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1.
Macromol Rapid Commun ; 45(16): e2400170, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38936823

ABSTRACT

A challenge remains in the development of anti-infectious coatings for the inert surfaces of biomedical devices that are prone to bacterial colonization and biofilm formation. Here, a facile photocuring method to construct functionalized polymeric coatings on inert polydimethylsiloxane (PDMS) surfaces, is developed. Using atom transfer radical polymerization (ATRP) initiator bearing thymol group, hydrophilic DMAEMA and benzophenone (BP)-containing monomers are copolymerized to form polymers with end functional groups. An end-functionalized biocidal coating is then constructed on the inert PDMS surface in one step using a photocuring reaction. The functionalized PDMS surfaces show excellent antibacterial and antifouling properties, are capable of completely eradiating MRSA within ≈6 h, and effectively inhibit the growth of biofilms. In addition, they have good stability and long-lasting antibacterial activity in body fluid environments such as 0.9% saline and urine. According to bladder model experiments, the catheter's lifespan can be extended from ≈7 to 35 days by inhibiting the growth and migration of bacteria along its inner surface. The photocuring technique is therefore very promising in terms of surface functionalization of inert biomedical devices in order to minimize the spread of infection.


Subject(s)
Anti-Bacterial Agents , Biofilms , Dimethylpolysiloxanes , Surface Properties , Anti-Bacterial Agents/pharmacology , Anti-Bacterial Agents/chemistry , Anti-Bacterial Agents/chemical synthesis , Dimethylpolysiloxanes/chemistry , Biofilms/drug effects , Microbial Sensitivity Tests , Methicillin-Resistant Staphylococcus aureus/drug effects , Methicillin-Resistant Staphylococcus aureus/physiology , Polymers/chemistry , Polymers/pharmacology , Photochemical Processes , Benzophenones/chemistry , Benzophenones/pharmacology , Polymerization , Molecular Structure
2.
Food Chem ; 444: 138655, 2024 Jun 30.
Article in English | MEDLINE | ID: mdl-38330612

ABSTRACT

In this study, we addressed the limited water solubility of curcumin by utilizing epigallocatechin-3-gallate to form nanoparticles through self-assembly. The resulting particles, ranging from 100 to 150 nm, exhibited a redshift in the UV-visible spectrum, from 425 nm to 435 nm, indicative of potential π-π stacking. Molecular docking experiments supported this finding. Curcumin loaded with epigallocatechin-3-gallate showed exceptional dispersibility in aqueous solutions, with 90.92 % remaining after 60 days. The electrostatic screening effect arises from the charge carried by epigallocatechin-3-gallate on the nanoparticles, leading to enhanced retention of curcumin under different pH, temperature, and ionic strength conditions. Furthermore, epigallocatechin-3-gallate can interact with other hydrophobic polyphenols, improving their dispersibility and stability in aqueous systems. Applying this principle, a palatable beverage was formulated by combining turmeric extract and green tea. The nanoparticles encapsulated with epigallocatechin-3-gallate show potential for improving the applicability of curcumin in aqueous food systems.


Subject(s)
Catechin , Catechin/analogs & derivatives , Curcumin , Nanoparticles , Curcumin/chemistry , Molecular Docking Simulation , Beverages , Catechin/chemistry , Nanoparticles/chemistry , Water
3.
Int J Biol Macromol ; 277(Pt 2): 133591, 2024 Jul 01.
Article in English | MEDLINE | ID: mdl-38960233

ABSTRACT

Pectic polysaccharides are considered the highly complex natural plant polysaccharides which plays a vital role in plant tissue structure and human health. Detailed characterization of the monosaccharide composition can provide insights into the pectic polysaccharide structure. Nevertheless, when analyzing the monosaccharides of pectic polysaccharide, it is crucial to address the issue of incomplete hydrolysis that can occur due to the formation of acid-induced precipitates. Based on above, the main purpose of this article is to provide an optimized method for monosaccharide analysis of pectic polysaccharides through acid hydrolysis optimization using high-performance anion exchange chromatography (HPAEC) The results indicate that reducing the sample concentration to 0.5 mg/mL effectively reduces the acid gelling phenomenon and promotes the complete hydrolysis of pectin polysaccharides. The optimized parameters for acid hydrolysis involve 110 °C for 6 h in 2 M TFA. Furthermore, the consistency of this method is assessed, along with its ability to analyze pectin polysaccharides from various fruits. This hydrolysis approach holds promise for enabling accurate quantification of monosaccharide composition in pectic polysaccharides.

