Metabolic brain disease最新文献

{"title":"Gallic acid ameliorates LPS-induced memory decline by modulating NF-κB, TNF-α, and Caspase 3 gene expression and attenuating oxidative stress and neuronal loss in the rat hippocampus.","authors":"Maryam Dastan, Ziba Rajaei, Mohammadreza Sharifi, Hossein Salehi","doi":"10.1007/s11011-024-01441-5","DOIUrl":"https://doi.org/10.1007/s11011-024-01441-5","url":null,"abstract":"<p><p>Neuroinflammation and apoptosis play critical roles in the pathogenesis of Alzheimer's disease (AD), which is responsible for most cases of dementia in the elderly people. Gallic acid is a phenolic compound with radical scavenging, anti-inflammatory and anti-apoptotic activities. This study aimed to explore the protective effects of gallic acid on LPS-induced spatial memory impairment and find the underlying mechanisms. Gallic acid was orally administered (100 mg/kg) to male Wistar rats for 12 days. LPS was injected intraperitoneally at a dose of 1 mg/kg on days 8-12. Morris water maze paradigm was used to evaluate spatial learning and memory. The mRNA level of nuclear factor kappa B (NF-κB), tumor necrosis factor-α (TNF-α) and Caspase 3, lipid peroxidation and total thiol level was assessed in the rat hippocampus. Neuronal loss and histological changes were also evaluated in the brain. LPS treatment resulted in spatial learning and memory impairment, upregulation of NF-κB, TNF-α, and Caspase 3 mRNA expression, increased lipid peroxidation, decreased total thiol level, and neuronal loss in the hippocampus. Moreover, treatment with gallic acid at a dosage of 100 mg/kg ameliorated memory decline, reduced the mRNA level of NF-κB, TNF-α, and Caspase 3, decreased lipid peroxidation and increased total thiol level in the hippocampus. Gallic acid also prevented LPS-induced neuronal loss and histological changes in the brain. Conclusively, our study demonstrated that gallic acid exerts neuroprotective effect against LPS-induced memory decline in rats. This outcome could be due to anti-inflammatory, antioxidant, and anti-apoptotic activities of gallic acid.</p>","PeriodicalId":18685,"journal":{"name":"Metabolic brain disease","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648122","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bushen Huoxue acupuncture ameliorates Alzheimer's disease by upregulating MARCHF3 to induce NLRP3 ubiquitination and inhibit caspase-1-dependent pyroptosis.","authors":"Hong Zhu, Ting Zhang, Ruomeng Li, Dan Ren, Jiangxi Xu, Lan Xiao","doi":"10.1007/s11011-024-01459-9","DOIUrl":"https://doi.org/10.1007/s11011-024-01459-9","url":null,"abstract":"<p><p>Alzheimer's disease (AD) is a common neurodegenerative disorder that places a heavy burden on patients and society. Hippocampal neuronal loss is a hallmark of AD progression. Therefore, understanding the mechanism underlying hippocampal neuronal death would be of great importance for the diagnosis and treatment of AD. This study aimed to explore the molecular mechanism via which Bushen Huoxue Acupuncture inhibits hippocampal neuronal pyroptosis in AD. Senescence-accelerated mouse prone 8 (SAMP8) mice were used as a model of AD. Bushen Huoxue Acupuncture was performed in four acupoints: \"Baihui acupoint\" (GV20), \"Shenshu acupoint\" (BL23), \"Xuehai acupoint\" (SP10), and \"Geshu acupoint\" (BL17). Morris water maze was used to test cognitive function in mice. IHC staining was used to test mice's Aβ1-42, MARCHF1 and MARCHF3 expression. Terminal deoxynucleotidyl transferase mediated dUTP nick end labeling (TUNEL) staining was used for observing hippocampal neuronal apoptosis. The mRNA expression levels of pyroptosis markers MARCHF1, MARCHF3, NLRP3, caspase-1, GSDMD, IL-1β, and IL-18 mRNA in AD mice were determined by quantitative reverse transcription polymerase chain reaction (qRT-PCR). The protein expression of NLRP3, caspase-1 and GSDMD-N was tested by Western blotting. IL-1β and IL-18 protein levels were measured by Enzyme-Linked Immunosorbent Assay (ELISA). SH-SY5Y cells were used to establish an AD model following Aβ_1-42 treatment. Western blot was used to detect the NLRP3, MARCHF1 and MARCHF3 proteins following Aβ_1-42 treatment. The endogenous Co-IP assay in combination with immunoblotting for ubiquitin signals was used to detect of NLRP3 ubiquitination level. We found that Bushen Huoxue Acupuncture protected cognitive impairment in AD mice. Bushen Huoxue Acupuncture inhibited hippocampal neuronal pyroptosis and the secretion of inflammatory cytokines in vivo. In SH-SY5Y cells, we found that Aβ_1-42 decreased the binding of E3 ubiquitin-protein ligase MARCHF1 or MARCHF3 with NLRP3, and the ubiquitination of NLRP3. In conclusion, Bushen Huoxue Acupuncture ameliorates AD by upregulating MARCHF3 to induce NLRP3 ubiquitination and inhibits caspase-1-dependent pyroptosis.