Negative correlations between B vitamins and T2D were observed in the single-exposure models, except for B3. The analyses of joint exposure (B1, B2, B6, B9, and B12) also showed an inverse association (OR 0.80, 95% CI 0.71 to 0.88), with vitamin B6 accounting for 45.58% of the effects. Further mediation analysis indicated a mediating inflammatory impact, accounting for 6.72% of the relationship.
CONCLUSIONS
Dietary intake of B vitamins (B1, B2, B6, B9, B12) was associated with a reduced T2D risk partially mediated by inflammation in Shanghai residents.
Topics: Humans; Diabetes Mellitus, Type 2; China; Female; Middle Aged; Male; Inflammation; Prospective Studies; Vitamin B Complex; Adult; Risk Factors; Biomarkers; Aged; Diet; Cohort Studies
PubMed: 38931256
DOI: 10.3390/nu16121901 -
Nutrients Jun 2024Diets omitting whole food groups pose a risk for micronutrient insufficiencies, but there are no data as to whether those are suitably attenuated with dietary...
Diets omitting whole food groups pose a risk for micronutrient insufficiencies, but there are no data as to whether those are suitably attenuated with dietary supplements (DS). Micronutrient intakes with food and DSs were analyzed in 130 healthy adults: 32 vegans, 37 vegetarians, 24 following low-carbohydrate high-fat diet (LCHF), and 37 omnivores. A total of 63% used DS (84% of vegans, 75% of LCHF, 54% of vegetarians, and 46% of omnivores); however, a DS did not always tackle dietary insufficiencies. Vitamin B was often supplemented in vegans in doses substantially higher than recommended, but it was supplemented less often in vegetarians, despite the low prevalence of sufficient intake. Only 43% of participants supplemented vitamin D in wintertime, 23% of them with an insufficient dose. Supplementation of potassium, calcium, and iodine was rare, despite low intake adequacy with food alone in all groups. Some micronutrients were supplemented unnecessarily, such as vitamin K, riboflavin, biotin, and iron. Multimicronutrient DSs were used often; they increased intake adequacy of group B vitamins but failed to sufficiently supplement vitamin D, potassium, calcium, and iodine. Although DS use increased micronutrient intake sufficiency when used properly, the knowledge on micronutrient inadequacy in all dietary patterns should be increased and the public should be educated on the proper use of DSs. Multimicronutrient DSs should be reformulated to tackle the insufficiencies.
Topics: Humans; Adult; Dietary Supplements; Female; Male; Micronutrients; Middle Aged; Vegans; Diet, High-Fat; Diet, Vegan; Diet, Carbohydrate-Restricted; Vegetarians; Young Adult; Diet, Vegetarian; Nutritional Status
PubMed: 38931187
DOI: 10.3390/nu16121832 -
Life (Basel, Switzerland) May 2024Ocular surface staining for assessing corneal and conjunctival epithelium integrity is typically conducted using fluorescein, lissamine green, or rose Bengal dyes....
Ocular surface staining for assessing corneal and conjunctival epithelium integrity is typically conducted using fluorescein, lissamine green, or rose Bengal dyes. Recently, a novel vital dye, REmark, based on riboflavin, has been proposed for ocular surface examination. In the management of corneal and ocular surface diseases (OSD), the use of contact lenses is integral to therapeutic strategies. This study explores the compatibility of REmark with four different types of disposable or bi-weekly soft contact lenses. Morphological variations observed under stereomicroscopy and ultraviolet (UV) ray transmittance in the visible spectrum (VIS) were evaluated at 2 and 4 h post-immersion of the contact lenses in both the original fluid and the new dye. The findings indicate no significant differences between the group treated with the original liquid and those immersed in REmark, except for a yellow hue observed in the latter group, which dissipates after 8 h in physiological solution. This study highlights the potential of utilizing the new vital dye for ophthalmologic examinations even in the presence of applied soft contact lenses, offering a promising avenue for improved diagnostic practices and patient comfort.
PubMed: 38929636
DOI: 10.3390/life14060653 -
Zhongguo Dang Dai Er Ke Za Zhi =... Jun 2024To study the characteristics and clinical value of intestinal metabolites in children aged 4-6 years with obstructive sleep apnea-hypopnea syndrome (OSAHS).
OBJECTIVES
To study the characteristics and clinical value of intestinal metabolites in children aged 4-6 years with obstructive sleep apnea-hypopnea syndrome (OSAHS).
METHODS
A total of 31 children aged 4-6 years with OSAHS were prospectively enrolled as the test group, and 24 healthy children aged 4-6 years were included as the control group. Relevant clinical indicators were recorded. Fecal samples were collected, and non-targeted metabolomics analysis using liquid chromatography-mass spectrometry was performed to detect all metabolites.
