Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 64
Filter
1.
Clin Rheumatol ; 43(7): 2253-2260, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38842744

ABSTRACT

Up to 30% of patients with celiac disease (CD) suffer from concurrent autoimmune disease, compared to 3% of the general population. The association between CD and the current clinical phenotypes of inflammatory myopathies (IIM) patients has not been thoroughly addressed. Assess the CD features among patients with IIM and their relationship with the clinical phenotype and the myositis specific (MSA) and associated antibodies (MAA). For this cross-sectional study, we recruited 99 adult patients classified as IIM from a tertiary center in Mexico. We assessed serum MSA, MAA, and CD-associated autoantibodies (IgA anti-tissue transglutaminase (tTG) and both IgA and IgG anti-deaminated gliadin peptide (DGP)). Patients with highly suggestive serology for CD were then tested for IgG anti-endomysium antibodies, and a duodenal biopsy was performed. 70.7% of patients were positive for at least one antibody. Nine duodenal biopsies were taken, revealing findings compatible with celiac disease in two cases. Subjects with anti-MDA5 antibodies were more likely to have positive anti-tTG IgA antibodies (OR 6.76, 95% CI 1.85-24.62, P = 0.013) and suggestive CD serology (OR 6.41, 95% CI 1.62-25.29, P = 0.009). Patients with anti-Mi2 antibodies were more likely to have positive anti-DGP IgG antibodies (OR 3.35, 95% CI 1.12-9.96, P = 0.039), while positivity for these autoantibodies was less frequent in patients with anti-NXP2 antibodies (OR 0.22, 95% CI 0.06-0.80, P = 0.035). There is a higher prevalence of serologic and definite CD in patients with IIM compared to the general population. Identifying this subgroup of patients may have prognostic and therapeutic implications. Key points • The study estimated a serological celiac disease (CD) prevalence of 70.7% in patients with idiopathic inflammatory myopathies (IIM) and a biopsy-confirmed prevalence of 2%, suggesting that IIM patients should be considered a high-risk population for CD. • We identified a significant association between serological CD and the presence of anti-MDA5 and anti-Mi2 antibodies, suggesting a potential justification for celiac disease screening in this specific subgroup of patients. • The impact of gluten-free diets on IIM patients with serological markers of CD remains untested and warrants further investigation through prospective, randomized studies.


Subject(s)
Autoantibodies , Celiac Disease , Myositis , Humans , Celiac Disease/epidemiology , Celiac Disease/immunology , Celiac Disease/blood , Celiac Disease/diagnosis , Celiac Disease/complications , Cross-Sectional Studies , Female , Male , Middle Aged , Adult , Prevalence , Autoantibodies/blood , Myositis/immunology , Myositis/epidemiology , Myositis/blood , Mexico/epidemiology , Transglutaminases/immunology , Aged , Immunoglobulin A/blood , Gliadin/immunology , Immunoglobulin G/blood , Protein Glutamine gamma Glutamyltransferase 2
2.
Water Sci Technol ; 89(6): 1454-1465, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38557711

ABSTRACT

We used bench-scale tests and mathematical modeling to explore chemical oxygen demand (COD) removal rates in a moving-bed biofilm reactor (MBBR) for winery wastewater treatment, using either urea or nitrate as a nitrogen source. With urea addition, the COD removal fluxes ranged from 34 to 45 gCOD/m2-d. However, when nitrate was added, fluxes increased up to 65 gCOD/m2-d, twice the amount reported for aerobic biofilms for winery wastewater treatment. A one-dimensional biofilm model, calibrated with data from respirometric tests, accurately captured the experimental results. Both experimental and modelling results suggest that nitrate significantly increased MBBR capacity by stimulating COD oxidation in the deeper, oxygen-limited regions of the biofilm. Our research suggests that the addition of nitrate, or other energetic and broadly used electron acceptors, may provide a cost-effective means of covering peak COD loads in biofilm processes for winery or another industrial wastewater treatment.