</p>","PeriodicalId":18685,"journal":{"name":"Metabolic brain disease","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648094","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The neuroprotective effects of progesterone against peripheral neuropathy: a systematic review of non-clinical studies.","authors":"Hamed Haghi-Aminjan, Mahsa Kouhestani, Asieh Hosseini","doi":"10.1007/s11011-024-01480-y","DOIUrl":"https://doi.org/10.1007/s11011-024-01480-y","url":null,"abstract":"<p><p>Peripheral neuropathy (PN) is one of the most common disorders characterized by the dysfunction or degeneration of peripheral nerves and has many different causes. PN often causes weakness, numbness, and pain, usually in the hands and feet, which can cause physical disability and a reduced quality of life. The purpose of this study was to conduct a review of the potential neuroprotective properties of progesterone against PN. A comprehensive systematic search was performed in many electronic databases (Scopus, PubMed, and Web of Science) until January 2024, following the PRISMA principles. A total of 72 studies underwent screening based on predetermined criteria for inclusion and exclusion. Ultimately, the present systematic review comprised 18 publications that satisfied the inclusion criteria. The data indicate that progesterone medication decreases PN by inhibiting the biochemical and morphological abnormalities caused by aging, diabetes, chemotherapy, and physical injury to peripheral nerves. However, as compared to the PN groups alone, progesterone treatment demonstrated tendencies towards being anti-oxidant, anti-inflammatory, anti-nociceptive, and neurodegenerative. Other studies have shown that PN also induces substantial biochemical changes in neuronal cells and tissues. Furthermore, we observed histological changes in the peripheral nerve tissue after PN. Overall, progesterone administration reversed these biochemical and histological alterations induced by PN in the vast majority of instances. Notably, the PN is ameliorated through progesterone administration. Progesterone achieves these neuroprotective effects through the inhibition of multiple mechanisms that are implicated in PN.</p>","PeriodicalId":18685,"journal":{"name":"Metabolic brain disease","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648154","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Integrated systems pharmacology, molecular docking, and MD simulations investigation elucidating the therapeutic mechanisms of BHD in Alzheimer's disease treatment.","authors":"Mayank Roy Chowdhury, Karamveer Karamveer, Basant K Tiwary, Navaneeth K Nampoothiri, Rajeswara Reddy Erva, Vijaykumar Sudarshana Deepa","doi":"10.1007/s11011-024-01460-2","DOIUrl":"https://doi.org/10.1007/s11011-024-01460-2","url":null,"abstract":"<p><p>Alzheimer's disease (AD) poses a longstanding health challenge, prompting a century-long exploration into its etiology and progression. Despite significant advancements in medical science, current AD treatments provide only symptomatic relief, urging a shift towards innovative paradigms. This study, departing from the amyloid hypothesis, integrates Systems Pharmacology, Molecular Docking and Molecular Dynamic Simulations to investigate a polyherbal phytoformulation (US 7,273,626 B2) rooted in Ayurveda for AD, consisting of Bacopa monnieri, Hippophae rhamnoides, and Dioscorea bulbifera (BHD). Diosgenin emerges as a crucial compound, aligning with previous studies, yet recognizing its limitations in explaining BHD's mechanism, this research delves into the intricate network of interactions. Protein-Protein Interaction (PPI) network analysis identifies hub genes (ALOX5, GSK3B, ACHE, SRC, AKT1, EGFR, PIK3R1, ESR1 and APP), suggesting a systems-level modulation of AD. Enrichment analyses unveil 370 AD-associated genes and key terms like \"Cellular Response to Chemical Stimulus\" and \"Regulation of Biological Quality.