4.
BMC Med Genomics ; 17(1): 4, 2024 01 02.
Article in English | MEDLINE | ID: mdl-38167320

ABSTRACT

BACKGROUND: Hereditary hearing loss is a highly heterogeneous disorder. This study aimed to identify the genetic cause of a Chinese family with autosomal recessive non-syndromic sensorineural hearing loss (ARNSHL). METHODS: Clinical information and peripheral blood samples were collected from the proband and its parents. Two-step high-throughput next-generation sequencing on the Ion Torrent platform was applied to detect variants as follows. First, long-range PCR was performed to amplify all the regions of the GJB2, GJB3, SLC26A4, and MT-RNR1 genes, followed by next-generation sequencing. If no candidate pathogenetic variants were found, the targeted exon sequencing with AmpliSeq technology was employed to examine another 64 deafness-associated genes. Sanger sequencing was used to identify variants and the lineage co-segregation. The splicing of the MYO15A gene was assessed by in silico bioinformatics prediction and minigene assays. RESULTS: Two candidate MYO15A gene (OMIM, #602,666) heterozygous splicing variants, NG_011634.2 (NM_016239.3): c.6177 + 1G > T and c.9690 + 1G > A, were identified in the proband, and these two variants were both annotated as pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guidelines. Further bioinformatic analysis predicted that the c.6177 + 1G > T variant might cause exon skipping and that the c.9690 + 1G > A variant might activate a cryptic splicing donor site in the downstream intronic region. An in vitro minigene assay confirmed the above predictions. CONCLUSIONS: We identified a compound heterozygous splicing variant in the MYO15A gene in a Han Chinese family with ARNSHL. Our results broaden the spectrum of MYO15A variants, potentially benefiting the early diagnosis, prevention, and treatment of the disease.


Subject(s)
Deafness , Hearing Loss, Sensorineural , Humans , Myosins/genetics , Deafness/genetics , Hearing Loss, Sensorineural/genetics , Genes, Recessive , Pedigree , Mutation
5.
J Agric Food Chem ; 72(27): 15128-15132, 2024 Jul 10.
Article in English | MEDLINE | ID: mdl-38920291

ABSTRACT

The 4th International Symposium on Food Science, Nutrition and Health (ISFSNH) was held at the Shangri-La Hotel in Dalian, China, on May 29-31, 2023. The symposium explored the connotations and needs of "The Great Food Perspective" under the theme "Focusing on new discoveries in food technology and creating a new future of nutrition and health" to better address the global emerging diverse food needs. The ISFSNH covered four areas: (1) food processing theory and technology, (2) food safety and quality control, (3) precision nutrition and health, and (4) creation of nutritious and healthy foods. More than 1000 scholars and entrepreneurs from more than 100 colleges and universities globally attended the conference. This special issue of the Journal of Agricultural and Food Chemistry highlights the important topics of the 4th ISFSNH and includes more than 20 papers.


Subject(s)
Food Technology , China , Humans , Food Safety
6.
Carbohydr Polym ; 335: 122079, 2024 Jul 01.
Article in English | MEDLINE | ID: mdl-38616076

ABSTRACT

The polysaccharides and triterpenes are important functional components of Ganoderma lucidum, but traditional preparation process of G. lucidum functional components can only realize the preparation of single functional component, which has poor targeting and low efficiency. In this study, the existence state of the functional components of G. lucidum was revealed. Then, the single step extraction process for functional components was established, and the precise structure evaluation of polysaccharide and triterpenes was conducted based on the process. The results showed that preparation time required for this strategy is only one-sixth of the traditional one, and 50 % of raw materials can be saved. Structural analysis of the functional components revealed that triterpenes were mainly Ganoderic acid and Lucidenic acid, and the polysaccharide structure was mainly 1,3-glucan and 1,3,6-glucan. The establishment of single step extraction strategy and the evaluation of the fine structure of functional components improved the efficiency of preparation and result determination, and provided an important basis for the development and utilization of green and low-carbon G. lucidum and even edible fungi resources and human nutritional dietary improvement strategies.