Subject(s)
Waste Disposal, Fluid , Water Purification , Waste Disposal, Fluid/methods , Nitrates , Biofilms , Bioreactors , Organic Chemicals , Water Purification/methods , Nitrogen , Urea , Denitrification
3.
World J Nephrol ; 13(1): 88972, 2024 Mar 25.
Article in English | MEDLINE | ID: mdl-38596269

ABSTRACT

BACKGROUND: The association between congenital heart disease and chronic kidney disease is well known. Various mechanisms of kidney damage associated with congenital heart disease have been established. The etiology of kidneydisease has commonly been considered to be secondary to focal segmental glomerulosclerosis (FSGS), however, this has only been demonstrated in case reports and not in observational or clinical trials. AIM: To identify baseline and clinical characteristics, as well as the findings in kidney biopsies of patients with congenital heart disease in our hospital. METHODS: This is a retrospective observational study conducted at the Nephrology Department of the National Institute of Cardiology "Ignacio Chávez". All patients over 16 years old who underwent percutaneous kidney biopsy from January 2000 to January 2023 with congenital heart disease were included in the study. RESULTS: Ten patients with congenital heart disease and kidney biopsy were found. The average age was 29.00 years ± 15.87 years with pre-biopsy proteinuria of 6193 mg/24 h ± 6165 mg/24 h. The most common congenital heart disease was Fallot's tetralogy with 2 cases (20%) and ventricular septal defect with 2 (20%) cases. Among the 10 cases, one case of IgA nephropathy and one case of membranoproliferative glomerulonephritis associated with immune complexes were found, receiving specific treatment after histopathological diagnosis, delaying the initiation of kidney replacement therapy. Among remaining 8 cases (80%), one case of FSGS with perihilar variety was found, while the other 7 cases were non-specific FSGS. CONCLUSION: Determining the cause of chronic kidney disease can help in delaying the need for kidney replacement therapy. In 2 out of 10 patients in our study, interventions were performed, and initiation of kidney replacement therapy was delayed. Prospective studies are needed to determine the usefulness of kidney biopsy in patients with congenital heart disease.

4.
J Clin Med ; 13(6)2024 Mar 11.
Article in English | MEDLINE | ID: mdl-38541826

ABSTRACT

Background: Rejection continues to be the main cause of renal graft loss. Currently, the gold standard for diagnosis is an allograft biopsy; however, because it is time-consuming, costly, and invasive, the pursuit of novel biomarkers has gained interest. Variation in the expressions of miRNAs is currently considered a probable biomarker for the diagnosis of acute rejection. This study aimed to determine whether miR-150-5p in serum is related to microvascular damage in patients with acute antibody-mediated rejection (ABMR). Methods: A total of 27 patients who underwent renal transplantation (RT) with and without ABMR were included in the study. We performed the quantification of hsa-miR-150-5p, hsa-miR-155, hsa-miR-21, hsa-miR-126, and hsa-miR-1 in plasma by RT-qPCR. The expressions between the groups and their correlations with the histological characteristics of the patients with ABMR were also investigated. Results: miR-150-5p significantly increased in the plasma of patients with rejection (p < 0.05), and the changes in miR-150-5p were directly correlated with microvascular inflammation in the allograft biopsies. Clinical utility was determined by ROC analysis with an area under the curve of 0.873. Conclusions: Our results show that the patients with RT with ABMR exhibited increased expression of miR-150-5p compared to patients without rejection, which could have clinical consequences, as well as probable utility in the diagnosis of ABMR, and bioinformatics may help in unraveling the molecular mechanisms underlying ABMR conditions.

5.
Front Microbiol ; 14: 1251602, 2023.
Article in English | MEDLINE | ID: mdl-37954249

ABSTRACT

Introduction: This work investigates whether rhizosphere microorganisms that colonize halophyte plants thriving in saline habitats can tolerate salinity and provide beneficial effects to their hosts, protecting them from environmental stresses, such as aromatic compound (AC) pollution. Methods: To address this question, we conducted a series of experiments. First, we evaluated the effects of phenol, tyrosine, 4-hydroxybenzoic acid, and 2,4-dichlorophenoxyacetic (2,4-D) acids on the soil rhizosphere microbial community associated with the halophyte Allenrolfea vaginata. We then determined the ability of bacterial isolates from these microbial communities to utilize these ACs as carbon sources. Finally, we assessed their ability to promote plant growth under saline conditions. Results: Our study revealed that each AC had a different impact on the structure and alpha and beta diversity of the halophyte bacterial (but not archaeal) communities. Notably, 2,4-D and phenol, to a lesser degree, had the most substantial decreasing effects. The removal of ACs by the rhizosphere community varied from 15% (2,4-D) to 100% (the other three ACs), depending on the concentration. Halomonas isolates were the most abundant and diverse strains capable of degrading the ACs, with strains of Marinobacter, Alkalihalobacillus, Thalassobacillus, Oceanobacillus, and the archaea Haladaptatus also exhibiting catabolic properties. Moreover, our study found that halophile strains Halomonas sp. LV-8T and Marinobacter sp. LV-48T enhanced the growth and protection of Arabidopsis thaliana plants by 30% to 55% under salt-stress conditions. Discussion: These results suggest that moderate halophile microbial communities may protect halophytes from salinity and potential adverse effects of aromatic compounds through depurative processes.

