Journal of Molecular Neuroscience最新文献_第3页

Role and Interplay of Different Signaling Pathways Involved in Sciatic Nerve Regeneration 参与坐骨神经再生的不同信号通路的作用和相互作用

IF 2.8 4区医学

Journal of Molecular Neuroscience Pub Date : 2024-11-12 DOI: 10.1007/s12031-024-02286-4

Saeedeh Zare Jalise, Sina Habibi, Leyla Fath-Bayati, Mohammad Amin Habibi, Shima Ababzadeh, Faezeh Hosseinzadeh

{"title":"Role and Interplay of Different Signaling Pathways Involved in Sciatic Nerve Regeneration","authors":"Saeedeh Zare Jalise, Sina Habibi, Leyla Fath-Bayati, Mohammad Amin Habibi, Shima Ababzadeh, Faezeh Hosseinzadeh","doi":"10.1007/s12031-024-02286-4","DOIUrl":"10.1007/s12031-024-02286-4","url":null,"abstract":"<div><p>Regeneration of the sciatic nerve is a sophisticated process that involves the interplay of several signaling pathways that orchestrate the cellular responses critical to regeneration. Among the key pathways are the mitogen-activated protein kinase (MAPK), phosphatidylinositol 3-kinase (PI3K)/AKT, cyclic adenosine monophosphate (cAMP), and Janus kinase/signal transducers and transcription activators (JAK/STAT) pathways. In particular, the cAMP pathway modulates neuronal survival and axonal regrowth. It influences various cellular behaviors and gene expression that are essential for nerve regeneration. MAPK is indispensable for Schwann cell differentiation and myelination, whereas PI3K/AKT is integral to the transcription, translation, and cell survival processes that are vital for nerve regeneration. Furthermore, GTP-binding proteins, including those of the Ras homolog gene family (Rho), regulate neural cell adhesion, migration, and survival. Notch signaling also appears to be effective in the early stages of nerve regeneration and in preventing skeletal muscle fibrosis after injury. Understanding the intricate mechanisms and interactions of these pathways is vital for the development of effective therapeutic strategies for sciatic nerve injuries. This review underscores the need for further research to fill existing knowledge gaps and improve therapeutic outcomes.</p><h3>Graphical Abstract</h3><div><figure><div><div><picture><source><img></source></picture></div></div></figure></div></div>","PeriodicalId":652,"journal":{"name":"Journal of Molecular Neuroscience","volume":"74 4","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142600644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Mitophagy Unveiled: Exploring the Nexus of Mitochondrial Health and Neuroendocrinopathy 揭开线粒体吞噬的神秘面纱探索线粒体健康与神经内分泌病变的联系

IF 2.8 4区医学

Journal of Molecular Neuroscience Pub Date : 2024-11-08 DOI: 10.1007/s12031-024-02280-w

Mega Obukohwo Oyovwi, Emeka Williams Ugwuishi, Onoriode Andrew Udi, Gregory Joseph Uchechukwu

{"title":"Mitophagy Unveiled: Exploring the Nexus of Mitochondrial Health and Neuroendocrinopathy","authors":"Mega Obukohwo Oyovwi, Emeka Williams Ugwuishi, Onoriode Andrew Udi, Gregory Joseph Uchechukwu","doi":"10.1007/s12031-024-02280-w","DOIUrl":"10.1007/s12031-024-02280-w","url":null,"abstract":"<div><p>Mitochondria play a pivotal role in cellular metabolism, energy production, and apoptotic signaling, making mitophagy, the selective degradation of damaged mitochondria, crucial for mitochondrial health. Dysregulation of mitophagy has been implicated in various neuroendocrinopathies, yet the mechanisms linking these processes remain poorly understood. This review aims to explore the intersection between mitophagy and neuroendocrinopathy, addressing the critical gaps in knowledge regarding how mitochondrial dysfunction may contribute to the pathophysiology of neuroendocrine disorders. We conducted a comprehensive literature review of studies published on mitophagy and neuroendocrinopathies, focusing on data that elucidate the pathways involved and the clinical implications of mitochondrial health in neuroendocrine contexts. Our findings indicate that altered mitophagy may lead to the accumulation of dysfunctional mitochondria, contributing to neuroendocrine dysregulation. We present evidence linking impaired mitochondrial clearance to disease models of conditions such as metabolic syndrome, depression, and stress-related disorders, highlighting the potential for therapeutic interventions targeting mitophagy. While significant advances have been made in understanding mitochondrial biology, the direct interplay between mitophagy and neuroendocrinopathies remains underexplored. This review underscores the necessity for further research to elucidate these connections, which may offer novel insights into disease mechanisms and therapeutic strategies for treating maladaptive neuroendocrine responses.</p></div>","PeriodicalId":652,"journal":{"name":"Journal of Molecular Neuroscience","volume":"74 4","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142596088","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Antisecretory Factor 16 (AF16): A Promising Avenue for the Treatment of Traumatic Brain Injury—An In Vitro Model Approach 抗分泌因子 16 (AF16)：治疗创伤性脑损伤的希望之路--一种体外模型方法。