Subject(s)
Reishi , Triterpenes , Humans , Polysaccharides , Glucans , China
7.
Adv Mater ; : e2407856, 2024 Jul 20.
Article in English | MEDLINE | ID: mdl-39032113

ABSTRACT

Wetting behaviors can significantly affect the transport of energy and signal (E&S) through vapor, solid, and liquid interfaces, which has prompted increased interest in interfacial science and technology. E&S transmission can be achieved using electricity, light, and heat, which often accompany and interact with each other. Over the past decade, their distinctive transport phenomena during wetting processes have made significant contributions to various domains. However, few studies have analyzed the intricate relationship between wetting behavior and E&S transport. This review summarizes and discusses the mechanisms of electrical, light, and heat transmission at wetting interfaces to elucidate their respective scientific issues, technical characteristics, challenges, commonalities, and potential for technological convergence. The materials, structures, and devices involved in E&S transportation are also analyzed. Particularly, harnessing synergistic advantages in practical applications and constructing advanced, multifunctional, and highly efficient smart systems based on wetted interfaces is the aim to provide strategies.

8.
J Agric Food Chem ; 2024 Apr 12.
Article in English | MEDLINE | ID: mdl-38606987

ABSTRACT

A primary challenge of polysaccharide analysis is the need for comprehensive extraction and characterization methods. In this study, mulberry polysaccharides at different maturities were fully extracted through a two-step process involving ethylenediaminetetraacetic acid (EDTA) and sodium hydroxide (NaOH), and their structures were determined by a combination analysis of monosaccharides and glycosidic linkages based on liquid chromatography triple quadrupole mass spectrometry (LC/QqQ-MS). The results indicate mulberry polysaccharides mainly contain highly branched pectic polysaccharides, (1,3,6)-linked glucan, xylan, and xyloglucan, but the content of different portions varies at different maturity stages. HG decreases from 19.12 and 19.14% (green mulberry) to 9.80 and 6.08% (red mulberry) but increases to 17.83 and 11.83% as mulberry transitioned from red to black. In contrast, the contents of glucan showed opposite trends. When mulberry turns red to black, the RG-I arabinan chains decrease from 47.75 and 28.86% to 13.16 and 12.72%, while the galactan side chains increase from 1.18 and 1.91 to 8.3 and 6.49%, xylan and xyloglucan show an increase in content. Overall, the two-step extraction combined with LC/QqQ-MS provides a new strategy for extensive analysis of complex plant polysaccharides.

9.
Int J Biol Macromol ; 258(Pt 2): 128777, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38096935

ABSTRACT

Microcapsules were always used as functional material carriers for targeted delivery and meanwhile offering protection. However, microcapsule wall materials with specific properties were required, which makes the choice of wall material a key factor. In our previous study, a highly branched rhamnogalacturonan I rich (RG-I-rich) pectin was extracted from citrus canning processing water, which showed good gelling properties and binding ability, indicating it could be a potential microcapsule wall material. In the present study, Lactiplantibacillus plantarum GDMCC 1.140 and Lactobacillus rhamnosus were encapsulated by RG-I-rich pectin with embedding efficiencies of about 65 %. The environmental tolerance effect was evaluated under four different environmental stresses. Positive protection results were obtained under all four conditions, especially under H2O2 stress, the survival rate of probiotics embedded in microcapsules was about double that of free probiotics. The storage test showed that the total plate count of L. rhamnosus encapsulated in RG-I-rich pectin microcapsules could still reach 6.38 Log (CFU/mL) at 25 °C for 45 days. Moreover, probiotics embedded in microcapsules with additional incubation to form a biofilm layer inside could further improve the probiotics' activities significantly in the above experiments. In conclusion, RG-I-rich pectin may be a good microcapsule wall material for probiotics protection.


Subject(s)
Hydrogen Peroxide , Probiotics , Capsules/chemistry , Pectins/chemistry , Probiotics/chemistry
10.
Plants (Basel) ; 13(12)2024 Jun 20.
Article in English | MEDLINE | ID: mdl-38931142

ABSTRACT

Computer-aided design usually gives inspirations and has become a vital strategy to develop novel pesticides through reconstructing natural lead compounds. Patulin, an unsaturated heterocyclic lactone mycotoxin, is a new natural PSII inhibitor and shows significant herbicidal activity to various weeds. However, some evidence, especially the health concern, prevents it from developing as a bioherbicide. In this work, molecular docking and toxicity risk prediction are combined to construct interaction models between the ligand and acceptor, and design and screen novel derivatives. Based on the analysis of a constructed patulin-Arabidopsis D1 protein docking model, in total, 81 derivatives are designed and ranked according to quantitative estimates of drug-likeness (QED) values and free energies. Among the newly designed derivatives, forty-five derivatives with better affinities than patulin are screened to further evaluate their toxicology. Finally, it is indicated that four patulin derivatives, D3, D6, D34, and D67, with higher binding affinity but lower toxicity than patulin have a great potential to develop as new herbicides with improved potency.

