AIMS Molecular Science最新文献

{"title":"Genotypic and phenotypic variability of 22q11.2 microdeletions - an institutional experience.","authors":"Gabrielle C Manno,&nbsp;Gabrielle S Segal,&nbsp;Alexander Yu,&nbsp;Fangling Xu,&nbsp;Joseph W Ray,&nbsp;Erin Cooney,&nbsp;Allison D Britt,&nbsp;Sunil K Jain,&nbsp;Randall M Goldblum,&nbsp;Sally S Robinson,&nbsp;Jianli Dong","doi":"10.3934/molsci.2021020","DOIUrl":"https://doi.org/10.3934/molsci.2021020","url":null,"abstract":"<p><p>Patients with chromosome 22q11.2 deletion syndromes classically present with variable cardiac defects, parathyroid and thyroid gland hypoplasia, immunodeficiency and velopharyngeal insufficiency, developmental delay, intellectual disability, cognitive impairment, and psychiatric disorders. New technologies including chromosome microarray have identified smaller deletions in the 22q11.2 region. An increasing number of studies have reported patients presenting with various features harboring smaller 22q11.2 deletions, suggesting a need to better elucidate 22q11.2 deletions and their phenotypic contributions so that clinicians may better guide prognosis for families. We identified 16 pediatric patients at our institution harboring various 22q11.2 deletions detected by chromosomal microarray and report their clinical presentations. Findings include various neurodevelopmental delays with the most common one being attention deficit hyperactivity disorder (ADHD), one reported case of infant lethality, four cases of preterm birth, one case with dual diagnoses of 22q11.2 microdeletion and Down syndrome. We examined potential genotypic contributions of the deleted regions.</p>","PeriodicalId":44217,"journal":{"name":"AIMS Molecular Science","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8691803/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39750562","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic etiology of cleft lip and cleft palate","authors":"Aneela Khan, C. Prashanth, N. Srinath","doi":"10.3934/MOLSCI.2020016","DOIUrl":"https://doi.org/10.3934/MOLSCI.2020016","url":null,"abstract":"Genetic studies in humans have demonstrated that Cleft lip with or without cleft palate (CL/P) have a diverse genetic background and probably environmental factors influencing these malformations. CL/P is one of the most common congenital birth defects in the craniofacial region with complex etiology involving multiple genetic factors, environmental factors and gene-environment interaction. Children born with these defects suffer from various difficulties such as difficulty in speech, hearing, feeding and other psychosocial problems, and their rehabilitation involves a multidisciplinary approach. The article describes the brief introduction of CL/P, epidemiology and general concepts, etiological factors, and the genes implicated in the etiology of nonsyndromic CL/P (NSCL/P) as suggested by different human genetic studies, animal models, and other expression studies.","PeriodicalId":44217,"journal":{"name":"AIMS Molecular Science","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2020-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44910640","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Isolation of naringinase producing soil bacteria from Psidium guajava L. and Terminalia chebula Retz and its enzymatic activity","authors":"Kabyashree Phukan, D. Kardong","doi":"10.3934/MOLSCI.2020014","DOIUrl":"https://doi.org/10.3934/MOLSCI.2020014","url":null,"abstract":"In commercial citrus juice, bitterness causes serious challenges in fruit juice manufacturing industries. The prime cause of bitterness is due to the presence of naringin compound. It is noted that microbial enzyme retains some specific catalytic reactions of physicochemical and biological properties possessing high degree of industrial and medical applications. The microbial enzyme naringinase can be immobilized for industrial use to reduce the cost of debittering of juice. Since environment friendly industrial biocatalysts are economically more viable, so the focus on the present study is debittering of juice at low cost without using chemicals which alter the nutrient composition. In the present study, four strains of naringin degrading bacteria were isolated from the soil of Psidium guajava L. and Terminalia chebula Retz in Dibrugarh University Botanical Garden and were investigated for naringinase activity of soil microbes and their growth conditions at different parameters. The turbidity of cell culture and concentration of proteins in the culture media have been utilized for the optimization of various growth conditions, like temperature and pH for microbial growth. The optimal growth of the four isolates was observed in a media of pH 6 and selected for further study. All the four isolates showed good extracellular naringinase activity. Among the four isolates, oval and rod shaped gram positive bacteria showed the highest specific activity (405.31 U/mg) and lowest activity was shown by rod shaped gram negative bacteria (231.77 U/mg). Furthermore, rod shaped isolate exhibited maximum growth and highest protein content among the four isolates. These results suggested that in addition to the naringinase enzyme, some other proteins were also produced by the isolates. These proteins might have some significance in supporting the growth of the microorganisms.","PeriodicalId":44217,"journal":{"name":"AIMS Molecular Science","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2020-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45007891","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Features, roles and chiral analyses of proteinogenic amino acids","authors":"N. Ayon","doi":"10.3934/molsci.2020011","DOIUrl":"https://doi.org/10.3934/molsci.2020011","url":null,"abstract":"Amino acids (AAs) are important biomolecules responsible for plethora of functions in both prokaryotic and eukaryotic systems. There are 22 naturally occurring amino acids, among which 20 common