\" KEGG pathway analysis underscores BHD's potential in Alzheimer's disease pathway (hsa05010), Endocrine resistance (hsa01522), and PI3K-Akt signaling (hsa04151). Molecular docking, carefully selecting compounds (Kaempferol, Quercetin, Myricetin, Isorhamnetin, Beta-Sitosterol, Stigmasterol, Emodin and Diosgenin) and top modulated targets, validates interactions with high dock scores, providing promising therapeutic avenues. Two core targets, Acetylcholinesterase (AChE) and Estrogen Receptor 1 (ESR1), were identified for further investigation due to their critical roles in Alzheimer's disease. To validate the molecular docking results, Molecular Dynamics (MD) simulations were performed on the AChE complexes with Myricetin, Beta-Sitosterol, and Stigmasterol, as well as the ESR1 complexes with Emodin, Diosgenin, and Beta-Sitosterol. These simulations were then compared to the interactions observed with the marketed drugs Donepezil and Estradiol, which are commonly used in Alzheimer's treatment. The MD simulations provided detailed insights into the stability and behavior of these complexes over time. The findings indicated that Myricetin and Emodin not only maintained stable interactions with AChE and ESR1 but also exhibited greater stability than Donepezil and Estradiol at specific time points and protein regions, as demonstrated by lower RMSD and RMSF values. These results suggest that natural compounds hold promise as potential therapeutic agents in the treatment of Alzheimer's disease, offering new avenues for drug development, while the formulation BHD shows potential as an adjuvant in integrative medicine alongside standard Alzheimer's treatments, effectively targeting related pathways and genes.</p>","PeriodicalId":18685,"journal":{"name":"Metabolic brain disease","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648125","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diacerein ameliorates thioacetamide-induced hepatic encephalopathy in rats via modulation of TLR4/AQP4/MMP-9 axis.","authors":"Nesma A Abd Elrazik, Al Shaima G Abd El Salam","doi":"10.1007/s11011-024-01457-x","DOIUrl":"https://doi.org/10.1007/s11011-024-01457-x","url":null,"abstract":"<p><p>Astrocyte swelling, blood brain barrier (BBB) dissipation and the subsequent brain edema are serious consequences of persistent hyperammonemia in hepatic encephalopathy (HE) in which if inadequately controlled it will lead to brain death. The current study highlights the potential neuroprotective effect of diacerein against thioacetamide (TAA)-induced HE in acute liver failure rat model. HE was induced in male Sprague-Dawley rats via I.P. injection of TAA (200 mg/kg) for three alternative times/week at 3^rd week of the experiment. Diacerein (50 mg/kg) was gavaged for 14 days prior to induction of HE and for further 7 days together with TAA injection for an overall period of 21 days. Diacerein attenuated TAA-induced HE in acute liver failure rat model; as proofed by significant lowering of serum and brain ammonia concentrations, serum AST and ALT activities and significant attenuation of both brain and hepatic MDA contents and IL-1β with marked increases in GSH contents (P < 0.0001). The neuroprotective effect of diacerein was demonstrated by marked improvement of motor and cognitive deficits, brain histopathological changes; hallmarks of HE. As shown by immunohistochemical results, diacerein markedly downregulated brain TLR4 expression which in turn significantly increased the GFAP expression, and significantly decreased AQP4 expression; the astrocytes swelling biomarkers (P < 0.0001). Moreover, diacerein preserved BBB integrity via downregulation of MMP-9 mediated digestion of tight junction proteins such as occludin (P < 0.0001). Collectively, diacerein ameliorated cerebral edema and maintained BBB integrity via modulation of TLR4/AQP4/MMP-9 axis thus may decrease the progression of HE induced in acute liver failure.</p>","PeriodicalId":18685,"journal":{"name":"Metabolic brain disease","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648146","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Untargeted metabolomics to detect and identify plasma metabolic signatures associated with intracranial aneurysm and its rupture.","authors":"Siming Gui, Jia Jiang, Dingwei Deng, Dachao Wei, Xiheng Chen, Yudi Tang, Jian Lv, Wei You, Ting Chen, Yang Zhao, Hengwei Jin, Xinke Liu, Huijian Ge, Peng Liu, Yuhua Jiang, Youxiang Li","doi":"10.1007/s11011-024-01481-x","DOIUrl":"https://doi.org/10.1007/s11011-024-01481-x","url":null,"abstract":"<p><p>The biological basis for metabolic differences between unruptured and ruptured intracranial aneurysm (UIA and RIA) populations and their potential role in triggering IA rupture remain unclear. The aim of this study was to analyze the plasma metabolic profiles of patients with UIA and RIA using an untargeted metabolomic approach and to develop a model for early rupture classification. Plasma samples were analyzed using an ultra-high-performance liquid chromatography high-resolution tandem mass spectrometry-based platform. Least absolute shrinkage and selection operator regression and random forest machine learning methods were employed for metabolite feature selection and predictive model construction. Among 49 differential plasma metabolites identified, 31 were increased and 18 were decreased in the plasma of RIA patients. Five key metabolites-canrenone, piperine, 1-methyladenosine, betaine, and trigonelline-were identified as having strong potential to discriminate between UIA and RIA patients. This combination of metabolites demonstrated high diagnostic accuracy, with an area under the curve exceeding 0.95 in both the training and validation datasets. Our finding highlights the significance of plasma metabolites as potential biomarkers for early detection of IA rupture risk, offering new insights for clinical practice and future research on IA management.