11.
ACS Appl Mater Interfaces ; 16(29): 38429-38441, 2024 Jul 24.
Article in English | MEDLINE | ID: mdl-38943568

ABSTRACT

Biofilm-associated infections remain a tremendous obstacle to the treatment of microbial infections globally. However, the poor penetrability to a dense extracellular polymeric substance matrix of traditional antibacterial agents limits their antibiofilm activity. Here, we show that nanoaggregates formed by self-assembly of amphiphilic borneol-guanidine-based cationic polymers (BGNx-n) possess strong antibacterial activity and can eliminate mature Staphylococcus aureus (S. aureus) biofilms. The introduction of the guanidine moiety improves the hydrophilicity and membrane penetrability of BGNx-n. The self-assembled nanoaggregates with highly localized positive charges are expected to enhance their interaction with negatively charged bacteria and biofilms. Furthermore, nanoaggregates dissociate on the surface of biofilms into smaller BGNx-n polymers, which enhances their ability to penetrate biofilms. BGNx-n nanoaggregates that exhibit superior antibacterial activity have the minimum inhibitory concentration (MIC) of 62.5 µg·mL-1 against S. aureus and eradicate mature biofilms at 4 × MIC with negligible hemolysis. Taken together, this size-variable self-assembly system offers a promising strategy for the development of effective antibiofilm agents.


Subject(s)
Anti-Bacterial Agents , Biofilms , Camphanes , Guanidine , Microbial Sensitivity Tests , Polymers , Staphylococcus aureus , Biofilms/drug effects , Staphylococcus aureus/drug effects , Anti-Bacterial Agents/pharmacology , Anti-Bacterial Agents/chemistry , Anti-Bacterial Agents/chemical synthesis , Guanidine/chemistry , Guanidine/pharmacology , Camphanes/chemistry , Camphanes/pharmacology , Polymers/chemistry , Polymers/pharmacology , Surface-Active Agents/chemistry , Surface-Active Agents/pharmacology , Humans , Hydrophobic and Hydrophilic Interactions
12.
Carbohydr Polym ; 343: 122478, 2024 Nov 01.
Article in English | MEDLINE | ID: mdl-39174101

ABSTRACT

Lentinula edodes (Shiitake) is an important edible mushroom and polysaccharides are its major constituents with proven health benefits. The study was to investigate the gut bacterial fermentation and subsequent effects on gut barrier function of a glucan-rich polysaccharide, LePS40 precipitated from the mushroom water extract with 40 % (v/v) ethanol. LePS40 consisted of a ß-(1→3)-glucan main chain with substitution in the C-6 position with side chains mainly composed of (1 → 6)-linked ß-Glcp residues, (1 → 6)-linked α-Galp residues and terminal residues of ß-Glcp. LePS40 was found highly resistant to digestive enzymes and gastric acid in simulated human gastrointestinal tract, but highly fermentable during in vitro human fecal fermentation. The fecal fermentation degradation of LePS40 appeared to selectively break the glucoside linkage in view of the dramatic decrease in the glucose molar ratio (12.68 to 1.07). Compared with the prebiotic reference FOS, LePS40 led to much higher levels of butyric, and propionic acid and a lower level of acetic acid. Moreover, LePS40 enhanced the abundance of some beneficial bacterial populations, but decreased the bacteria possibly linked with fatty-liver disease and colorectal cancer. Furthermore, the fecal fermentation products of LePS40 showed a potential protective effect on intestinal barrier function against inflammatory damage in Caco-2/Raw264.7 co-culture model. These findings suggest the potential of LePS40 for improvement of gut health through modulation of gut microbiota.