6.
Clin Case Rep ; 11(10): e8028, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37881199

ABSTRACT

Diastrophic dysplasia (DTD) is caused by biallelic pathogenic variants in the SLC26A2 gene. We report the case of a 49-year-old female with DTD and esophageal stenosis. This broadens the phenotypic spectrum in adult patients with DTD and raises awareness of extra-skeletal manifestations that could develop in later stages of life.

7.
Front Nephrol ; 3: 1084188, 2023.
Article in English | MEDLINE | ID: mdl-37675383

ABSTRACT

Chronic kidney disease (CKD) has become a global health problem. In 2019, it was related to 2.53% of general global mortality (2.35-2.66%); in the same year, in Latin America, mortality related to CKD reached 5.25% (4.92-5.49%), with an annual increase of 3.37%, proving increased mortality of 102% between 1990 and 2017. A nephrology specialty in Mexico recently fulfilled its first 50 years. Despite being relatively young, nephrologists are interested in "new" sub-specialties of nephrology and learning novel techniques and problem-solving skills. Our group is the first in our country to focus solely and exclusively on comprehensive VA care and we want to position ourselves as the first Mexican interdisciplinary group focused on vascular access (GIMEXAV).

9.
J Clin Med ; 12(5)2023 Feb 27.
Article in English | MEDLINE | ID: mdl-36902674

ABSTRACT

IgA nephropathy is the most common form of primary glomerulonephritis. While associations of IgA and other glomerular diseases have been described, the association of IgA nephropathy with "primary" podocytopathy is rare and has not been reported in pregnancy, due in part to the infrequent use of kidney biopsy during pregnancy, and a frequent overlap with preeclampsia. We report the case of a 33-year-old woman with normal kidney function, referred in the 14th gestational week of her second pregnancy, due to nephrotic proteinuria and macroscopic hematuria. The baby's growth was normal. The patient reported episodes of macrohematuria one year previously. A kidney biopsy performed at 18 gestational weeks confirmed IgA nephropathy, associated with extensive podocyte damage. Treatment with steroids and tacrolimus led to remission of proteinuria and a healthy baby, adequate for gestational age, was delivered at 34 gestational weeks and 6 days (premature rupture of membranes). Six months after delivery, proteinuria was about 500 mg per day, with normal blood pressure and kidney function. This case highlights the importance of timely diagnosis in pregnancy and underlines that good maternal and fetal outcomes can be achieved with appropriate treatment, even in complex or severe cases.

10.
Sci Total Environ ; 872: 162195, 2023 May 10.
Article in English | MEDLINE | ID: mdl-36781131

ABSTRACT

Co-design processes are of key importance in planning and implementing Nature-based Solutions (NBS), but require boundary management between diverse holders of local, practical and scientific knowledge. Participatory and map-based planning tools, such as Geodesign workshops, can facilitate such boundary management through mobilising knowledge holders, and translating and negotiating between different perspectives. The COVID-19 pandemic hindered physical mobility, but offered an, albeit unintended, opportunity to explore new ways of virtual mobility for facilitating boundary management in NBS co-design through digital participatory tools. This short communication aims to demonstrate how a spatial planning process for NBS can be facilitated in an online context. We draw on an international case study for co-designing NBS in Costa Rica, conducted during the severe lock-down restriction of the COVID-19 pandemic. This novel approach showcases how physical presence and movement is replaced by virtual mobility enabled through an online geographic map-based environment that allowed participants to communicate their opinions and co-create local and regional NBS actions. The case study included developing and testing a co-design tool to understand and map local perceptions of social-ecological problems, and an actual co-design process for siting NBS options and jointly exploring their implications. We present two levels of the process: 1) the adaptation of the co-design tool, and 2) the use and usefulness of the co-design tool. Our evaluation shows that the tool served its purpose well and provided useful support to local stakeholders. We recommend to test further strategical combinations of in-person and virtual methods in NBS co-design processes to improve NBS planning and implementation.