IF 2.8 4区医学

Journal of Molecular Neuroscience Pub Date : 2024-11-07 DOI: 10.1007/s12031-024-02268-6

Nicola Vahrmeijer, Jurgen Kriel, Bradley M. Harrington, Anton Du Preez van Staden, Adriaan Johannes Vlok, Lize Engelbrecht, Andre Du Toit, Ben Loos

{"title":"Antisecretory Factor 16 (AF16): A Promising Avenue for the Treatment of Traumatic Brain Injury—An In Vitro Model Approach","authors":"Nicola Vahrmeijer, Jurgen Kriel, Bradley M. Harrington, Anton Du Preez van Staden, Adriaan Johannes Vlok, Lize Engelbrecht, Andre Du Toit, Ben Loos","doi":"10.1007/s12031-024-02268-6","DOIUrl":"10.1007/s12031-024-02268-6","url":null,"abstract":"<div><p>Traumatic brain injury (TBI) is caused by an external mechanical force to the head, resulting in abnormal brain functioning and clinical manifestations. Antisecretory factor (AF16) is a potential therapeutic agent for TBI treatment due to its ability to inhibit fluid secretion and decrease inflammation, intracranial pressure, and interstitial fluid build-up, key hallmarks presented in TBI. Here, we investigated the effect of AF16 in an in vitro model of neuronal injury, as well as its impact on key components of the autophagy pathway and mitochondrial dynamics. N2A<sup>wt</sup> cells were treated with AF16, injured using a scratch assay, and analysed using confocal microscopy, correlative light and electron microscopy (CLEM), flow cytometry, and western blotting. Our results reveal that AF16 enhances autophagy activity, regulates mitochondrial dynamics, and provides protection as early as 6 h post-injury. Fluorescently labelled AF16 was observed to localise to lysosomes and the autophagy compartment, suggesting a role for autophagy and mitochondrial quality control in conferring AF16-associated neuronal protection. This study concludes that AF16 has potential as a therapeutic agent for TBI treatment through is regulation of autophagy and mitochondrial dynamics.</p></div>","PeriodicalId":652,"journal":{"name":"Journal of Molecular Neuroscience","volume":"74 4","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://link.springer.com/content/pdf/10.1007/s12031-024-02268-6.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142589350","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Sex Differences in Blood Accumulation of Neurodegenerative-Related Proteins and Antioxidant Responses to Regular Physical Exercise 血液中神经退行性病变相关蛋白的积累和定期体育锻炼抗氧化反应的性别差异

IF 2.8 4区医学

Journal of Molecular Neuroscience Pub Date : 2024-11-05 DOI: 10.1007/s12031-024-02278-4

Elisa Chelucci, Giorgia Scarfò, Rebecca Piccarducci, Antonio Rizza, Jonathan Fusi, Francesco Epifani, Sara Carpi, Beatrice Polini, Laura Betti, Barbara Costa, Sabrina Taliani, Vito Cela, Paolo Artini, Simona Daniele, Claudia Martini, Ferdinando Franzoni