Subject(s)
Fermentation , Gastrointestinal Microbiome , Shiitake Mushrooms , Shiitake Mushrooms/chemistry , Shiitake Mushrooms/metabolism , Humans , Gastrointestinal Microbiome/drug effects , Caco-2 Cells , Animals , Feces/microbiology , Polysaccharides/pharmacology , Polysaccharides/chemistry , Polysaccharides/metabolism , Digestion/drug effects , Molecular Weight , Mice , Intestinal Mucosa/metabolism , Prebiotics
13.
Pest Manag Sci ; 80(1): 133-148, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37103431

ABSTRACT

BACKGROUND: Bioherbicides are becoming more attractive as safe weed control tools towards sustainable agriculture. Natural products constitute an important source chemicals and chemical leads for discovery and development of novel pesticide target sites. Citrinin is a bioactive compound produced by fungi of the genera Penicillium and Aspergillus. However, its physiological-biochemical mechanism as a phytotoxin remains unclear. RESULTS: Citrinin causes visible leaf lesions on Ageratina adenophora similar to those produced by the commercial herbicide bromoxynil. Phytotoxicity bioassay tests using 24 plant species confirmed that citrinin has a broad activity spectrum and therefore has potential as a bioherbicide. Based on chlorophyll fluorescence studies, citrinin mainly blocks PSII electron flow beyond plastoquinone QA at the acceptor side, resulting in the inactivation of PSII reaction centers. Furthermore, molecular modeling of citrinin docking to the A. adenophora D1 protein suggests that it binds to the plastoquinone QB site by a hydrogen bond between the O1 hydroxy oxygen atom of citrinin and the histidine 215 of the D1 protein, the same way as classical phenolic PSII herbicides do. Finally, 32 new citrinin derivatives were designed and sorted according to free energies on the basis of the molecular model of an interaction between the citrinin molecule and the D1 protein. Five of the modeled compounds had much higher ligand binding affinity within the D1 protein compared with lead compound citrinin. CONCLUSION: Citrinin is a novel natural PSII inhibitor that has the potential to be developed into a bioherbicide or utilized as a lead compound for discovery of new derivatives with high herbicidal potency. © 2023 Society of Chemical Industry.


Subject(s)
Citrinin , Herbicides , Photosystem II Protein Complex/metabolism , Plastoquinone/chemistry , Plastoquinone/metabolism , Herbicides/pharmacology , Herbicides/metabolism , Weed Control
14.
J Hypertens ; 42(9): 1606-1614, 2024 Sep 01.
Article in English | MEDLINE | ID: mdl-38780189

ABSTRACT

BACKGROUND: Unhealthy sleep patterns are common during pregnancy and have been associated with an increased risk of developing hypertensive disorders of pregnancy (HDPs) in observational studies. However, the causality underlying these associations remains uncertain. This study aimed to evaluate the potential causal association between seven sleep traits and the risk of HDPs using a two-sample Mendelian randomization study. METHODS: Genome-wide association study (GWAS) summary statistics were obtained from the FinnGen consortium, UK Biobank, and other prominent consortia, with a focus on individuals of European ancestry. The primary analysis utilized an inverse-variance-weighted MR approach supplemented by sensitivity analyses to mitigate potential biases introduced by pleiotropy. Furthermore, a two-step MR framework was employed for mediation analyses. RESULTS: The data analyzed included 200 000-500 000 individuals for each sleep trait, along with approximately 15 000 cases of HDPs. Genetically predicted excessive daytime sleepiness (EDS) exhibited a significant association with an increased risk of HDPs [odds ratio (OR) 2.96, 95% confidence interval (95% CI) 1.40-6.26], and the specific subtype of preeclampsia/eclampsia (OR 2.97, 95% CI 1.06-8.3). Similarly, genetically predicted obstructive sleep apnea (OSA) was associated with a higher risk of HDPs (OR 1.27, 95% CI 1.09-1.47). Sensitivity analysis validated the robustness of these associations. Mediation analysis showed that BMI mediated approximately 25% of the association between EDS and HDPs, while mediating up to approximately 60% of the association between OSA and the outcomes. No statistically significant associations were observed between other genetically predicted sleep traits, such as chronotype, daytime napping, sleep duration, insomnia, snoring, and the risk of HDPs. CONCLUSION: Our findings suggest a causal association between two sleep disorders, EDS and OSA, and the risk of HDPs, with BMI acting as a crucial mediator. EDS and OSA demonstrate promise as potentially preventable risk factors for HDPs, and targeting BMI may represent an alternative treatment strategy to mitigate the adverse impact of sleep disorders.