amino acids appear in the genetic code and known as proteinogenic amino acids, which are the building blocks of proteins. Proteinogenic amino acids exist in two isomeric forms (except glycine) and the biological activity is often attributed to a specific stereoisomer. Most of the amino acids found in protein is predominantly L-AAs. A few D-amino acids can be found in bacterial cell wall, some marine invertebrates and higher organisms including frog, snail, spider, rat, chicken and human. Besides their role in protein synthesis, different proteinogenic amino acid stereoisomers have found to perform important biological roles either by functioning as precursors of a myriad of other bioactive molecules or by indicating several biological phenomena i.e. acting as markers for different physiological conditions. Given the biological importance of L- and D-amino acids (AAs), improved analytical methods for their resolution and accurate quantification remain of keen interest. Chiral analysis of amino acids in complex biological matrices poses numerous analytical challenges that are exacerbated by broad differences in polarity and ionization efficiencies of the proteinogenic amino acid stereoisomers. To date, various analytical methods are reported for chiral amino acid analysis including chromatographic, spectrometric, enzymatic, fluidic, electrophoretic and microbiological techniques. Advances in stationary phase, derivatization chemistry and instrumentation contributed to achieving baseline separation and accurate detection of trace levels of proteinogenic amino acids stereoisomers in different matrices. However, liquid and gas chromatography coupled to mass spectrometry based analytical methods remain the most popular platform in chiral amino acid analysis in terms of feasibility and performance. This review discusses different physicochemical and biological features and functions of proteinogenic amino acid stereoisomers and lists a variety of established chromatography and mass spectrometry based analytical methods for their analysis reported to date.","PeriodicalId":44217,"journal":{"name":"AIMS Molecular Science","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2020-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46199643","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Shigella pathogenesis: molecular and computational insights","authors":"S. Mukhopadhyay, S. Ganguli, S. Chakrabarti","doi":"10.3934/molsci.2020007","DOIUrl":"https://doi.org/10.3934/molsci.2020007","url":null,"abstract":"Shigellosis, characterized by inflammation and ulceration of the large intestine, is caused by infection with Shigella species. It is a major public health problem in developing countries where filthy sanitation practices and restricted access to clean water encourage the spread of the disease. Shigellosis is spread by means of fecal-oral route. It is one of the most common disorders specially affecting children in West Bengal, India. Disease from Shigella species accounts for 165 million cases of diarrhoea culminating in one million deaths annually worldwide. Severe dysentery is treated still with antibiotics, with limited success because of the continuous development of multi drug resistance by the bacteria. WHO has identified Shigella as a potential target pathogen against which new drugs need to be formulated and in silico approach has the potential to identify drug targets. Molecular modeling of Shigella invasion proteins using computational tools may divulge novel therapeutic targets that can be used for future pharmacological intervention. Detailed annotation of previously unknown Hypothetical Proteins using an in-silico pipeline can identify crucial proteins in pathogenesis cascade, which can be explored further as effective drug targets, which may eventually enable us to combat the menace of shigellosis.","PeriodicalId":44217,"journal":{"name":"AIMS Molecular Science","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2020-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41689733","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cell division symmetry control and cancer stem cells.","authors":"Sreemita Majumdar,&nbsp;Song-Tao Liu","doi":"10.3934/molsci.2020006","DOIUrl":"https://doi.org/10.3934/molsci.2020006","url":null,"abstract":"<p><p>Stem cells including cancer stem cells (CSC) divide symmetrically or asymmetrically. Usually symmetric cell division makes two daughter cells of the same fate, either as stem cells or more differentiated progenies; while asymmetric cell division (ACD) produces daughter cells of different fates. In this review, we first provide an overview of ACD, and then discuss more molecular details of ACD using the well-characterized <i>Drosophila</i> neuroblast system as an example. Aiming to explore the connections between cell heterogeneity in cancers and the critical need of ACD for self-renewal and generating cell diversity, we then examine how cell division symmetry control impacts common features associated with CSCs, including niche competition, cancer dormancy, drug resistance, epithelial-mesenchymal transition (EMT) and its reverse process mesenchymal-epithelial transition (MET), and cancer stem cell plasticity. As CSC may underlie resistance to therapy and cancer metastasis, understanding how cell division mode is selected and executed in these cells will provide possible strategies to target CSC.