{"title":"Sex Differences in Blood Accumulation of Neurodegenerative-Related Proteins and Antioxidant Responses to Regular Physical Exercise","authors":"Elisa Chelucci, Giorgia Scarfò, Rebecca Piccarducci, Antonio Rizza, Jonathan Fusi, Francesco Epifani, Sara Carpi, Beatrice Polini, Laura Betti, Barbara Costa, Sabrina Taliani, Vito Cela, Paolo Artini, Simona Daniele, Claudia Martini, Ferdinando Franzoni","doi":"10.1007/s12031-024-02278-4","DOIUrl":"10.1007/s12031-024-02278-4","url":null,"abstract":"<div><p>Physical activity has been demonstrated to improve cognitive function, thereby preventing/slowing neurodegenerative diseases (NDs). Biological responses to physical activity and vulnerabilities to NDs are emerging to be gender-related. Herein, known ND-associated markers (β-amyloid, tau, α-synuclein), main sex steroid hormones, antioxidant responses, and key gene transcription modulators were evaluated in the blood of physically active and sedentary women and men. In our hands, females presented higher basal erythrocytes β-amyloid and α-synuclein amounts than males. Regular physical activity was able to significantly reduce the erythrocyte content of β-amyloid in females and the tau levels in males, suggesting that these differences may be mediated by organizational actions of sex steroid hormones during development. Furthermore, despite a comparable plasma antioxidant capability (AOC) between males and females, in the latter group, physical activity significantly enhances AOC versus peroxynitrite radicals only. Finally, regular physical activity modulated the levels of transcription factor Nrf2 in erythrocytes, as well as the plasma concentration of the microRNA miR-195 and miR-153, suggesting the promotion of antioxidant/autophagic processes associated with ND-related proteins. Overall, these results could shed light on how cerebral adaptations to physical activity differ between males and females, especially with regard to blood accumulation of ND proteins and mechanisms of antioxidant responses to regular exercise.</p></div>","PeriodicalId":652,"journal":{"name":"Journal of Molecular Neuroscience","volume":"74 4","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://link.springer.com/content/pdf/10.1007/s12031-024-02278-4.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142574828","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Ketogenic Diet Affects Gut Microbiota by Regulating Gut Microbiota and Promoting Hippocampal TRHR Expression to Combat Seizures 生酮饮食通过调节肠道微生物群和促进海马 TRHR 表达来影响肠道微生物群，从而对抗癫痫发作。

IF 2.8 4区医学

Journal of Molecular Neuroscience Pub Date : 2024-11-03 DOI: 10.1007/s12031-024-02245-z

Wenting Xiong, Xiaohui Lin, Xin Lin, Luyan Wu, Wanhui Lin

{"title":"A Ketogenic Diet Affects Gut Microbiota by Regulating Gut Microbiota and Promoting Hippocampal TRHR Expression to Combat Seizures","authors":"Wenting Xiong, Xiaohui Lin, Xin Lin, Luyan Wu, Wanhui Lin","doi":"10.1007/s12031-024-02245-z","DOIUrl":"10.1007/s12031-024-02245-z","url":null,"abstract":"<div><p>With the persistent challenge that epilepsy presents to therapeutic avenues, the study seeks to decipher the effects of the ketogenic diet (KD) on gut microbiota and subsequent epileptic outcomes. Mouse fecal samples from distinct KD and control diet (CD) cohorts underwent 16S rRNA sequencing. Differential genes of epileptic mice under these diets were sourced from the GEO database. The study melded in vivo and in vitro techniques to explore the nuanced interactions between KD, gut microbiota, and hippocampal TRHR dynamics. The KD regimen was found to result in a notable reduction in gut microbiota diversity when compared to the CD groups. Distinctive microbial strains, which are hypothesised to interact with epilepsy through G protein-coupled receptors, were spotlighted. In vivo, explorations affirmed that gut microbiota as central to KD’s anti-epileptic efficacy. Of 211 distinguished genes, the neuroactive ligand-receptor interaction pathway was underscored, particularly emphasizing TRHR and TRH. Clinical observations revealed a surge in hippocampal TRHR and TRH expressions influenced by KD, mirroring shifts in neuronal discharges. The KD, leveraging gut microbiota alterations, amplifies hippocampal TRHR expression. This finding provides a novel intervention strategy to reduce seizures.</p></div>","PeriodicalId":652,"journal":{"name":"Journal of Molecular Neuroscience","volume":"74 4","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142567164","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Deficiency of the ASD-Related Gene CHD8 Disrupts Behavioral Patterns and Inhibits Hippocampal Neurogenesis in Mice ASD 相关基因 CHD8 的缺失会扰乱小鼠的行为模式并抑制海马神经元的形成。