Subject(s)
COVID-19 , Rivers , Humans , Costa Rica , Pandemics , Communicable Disease Control
12.
J Emerg Manag ; 19(8): 235-253, 2022.
Article in English | MEDLINE | ID: mdl-36239511

ABSTRACT

Based on a survey of stakeholders from 34 municipalitiesin Puerto Rico 1 year following HurricaneMaria, this study reports on progress and prioritiesfor longer-term recovery. Following a description ofthe storm and its impacts and an overview of recoveryprinciples, initial insights expressed after the stormare studied. Over 56 percent of respondents rankedthe need for equity considerations as the top recoverypriority, while 23 percent ranked building back faster,and 11 percent supported building back stronger as thetop priority. Building back greener was the top recoverygoal for 10 percent of the respondents. In addition tobroad recovery goals, specific actions and initiatives tosupport recovery are also investigated. While the needsfor more robust data collection and information sharingemerged, gaps in training and capacity buildingwere also reported. The analysis sheds light on the needfor more participatory, deliberative processes, and thechallenges of leadership, management, and inclusivegovernance following large-scale disasters. The findingsare relevant to other island communities and thedevelopment of effective systems for disaster recovery.


Subject(s)
Cyclonic Storms , Disasters , Humans , Leadership , Puerto Rico , Surveys and Questionnaires
13.
BMC Microbiol ; 22(1): 218, 2022 09 17.
Article in English | MEDLINE | ID: mdl-36114465

ABSTRACT

BACKGROUND: Rhizosphere microorganisms play a crucial role in plant health and development. Plant root exudates (PRE) are a complex mixture of organic molecules and provide nutritional and signaling information to rhizosphere microorganisms. Burkholderiaceae species are non-abundant in the rhizosphere but exhibit a wide range of plant-growth-promoting and plant-health-protection effects. Most of these plant-associated microorganisms have been studied in isolation under laboratory conditions, whereas in nature, they interact in competition or cooperation with each other. To improve our understanding of the factors driving growth dynamics of low-abundant bacterial species in the rhizosphere, we hypothesized that the growth and survival of four Burkholderiaceae strains (Paraburkholderia phytofirmans PsJN, Cupriavidus metallidurans CH34, C. pinatubonensis JMP134 and C. taiwanensis LMG19424) in Arabidopsis thaliana PRE is affected by the presence of each other. RESULTS: Differential growth abilities of each strain were found depending on plant age and whether PRE was obtained after growth on N limitation conditions. The best-adapted strain to grow in PRE was P. phytofirmans PsJN, with C. pinatubonensis JMP134 growing better than the other two Cupriavidus strains. Individual strain behavior changed when they succeeded in combinations. Clustering analysis showed that the 4-member co-culture grouped with one of the best-adapted strains, either P. phytofirmans PsJN or C. pinatubonensis JMP134, depending on the PRE used. Sequential transference experiments showed that the behavior of the 4-member co-culture relies on the type of PRE provided for growth. CONCLUSIONS: The results suggest that individual strain behavior changed when they grew in combinations of two, three, or four members, and those changes are determined first by the inherent characteristics of each strain and secondly by the environment.


Subject(s)
Arabidopsis , Burkholderia , Burkholderiaceae , Arabidopsis/microbiology , Complex Mixtures , Exudates and Transudates , Nutritional Status , Plants
14.
J Nephrol ; 35(9): 2293-2300, 2022 12.
Article in English | MEDLINE | ID: mdl-35994230

ABSTRACT

BACKGROUND: Kidney biopsy is a routine procedure in the diagnosis of kidney disease, but during pregnancy it carries potential adverse effects for both mother and child, aside from the challenges of obtaining adequate tissue samples. Nevertheless, a precise diagnosis is necessary when specific and potentially toxic treatments are to be used during pregnancy. The present report presents our experience with regard to the usefulness and safety of kidney biopsies during pregnancy. METHODS: Retrospective analysis of clinical indications, complications, histopathological diagnoses, and treatment of patients who had kidney biopsies done at a single academic center during gestation weeks 11-30 between January 2015 and January 2019. RESULTS: Kidney biopsies were carried out in 20 pregnant patients with nephrotic proteinuria. Biopsy was adequate in all patients. The histological diagnoses included focal segmental glomerulosclerosis (collapsing, tip and perihiliar varieties), membranous lupus nephropathy, diabetic nephropathy, and IgA nephropathy. Treatment was associated with reduction of proteinuria in 17 patients and reduction of serum creatinine in 9 out of 11 patients who had serum creatinine ≥ 1 mg/dl at the time of biopsy. There was one major bleeding complication that required transfusion of one unit of blood. There was a high incidence of preeclampsia, preterm delivery, and low birth weight despite appropriate kidney disease therapy. CONCLUSIONS: Kidney biopsy may be done during pregnancy when therapeutic decisions depend on a precise pathologic diagnosis.