</p>","PeriodicalId":18685,"journal":{"name":"Metabolic brain disease","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142644093","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurodegenerative biomarkers and inflammation in patients with propionic and methylmalonic acidemias: effect of L-carnitine treatment.","authors":"Bianca Gomes Dos Reis, Graziela Schmitt Becker, Desirèe Padilha Marchetti, Daniella de Moura Coelho, Angela Sitta, Moacir Wajner, Carmen Regla Vargas","doi":"10.1007/s11011-024-01475-9","DOIUrl":"https://doi.org/10.1007/s11011-024-01475-9","url":null,"abstract":"<p><p>Propionic and methylmalonic acidemias (PAcidemia and MMAcidemia, respectively) are genetic disorders characterized by acute metabolic decompensation and neurological complications. L-carnitine (LC) is effective in reducing toxic metabolites that are related to the pathophysiology of these diseases. Therefore we investigated biomarkers of inflammation (cytokines and C-reactive protein (CRP)), neurodegeneration (BDNF, NCAM-1 and cathepsin-D) and biomolecules oxidation (sulfhydryl content and thiobarbituric acid-reactive species (TBARS)), as well as carnitine concentrations in untreated patients with PAcidemia and MMAcidemia, in patients under treatment with LC and a protein-restricted diet for until 2 years and in patients under the same treatment for more than 2 years. It was verified an increase of CRP, IL-6, IL-8, TNF-α, IL-10, NCAM-1 and cathepsin-D in untreated patients compared to controls. On the other hand, reduced levels of TNF-α, CRP, IL-10, NCAM-1 and cathepsin-D were found in plasma from treated patients, as well as increased concentrations of LC. Furthermore, oxidative biomarkers were increased in untreated patients and were normalized with the prolonged treatment with LC. In conclusion, this work shows, for the first time, that inflammatory and neurodegenerative peripheral biomarkers are increased in patients with PAcidemia and MMAcidemia and that treatment with LC is effective to protect against these alterations.</p>","PeriodicalId":18685,"journal":{"name":"Metabolic brain disease","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142644074","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Depression, stress, and tryptophan metabolism through the kynurenine pathway: treatment strategies from the perspective of Chinese herbal medicine.","authors":"Wen Li, Lili Yang, Haozhi Chen, Jia Miao, Yutong Wang, Changlin Zhou, Yanqi Chen, Ziyang Kong, Chengyue Shen, Jiafei Wu, Jinyi Li, Luoying Zhu, Zhengjun Li, Yaoyao Bian","doi":"10.1007/s11011-024-01461-1","DOIUrl":"https://doi.org/10.1007/s11011-024-01461-1","url":null,"abstract":"<p><p>The pathogenesis of depression is complex, involving abnormalities in tryptophan (TRP) metabolism through the kynurenine pathway (KP). Moreover, depression is closely related to the hypothalamic-pituitary-adrenal (HPA) axis, the gut-brain axis, neuroinflammation, and stress. These factors collectively influence the multidimensional pathological mechanisms of depression. TRP, a fundamental amino acid, serves as a precursor for neuroactive metabolites vital to physiological functions. Central to TRP metabolism is the KP, and the imbalance between neurotoxic and neuroprotective metabolites is closely related to the onset and progression of depression. Therefore, maintaining the balance of KP metabolites is important. In this review, we have investigated the role of the KP in depression and explored the complexity of KP dysregulation and its therapeutic importance. Here, we highlight how a deeper understanding of the KP and its regulation can pave the way for new treatment strategies. Specifically, we have summarized the latest advances in elucidating the key mechanisms of rate-limiting enzyme inhibitors, providing insights into their potential therapeutic efficacy. In addition, we have explored the emerging field of Chinese herbal medicine, discussing its potential to regulate KP metabolites and alleviate depressive symptoms, thereby expanding the treatment options for depression. Our findings emphasize the multifaceted nature of depression and the necessity of interdisciplinary research to fully utilize KP regulation and Chinese herbal medicine as strategies to advance the treatment of depression.