IF 2.8 4区医学

Journal of Molecular Neuroscience Pub Date : 2024-10-31 DOI: 10.1007/s12031-024-02283-7

Xiaojie Niu, Feifei Huang, Haizhen Lyu, Jiao Liu, Xinwei Zhang, Jiang Bian, Zhijie Gao, Binyu Liu

{"title":"The Deficiency of the ASD-Related Gene CHD8 Disrupts Behavioral Patterns and Inhibits Hippocampal Neurogenesis in Mice","authors":"Xiaojie Niu, Feifei Huang, Haizhen Lyu, Jiao Liu, Xinwei Zhang, Jiang Bian, Zhijie Gao, Binyu Liu","doi":"10.1007/s12031-024-02283-7","DOIUrl":"10.1007/s12031-024-02283-7","url":null,"abstract":"<div><p>Chromodomain helicase DNA-binding 8 (CHD8) is a gene that poses a high risk for autism spectrum disorder (ASD) and neurological development delay. Nevertheless, the impact of CHD8 haploinsufficiency on both hippocampus neurogenesis and behavior remains uncertain. Here, we performed behavioral assessments on male and female CHD8 heterozygous mice. The study discovered that both male and female CHD8 heterozygous mice displayed an impairment in preference for social novelty. Concurrently, CHD8 heterozygous mice exhibited anxiety-like behavior. However, its cognitive capacity for learning and memory is within the expected range. Furthermore, we discovered a reduction in the number of both immature and mature new neurons in mice with CHD8 heterozygous, resulting in an impeded neurogenesis process in the hippocampus. Taken together, our findings indicate that CHD8 plays a crucial role in the regulation of hippocampal neurogenesis, and further suggest that ASD-like behaviors observed in CHD8 heterozygous mice may be associated with disruptions in hippocampal neurogenesis.</p></div>","PeriodicalId":652,"journal":{"name":"Journal of Molecular Neuroscience","volume":"74 4","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142556864","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Role of Non-Coding RNAs in Mitochondrial Dysfunction of Alzheimer’s Disease 非编码 RNA 在阿尔茨海默病线粒体功能障碍中的作用

IF 2.8 4区医学

Journal of Molecular Neuroscience Pub Date : 2024-10-28 DOI: 10.1007/s12031-024-02262-y

Samin Abed, Amir Ebrahimi, Fatemeh Fattahi, Ghazal Kouchakali, Mahmoud Shekari-Khaniani, Sima Mansoori-Derakhshan