Subject(s)
Diabetic Nephropathies , Glomerulonephritis, Membranous , Kidney Diseases , Female , Humans , Infant, Newborn , Pregnancy , Biopsy/adverse effects , Creatinine , Diabetic Nephropathies/pathology , Glomerulonephritis, Membranous/pathology , Kidney/pathology , Kidney Diseases/pathology , Mexico/epidemiology , Proteinuria/epidemiology , Retrospective Studies
16.
Front Microbiol ; 12: 723874, 2021.
Article in English | MEDLINE | ID: mdl-34367123

ABSTRACT

Perchlorate is an oxidative pollutant toxic to most of terrestrial life by promoting denaturation of macromolecules, oxidative stress, and DNA damage. However, several microorganisms, especially hyperhalophiles, are able to tolerate high levels of this compound. Furthermore, relatively high quantities of perchlorate salts were detected on the Martian surface, and due to its strong hygroscopicity and its ability to substantially decrease the freezing point of water, perchlorate is thought to increase the availability of liquid brine water in hyper-arid and cold environments, such as the Martian regolith. Therefore, perchlorate has been proposed as a compound worth studying to better understanding the habitability of the Martian surface. In the present work, to study the molecular mechanisms of perchlorate resistance, a functional metagenomic approach was used, and for that, a small-insert library was constructed with DNA isolated from microorganisms exposed to perchlorate in sediments of a hypersaline pond in the Atacama Desert, Chile (Salar de Maricunga), one of the regions with the highest levels of perchlorate on Earth. The metagenomic library was hosted in Escherichia coli DH10B strain and exposed to sodium perchlorate. This technique allowed the identification of nine perchlorate-resistant clones and their environmental DNA fragments were sequenced. A total of seventeen ORFs were predicted, individually cloned, and nine of them increased perchlorate resistance when expressed in E. coli DH10B cells. These genes encoded hypothetical conserved proteins of unknown functions and proteins similar to other not previously reported to be involved in perchlorate resistance that were related to different cellular processes such as RNA processing, tRNA modification, DNA protection and repair, metabolism, and protein degradation. Furthermore, these genes also conferred resistance to UV-radiation, 4-nitroquinoline-N-oxide (4-NQO) and/or hydrogen peroxide (H2O2), other stress conditions that induce oxidative stress, and damage in proteins and nucleic acids. Therefore, the novel genes identified will help us to better understand the molecular strategies of microorganisms to survive in the presence of perchlorate and may be used in Mars exploration for creating perchlorate-resistance strains interesting for developing Bioregenerative Life Support Systems (BLSS) based on in situ resource utilization (ISRU).

17.
Life (Basel) ; 11(7)2021 Jul 07.
Article in English | MEDLINE | ID: mdl-34357038

ABSTRACT

Vascular calcifications affect 80% to 90% of chronic kidney disease patients and are a predictive factor of cardiovascular mortality. Sarcopenia and protein-energy wasting syndrome are also associated with mortality. The aim was to assess the relationship between vascular calcification, sarcopenia, and protein-energy wasting syndrome (PEW) in automated peritoneal dialysis patients. Fifty-one maintenance automated peritoneal dialysis patients were included (27 were male, mean age 39 ± 14 years). Vascular calcification was assessed based on abdomen, pelvis, and hand radiographs. Sarcopenia was assessed with bioimpedance analysis and a hand grip strength test. The Malnutrition-Inflammation Score and the presence of PEW were also assessed. Vascular calcification was present in 21 patients (41.2%). Univariate logistic regression analysis showed that age (p = 0.001), Malnutrition-Inflammation Score (p = 0.022), PEW (p = 0.049), sarcopenia (p = 0.048), and diabetes (p = 0.010) were associated with vascular calcification. Multivariate logistic regression analysis showed that age (p = 0.006) was the only variable associated independently with vascular calcification. In conclusion, there is association between vascular calcification, PEW, and sarcopenia in patients with maintenance automated peritoneal dialysis. These associations are not independent of age. This demonstrates the importance of nutritional status in the prevention of vascular calcification.