RESULTS
A total of 206 metabolites were detected, mainly amino acids and their derivatives. There was a significant difference in the overall composition of intestinal metabolites between the test and control groups (<0.05). Eighteen different metabolites were selected, among which six (N-acetylmethionine, L-methionine, L-lysine, DL-phenylalanine, L-tyrosine, and L-isoleucine) had receiver operating characteristic curve areas greater than 0.7 for diagnosing OSAHS. Among them, N-acetylmethionine had the largest area under the curve, which was 0.807, with a sensitivity of 70.83% and a specificity of 80.65%. Correlation analysis between different metabolites and clinical indicators showed that there were positive correlations between the degree of tonsil enlargement and enterolactone, between uric acid and phenylacetaldehyde, between blood glucose and acetylmethionine, and between cholesterol and 9-bromodiphenyl and procaine (<0.05). There were negative correlations between the degree of tonsil enlargement and N-methyltyramine, aspartate aminotransferase and indolepropionic acid and L-isoleucine, between alanine aminotransferase and DL-phenylalanine, between indolepropionic acid and L-isoleucine, between uric acid and hydroxyquinoline, and between urea nitrogen and N,N-dicyclohexylurea (<0.05). The metabolic functional pathways affected by differential metabolites mainly included riboflavin metabolism, arginine and proline metabolism, pantothenic acid and coenzyme A biosynthesis, cysteine and methionine metabolism, lysine degradation and glutathione metabolism.
CONCLUSIONS
Intestinal metabolites and metabolic functions are altered in children aged 4-6 years with OSAHS, primarily involving amino acid metabolism disorders. The screened differential intestinal metabolites have potential screening and diagnostic value as biomarkers for OSAHS.
Topics: Humans; Child; Male; Child, Preschool; Female; Sleep Apnea, Obstructive; Intestines; Methionine
PubMed: 38926373
DOI: 10.7499/j.issn.1008-8830.2309129 -
International Journal of Antimicrobial... Jun 2024Isobavachalcone (IBC) is a natural small-molecule with various biological activities; however, its inhibitory effects on Cryptococcus neoformans remain unclear. In our...
Isobavachalcone (IBC) is a natural small-molecule with various biological activities; however, its inhibitory effects on Cryptococcus neoformans remain unclear. In our study, IBC showed a good antifungal effect. Through in vitro experiments, its minimum inhibitory concentration (MIC) was 0.5-1 μg/mL. It exhibited the same antifungal effect as Amphotericin B in brain and lung infections in in vivo experiments. IBC also showed a synergistic antifungal effect with emodin with lower toxicity, and C. neoformans did not develop drug resistance to IBC. In the mechanistic study, significantly damaged mitochondria of C. neoformans, a significant reduction in mitochondrial membrane potential and adenosine triphosphate (ATP) production, and an increase in hydrogen peroxide [HO] caused by IBC were observed using transmission electron microscopy. Through drug affinity-responsive target stability combined with phenotype detection, riboflavin synthases of aconitase and succinate dehydrogenase were screened. Molecular docking, quantitative polymerase chain reaction experiments, target inhibitor and agonist intervention, molecular interaction measurements, and MIC detection of the constructed expression strains revealed that IBC targeted the activity of these two enzymes, interfered by the tricarboxylic acid cycle, inhibited the production of ATP, blocked electron transport, reduced mitochondrial membrane potential, and induced antioxidation imbalance and reactive oxygen species accumulation, thus producing an antifungal effect. Therefore, IBC is a promising lead drug and redox antifungal agent for C. neoformans.
PubMed: 38925229
DOI: 10.1016/j.ijantimicag.2024.107253 -
Membranes Jun 2024Thin-film composite (TFC) membranes containing a metal-polyphenol network (MPN)-based selective layer were fabricated on a porous polyacrylonitrile support. The MPN...
Thin-film composite (TFC) membranes containing a metal-polyphenol network (MPN)-based selective layer were fabricated on a porous polyacrylonitrile support. The MPN layer was formed through coordination-based self-assembly between plant-based tannic acid (TA) and an Fe ion. For the first time, we demonstrate that TFC membranes containing TA-Fe selective layers can separate small organic solutes in aqueous media from equimolar mixtures of solutes. The effect of the assembly time on the characteristics and performance of the fabricated selective layer was investigated. An increase in the assembly time led to the formation of selective layers with smaller effective pore sizes. The tannic acid-Fe selective layer exhibited a low rejection towards neutral solutes riboflavin and poly(ethylene glycol) while high rejections were observed for anionic dyes of orange II and naphthol green B. Permeation selectivities in the range of 2-27 were achieved between neutral and charged dyes in both single- and mixed-solute experiments, indicating the significant role of Donnan exclusion and the charge-selective nature of the membranes. The rejection efficiency improved with an increasing assembly time. Overall, this study demonstrates that the assembly time is a vital casting parameter for controlling the permeance, rejection and selectivity of thin-film composite membranes with a tannic acid-Fe selective layer.
PubMed: 38921500
DOI: 10.3390/membranes14060133