{"title":"The Role of Non-Coding RNAs in Mitochondrial Dysfunction of Alzheimer’s Disease","authors":"Samin Abed, Amir Ebrahimi, Fatemeh Fattahi, Ghazal Kouchakali, Mahmoud Shekari-Khaniani, Sima Mansoori-Derakhshan","doi":"10.1007/s12031-024-02262-y","DOIUrl":"10.1007/s12031-024-02262-y","url":null,"abstract":"<div><p>Although brain amyloid-β (Aβ) peptide buildup is the main cause of Alzheimer’s disease (AD), mitochondrial abnormalities can also contribute to the illness’s development, as either a primary or secondary factor, as programmed cell death and efficient energy generation depend on the proper operation of mitochondria. As a result, non-coding RNAs (ncRNAs) may play a crucial role in ensuring that nuclear genes related to mitochondria and mitochondrial genes function normally. Interestingly, a significant number of recent studies have focused on the impact of ncRNAs on the expression of nucleus and mitochondrial genes. Additionally, researchers have proposed some intriguing therapeutic approaches to treat and reduce the severity of AD by adjusting the levels of these ncRNAs. The goal of this work was to consolidate the existing knowledge in this field of study by systematically investigating ncRNAs, with a particular emphasis on microRNAs (miRNAs), long non-coding RNAs (lncRNAs), circular RNAs (circRNAs), and small nucleolar RNAs (snoRNAs). Therefore, the impact and processes by which ncRNAs govern mitochondrial activity in the onset and progression of AD are thoroughly reviewed in this article. Collectively, the effects of ncRNAs on physiological and molecular mechanisms associated with mitochondrial abnormalities that exacerbate AD are thoroughly reviewed in the current research, while also emphasizing the relationship between disturbed mitophagy in AD and ncRNAs.</p></div>","PeriodicalId":652,"journal":{"name":"Journal of Molecular Neuroscience","volume":"74 4","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://link.springer.com/content/pdf/10.1007/s12031-024-02262-y.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142518843","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Molecular and Clinical Characterization of a Cohort of Autosomal Recessive Sensorineural Hearing Loss in Egyptian Patients 一组埃及常染色体隐性感音神经性听力损失患者的分子和临床特征。

IF 2.8 4区医学

Journal of Molecular Neuroscience Pub Date : 2024-10-28 DOI: 10.1007/s12031-024-02279-3

Mohammed M. Sayed-Ahmed, Hala T. El-Bassyouni, Hanan H. Afifi, Mona L. Essawi, Mohamed B. Taher, Mohamed I. Gadelhak, Rehab A. Zaytoun, Ahmed A. Abdelmonem, Nagham M. Elbagoury

{"title":"Molecular and Clinical Characterization of a Cohort of Autosomal Recessive Sensorineural Hearing Loss in Egyptian Patients","authors":"Mohammed M. Sayed-Ahmed, Hala T. El-Bassyouni, Hanan H. Afifi, Mona L. Essawi, Mohamed B. Taher, Mohamed I. Gadelhak, Rehab A. Zaytoun, Ahmed A. Abdelmonem, Nagham M. Elbagoury","doi":"10.1007/s12031-024-02279-3","DOIUrl":"10.1007/s12031-024-02279-3","url":null,"abstract":"<div><p>Hearing loss (HL) is one of the most common health problems worldwide. Autosomal recessive non-syndromic sensorineural hearing loss (ARNSHL) represents a large portion of congenital hereditary HL. Our study was conducted on 13 patients from 13 unrelated families. The majority of patients presented with congenital severe to profound bilateral sensorineural HL. All patients were subjected to detailed family history and three-generation pedigree analysis to exclude any environmental cause and to ensure an autosomal recessive mode of inheritance. Molecular analysis was performed using the whole exome sequencing (WES) technique for the recruited patients. Three variants in the <i>MYO7A</i> and <i>OTOF</i> genes were reported for the first time in patients with ARNSHL (one nonsense, one frameshift, and one splice variant). Ten previously reported variants were detected in seven genes (<i>GJB2</i>, <i>MYO15A</i>, <i>BSND</i>, <i>OTOF</i>, <i>CDH23</i>, <i>SLC26A4</i>, and <i>TMIE</i>). They varied between missense, nonsense, frameshift, and splice variants. This study expands the molecular spectrum of two types of autosomal recessive deafness (types 2 and 9).</p></div>","PeriodicalId":652,"journal":{"name":"Journal of Molecular Neuroscience","volume":"74 4","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://link.springer.com/content/pdf/10.1007/s12031-024-02279-3.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142520611","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Signaling Pathways Concerning Mitochondrial Dysfunction: Implications in Neurodegeneration and Possible Molecular Targets 与线粒体功能障碍有关的信号通路：神经退行性变的影响和可能的分子靶标

IF 2.8 4区医学

Journal of Molecular Neuroscience Pub Date : 2024-10-28 DOI: 10.1007/s12031-024-02269-5