Subject(s)
Genome-Wide Association Study , Hypertension, Pregnancy-Induced , Mendelian Randomization Analysis , Humans , Female , Pregnancy , Hypertension, Pregnancy-Induced/genetics , Hypertension, Pregnancy-Induced/epidemiology , Risk Factors , Sleep/genetics
15.
Clin Transl Med ; 14(7): e1759, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38997803

ABSTRACT

BACKGROUND: CircRNA-encoded proteins (CEPs) are emerging as new players in health and disease, and function as baits for the common partners of their cognate linear-spliced RNA encoded proteins (LEPs). However, their prevalence across human tissues and biological roles remain largely unexplored. The placenta is an ideal model for identifying CEPs due to its considerable protein diversity that is required to sustain fetal development during pregnancy. The aim of this study was to evaluate circRNA translation in the human placenta, and the potential roles of the CEPs in placental development and dysfunction. METHODS: Multiomics approaches, including RNA sequencing, ribosome profiling, and LC-MS/MS analysis, were utilised to identify novel translational events of circRNAs in human placentas. Bioinformatics methods and the protein bait hypothesis were employed to evaluate the roles of these newly discovered CEPs in placentation and associated disorders. The pathogenic role of a recently identified CEP circPRKCB119aa in preeclampsia was investigated through qRT-PCR, Western blotting, immunofluorescence imaging and phenotypic analyses. RESULTS: We found that 528 placental circRNAs bound to ribosomes with active translational elongation, and 139 were translated to proteins. The CEPs showed considerable structural homology with their cognate LEPs, but are more stable, hydrophobic and have a lower molecular-weight than the latter, all of which are conducive to their function as baits. On this basis, CEPs are deduced to be closely involved in placental function. Furthermore, we focused on a novel CEP circPRKCB119aa, and illuminated its pathogenic role in preeclampsia; it enhanced trophoblast autophagy by acting as a bait to inhibit phosphorylation of the cognate linear isoform PKCß. CONCLUSIONS: We discovered a hidden circRNA-encoded proteome in the human placenta, which offers new insights into the mechanisms underlying placental development, as well as placental disorders such as preeclampsia. Key points A hidden circRNA-encoded proteome in the human placenta was extensively identified and systematically characterised. The circRNA-encoded proteins (CEPs) are potentially related to placental development and associated disorders. A novel conserved CEP circPRKCB119aa enhanced trophoblast autophagy by inhibiting phosphorylation of its cognate linear-spliced isoform protein kinase C (PKC) ß in preeclampsia.


Subject(s)
Placenta , Pre-Eclampsia , Proteome , RNA, Circular , Humans , Pre-Eclampsia/genetics , Pre-Eclampsia/metabolism , Pregnancy , Female , RNA, Circular/genetics , RNA, Circular/metabolism , Placenta/metabolism , Proteome/metabolism , Proteome/genetics
16.
Genet. mol. biol ; 40(3): 591-596, July-Sept. 2017. tab, graf
Article in English | LILACS | ID: biblio-892423

ABSTRACT

Abstract X-linked intellectual disability (XLID) has been associated with various genes. Diagnosis of XLID, especially for non-syndromic ones (NS-XLID), is often hampered by the heterogeneity of this disease. Here we report the case of a Chinese family in which three males suffer from intellectual disability (ID). The three patients shared the same phenotype: no typical clinical manifestation other than IQ score ≤ 70. For a genetic diagnosis for this family we carried out whole exome sequencing on the proband, and validated 16 variants of interest in the genomic DNA of all the family members. A missense mutation (c.710G > T), which mapped to exon 6 of the Rab GDP-Dissociation Inhibitor 1 (GDI1) gene, was found segregating with the ID phenotype, and this mutation changes the 237th position in the guanosine diphosphate dissociation inhibitor (GDI) protein from glycine to valine (p. Gly237Val). Through molecular dynamics simulations we found that this substitution results in a conformational change of GDI, possibly affecting the Rab-binding capacity of this protein. In conclusion, our study identified a novel GDI1 mutation that is possibly NS-XLID causative, and showed that whole exome sequencing provides advantages for detecting novel ID-associated variants and can greatly facilitate the genetic diagnosis of the disease.

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