18.
Front Plant Sci ; 12: 650609, 2021.
Article in English | MEDLINE | ID: mdl-34149752

ABSTRACT

Synthetic microbial communities (SynComs) are a useful tool for a more realistic understanding of the outcomes of multiple biotic interactions where microbes, plants, and the environment are players in time and space of a multidimensional and complex system. Toward a more in-depth overview of the knowledge that has been achieved using SynComs in the rhizosphere, a systematic review of the literature on SynComs was performed to identify the overall rationale, design criteria, experimental procedures, and outcomes of in vitro or in planta tests using this strategy. After an extensive bibliography search and a specific selection process, a total of 30 articles were chosen for further analysis, grouping them by their reported SynCom size. The reported SynComs were constituted with a highly variable number of members, ranging from 3 to 190 strains, with a total of 1,393 bacterial isolates, where the three most represented phyla were Proteobacteria, Actinobacteria, and Firmicutes. Only four articles did not reference experiments with SynCom on plants, as they considered only microbial in vitro studies, whereas the others chose different plant models and plant-growth systems; some of them are described and reviewed in this article. Besides, a discussion on different approaches (bottom-up and top-down) to study the microbiome role in the rhizosphere is provided, highlighting how SynComs are an effective system to connect and fill some knowledge gaps and to have a better understanding of the mechanisms governing these multiple interactions. Although the SynCom approach is already helpful and has a promising future, more systematic and standardized studies are needed to harness its full potential.

19.
Microb Biotechnol ; 14(5): 1944-1960, 2021 09.
Article in English | MEDLINE | ID: mdl-34156761

ABSTRACT

The self-sufficient cytochrome P450 RhF and its homologues belonging to the CYP116B subfamily have attracted considerable attention due to the potential for biotechnological applications based in their ability to catalyse an array of challenging oxidative reactions without requiring additional protein partners. In this work, we showed for the first time that a CYP116B self-sufficient cytochrome P450 encoded by the ohpA gene harboured by Cupriavidus pinatubonensis JMP134, a ß-proteobacterium model for biodegradative pathways, catalyses the conversion of 2-hydroxyphenylacetic acid (2-HPA) into homogentisate. Mutational analysis and HPLC metabolite detection in strain JMP134 showed that 2-HPA is degraded through the well-known homogentisate pathway requiring a 2-HPA 5-hydroxylase activity provided by OhpA, which was additionally supported by heterologous expression and enzyme assays. The ohpA gene belongs to an operon including also ohpT, coding for a substrate-binding subunit of a putative transporter, whose expression is driven by an inducible promoter responsive to 2-HPA in presence of a predicted OhpR transcriptional regulator. OhpA homologues can be found in several genera belonging to Actinobacteria and α-, ß- and γ-proteobacteria lineages indicating a widespread distribution of 2-HPA catabolism via homogentisate route. These results provide first time evidence for the natural function of members of the CYP116B self-sufficient oxygenases and represent a significant input to support novel kinetic and structural studies to develop cytochrome P450-based biocatalytic processes.


Subject(s)
Cupriavidus , Cytochrome P-450 Enzyme System , Cupriavidus/genetics , Cytochrome P-450 Enzyme System/genetics , Phenylacetates
20.
Front Neurosci ; 15: 653120, 2021.
Article in English | MEDLINE | ID: mdl-34121987

ABSTRACT

The human gut microbiome is the ecosystem of microorganisms that live in the human digestive system. Several studies have related gut microbiome variants to metabolic, immune and nervous system disorders. Fragile X syndrome (FXS) is a neurodevelopmental disorder considered the most common cause of inherited intellectual disability and the leading monogenetic cause of autism. The role of the gut microbiome in FXS remains largely unexplored. Here, we report the results of a gut microbiome analysis using a FXS mouse model and 16S ribosomal RNA gene sequencing. We identified alterations in the fmr1 KO2 gut microbiome associated with different bacterial species, including those in the genera Akkermansia, Sutterella, Allobaculum, Bifidobacterium, Odoribacter, Turicibacter, Flexispira, Bacteroides, and Oscillospira. Several gut bacterial metabolic pathways were significantly altered in fmr1 KO2 mice, including menaquinone degradation, catechol degradation, vitamin B6 biosynthesis, fatty acid biosynthesis, and nucleotide metabolism. Several of these metabolic pathways, including catechol degradation, nucleotide metabolism and fatty acid biosynthesis, were previously reported to be altered in children and adults with autism. The present study reports a potential association of the gut microbiome with FXS, thereby opening new possibilities for exploring reliable treatments and non-invasive biomarkers.

SELECTION OF CITATIONS
SEARCH DETAIL