Yati Sharma, Jeetendra Kumar Gupta, M. Arockia Babu, Sumitra Singh, Rakesh K. Sindhu

{"title":"Signaling Pathways Concerning Mitochondrial Dysfunction: Implications in Neurodegeneration and Possible Molecular Targets","authors":"Yati Sharma, Jeetendra Kumar Gupta, M. Arockia Babu, Sumitra Singh, Rakesh K. Sindhu","doi":"10.1007/s12031-024-02269-5","DOIUrl":"10.1007/s12031-024-02269-5","url":null,"abstract":"<div><p>Mitochondrion is an important organelle present in our cells responsible for meeting energy requirements. All higher organisms rely on efficient mitochondrial bioenergetic machinery to sustain life. No other respiratory process can produce as much power as generated by mitochondria in the form of ATPs. This review is written in order to get an insight into the magnificent working of mitochondrion and its implications in cellular homeostasis, bioenergetics, redox, calcium signaling, and cell death. However, if this machinery gets faulty, it may lead to several disease states. Mitochondrial dysfunctioning is of growing concern today as it is seen in the pathogenesis of several diseases which includes neurodegenerative disorders, cardiovascular disorders, diabetes mellitus, skeletal muscle defects, liver diseases, and so on. To cover all these aspects is beyond the scope of this article; hence, our study is restricted to neurodegenerative disorders only. Moreover, faulty functioning of this organelle can be one of the causes of early ageing in individuals. This review emphasizes mutations in the mitochondrial DNA, defects in oxidative phosphorylation, generation of ROS, and apoptosis. Researchers have looked into new approaches that might be able to control mitochondrial failure and show a lot of promise as treatments.</p></div>","PeriodicalId":652,"journal":{"name":"Journal of Molecular Neuroscience","volume":"74 4","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://link.springer.com/content/pdf/10.1007/s12031-024-02269-5.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142518844","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Novel Pathogenic Mutation in WNK1 Gene Causing HSAN Type II in Three Siblings WNK1 基因中的一种新型致病突变导致三个兄弟姐妹中出现 HSAN II 型。

IF 2.8 4区医学

Journal of Molecular Neuroscience Pub Date : 2024-10-23 DOI: 10.1007/s12031-024-02282-8

Maryam Naghinejad, Amir Ebrahimi, Mahmoud Shekari Khaniani, Sima Mansoori Derakhshan

{"title":"A Novel Pathogenic Mutation in WNK1 Gene Causing HSAN Type II in Three Siblings","authors":"Maryam Naghinejad, Amir Ebrahimi, Mahmoud Shekari Khaniani, Sima Mansoori Derakhshan","doi":"10.1007/s12031-024-02282-8","DOIUrl":"10.1007/s12031-024-02282-8","url":null,"abstract":"<div><p>Hereditary sensory and autonomic neuropathy (HSAN) is a rare genetic disorder that primarily affects the peripheral nervous system, leading to a progressive loss of the ability to perceive pain, temperature, and touch. This condition can result in severe complications, including injuries and infections due to the inability to feel pain. HSAN is classified into nine types, with types I and VII exhibiting autosomal dominant inheritance, while the others follow an autosomal recessive pattern. In this study, we examined three affected brothers of Turkish Azeri descent, aged 20, 23, and 25 years. They presented symptoms such as a lack of temperature and pain sensation, frequent wounds and infections, self-harm, and hyperkeratosis. To identify the genetic cause of their condition, whole-exome sequencing (WES) was performed, followed by Sanger sequencing to confirm the findings. The results revealed a homozygous likely pathogenic nonsense mutation, c.2971C > T (p.Arg991Ter), in exon 9 of the <i>WNK1</i> gene. This mutation results in the truncation of three isoforms of the WNK1 protein, which are essential for pain perception. This discovery enhances our understanding of HSAN and highlights the importance of genetic testing for accurate diagnosis and future screening.</p></div>","PeriodicalId":652,"journal":{"name":"Journal of Molecular Neuroscience","volume":"74 4","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142492605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0