</p>","PeriodicalId":18685,"journal":{"name":"Metabolic brain disease","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142639194","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dynamic changes in the hippocampal memory index and biochemical indices in Sprague Dawley rats exposed to intrauterine kola nut.","authors":"Foluso A Atiba, Pilani Nkomozepi, Felix E Mbajiorgu, Amadi O Ihunwo","doi":"10.1007/s11011-024-01423-7","DOIUrl":"10.1007/s11011-024-01423-7","url":null,"abstract":"<p><p>Kola nut is commonly consumed by pregnant women to suppress symptoms of morning sickness. This study investigated the effects of kola nut on the biochemical indices of the hippocampus and its dependent memory. Kola nut extract was fed to pregnant dams from the first day of their pregnancy until parturition. The following behavioral function tests were conducted: surface righting (SR); cliff avoidance (post-natal day [PND] 4, 5, 6 & 7); open field; novel object recognition and location; and radial-arm maze (PND 21 and 56). The levels of brain-derived neurotrophic factor (BDNF), acetylcholine (ACh), and malondialdehyde (MDA) of the matched hippocampal tissues were also checked in the pups. The kola nut-treated pups showed significantly reduced behavioral indices compared to the pups in the control group: lower postural balance, higher risk avoidance memory, and lower frequency in pivoting and rearing compared to that in the control group. However, the frequency of urine and fecal bolus was significantly lower in the pups in the control group than that in the treated pups. The discrimination ratio of the control group pups in novel object recognition (NOR) and novel object location (NOL) was significantly higher than that in the treated pups, and the time taken by the treated pups to complete RAM was significantly higher. The levels of ACh and BDNF in the treated pups were increased compared to that in control pups. A positive correlation was found between MDA and SR (r = 0.7207; p = 0.0437), grooming (r = 0.7707; p = 0.0252), and fecal bolus (r = 0.7606; p = 0.0284), as well as with the BDNF level in those treated with grooming (r = 0.7570; p = 0.0297). However, negative correlations between ACh and rearing (r = -0.8261; p = 0.0115) and fecal bolus (r = -0.8066; p = 0.0156) and a positive correlation with NOL (r = 0.8358; p = 0.0098) were observed. Based on these observations, the study concluded that Kola nut affects both biochemical and hippocampal memory profiles.</p>","PeriodicalId":18685,"journal":{"name":"Metabolic brain disease","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11568036/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142639257","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Individuals with SATB2-associated syndrome have impaired vitamin and energy metabolism pathways.","authors":"Roberto Collu, Yuri A Zarate, Weiming Xia, Jennifer L Fish","doi":"10.1007/s11011-024-01465-x","DOIUrl":"https://doi.org/10.1007/s11011-024-01465-x","url":null,"abstract":"<p><p>Special AT-rich sequence-binding protein 2 (SATB2) is a master regulator of gene expression. Mutations of the SATB2 gene results in the SATB2-associated syndrome (SAS), a genetic disorder characterized by neurodevelopmental disabilities and autism-related phenotype. The importance of plasma as an indicator of SAS phenotypes is unknown. We aim to investigate if pathogenic variants in SATB2 are associated with alteration to relevant pathways in the plasma of SAS patients and identify key differentially regulated proteins which may serve as biomarkers to improve diagnostic and future pharmacological approaches. We used well-validated proteomic technologies to determine the proteomic profile of plasma from SAS patients compared to healthy control subjects. Bioinformatical analysis was performed to identify significant proteins and functionally enriched pathways. We identified differentially expressed proteins in the plasma of SAS patients that are significantly involved in metabolism-related pathways. Energy metabolism, glucose metabolism and vitamin metabolism pathways are significantly enriched in SAS patients as compared to healthy controls. Our study linked SATB2 mutations to the impairment of plasma proteins involved in different metabolic pathways in SAS patients.</p>","PeriodicalId":18685,"journal":{"name":"Metabolic brain disease","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142622742","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}