</p>","PeriodicalId":44217,"journal":{"name":"AIMS Molecular Science","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7500705/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38399739","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Phospholipid synthetic and turnover pathways elicited upon exposure to different xenobiotics","authors":"Teresa M. Fonovich","doi":"10.3934/molsci.2020010","DOIUrl":"https://doi.org/10.3934/molsci.2020010","url":null,"abstract":"Phospholipids, neutral lipids and glycolipids metabolism take the place during cell responses to different stimuli. Phospholipase and acyl glycerol lipase activities have been demonstrated to release second messengers that trigger cascade responses. Studies on lipid droplets structure, formation and interaction with other organelles have recently been described in prokaryotes and eukaryotes. Remodeling of membrane phospholipids has also been reported. NMR studies performed on synthetic membranes allowed to postulate membrane lipids polymorphism and to explain how processes like cell division, endocytosis and exocytosis can take place, due to special arrangements of the membranes. Studies from our research group on the pesticide dieldrin and Cu2+ effects through exposure of amphibian oocytes and embryos to sub-lethal and acclimation concentrations followed by toxic concentration challenges respectively, are discussed. Membrane phospholipids structure alterations allowing stabilization of bilayer arrangements were found for both stressors in cell and tissues. Metallothionein induction response that prevents oxidative stress was also found in acclimated embryo tissues. Probable connections between enzyme activities taking place on lysophospholipid and triacylglycerol substrates present in lipid droplets as well as phospholipid trafficking leading to modifications on membrane phospholipid ratios are discussed. Current new evidences in agreement with our findings allow us to suggest that our previously published results of dieldrin effects on amphibian cells correspond to joint coordinated activities, which probably had involved various metabolic pathways, in line with the acclimation experiment results and discussion. Independently of the cascade responses each toxicant is able to elicit, lipids play an important role in cell responses, both through rapid turnover and final stabilization of membrane bilayers.","PeriodicalId":44217,"journal":{"name":"AIMS Molecular Science","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70225807","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nuclear neurotransmitter molecular imaging of autism spectrum disorder","authors":"A. Syed, James Robert Brašić","doi":"10.3934/molsci.2019.4.87","DOIUrl":"https://doi.org/10.3934/molsci.2019.4.87","url":null,"abstract":"Autism spectrum disorder (ASD) is a group of developmental disabilities characterized by marked deficits in social communication and interaction, including limited and repetitive patterns of behavior. We selected key nuclear neurotransmitter molecular imaging reports of ASD by combining “autism” AND “positron” AND “dopamine” OR “serotonin” OR “glutamate” OR “GABA” utilizing databases as follows: PubMed, Scopus, Web of Science, Science Direct, and Google Scholar. This review reports important findings in ASD utilizing positron emission tomography (PET) and single-photon emission computed tomography (SPECT). We studied major neurotransmitter systems, dopamine, serotonin, glutamate, and gamma-aminobutyric acid (GABA). Dopamine neurotransmission was decreased in the anterior medial prefrontal cortex in children with autism. Dopamine transporter was increased in the orbital frontal cortex of adults with ASD and decreased in the striatum of children with ASD. Decreased tryptophan metabolism, an estimate of serotonin synthesis, (A) in left frontal cortex correlated with severe language impairment and (B) in the right frontal cortex correlated with left and mixed handedness. Although not confirmed by some investigators, serotonin transporter was decreased in the cingulate, the medial frontal cortex, the midbrain, and the temporal lobes. Serotonin receptors were decreased in the thalamus in individuals with ASD and in the cortices of parents of children with ASD. Metabotropic glutamate receptor subtype 5 (mGluR 5 ) was increased in the post-central gyrus and the cerebellum of men with autism. PET studies for GABA did not differentiate people with ASD from controls. The increasing incidence of ASD and the inconsistent findings of different nuclear molecular imaging studies are evidence for the urgent need for further investigations utilizing nuclear molecular imaging to identify the key neurophysiological mechanisms underlying the pathophysiology of ASD.","PeriodicalId":44217,"journal":{"name":"AIMS Molecular Science","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2019-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46842214","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Is there a role for melatonin in fibromyalgia?","authors":"K. Lawson","doi":"10.3934/molsci.2019.4.73","DOIUrl":"https://doi.org/10.3934/molsci.2019.4.73","url":null,"abstract":"Fibromyalgia, characterised by persistent pain, fatigue, sleep disturbance and cognitive dysfunction, is a central sensitivity syndrome that also involves abnormality in peripheral generators and in the hypothalamic pituitary adrenal axis. Heterogeneity of clinical expression of fibromyalgia with a multifactorial aetiology has made the development of effective therapeutic strategies challenging. Physiological properties of the neurohormone melatonin appear related to the symptom profile exhibited by patients with fibromyalgia and thus disturbance of it’s production would be compatible with the pathophysiology. Altered levels of melatonin have been observed in patients with fibromyalgia which are associated with lower secretion during dark hours and higher secretion during daytime. However, inconsistencies of available clinical evidence limit conclusion of a relationship between levels of melatonin and symptom profiles in patients with fibromyalgia. Administration of melatonin to patients with fibromyalgia has demonstrated suppression of many symptoms and an improved quality of life consistent with benefit as a therapy for the management of this condition. Further studies with larger samples, however, are required to explore the potential role of melatonin in the pathophysiology of fibromyalgia and determine the optimal dosing regimen of melatonin for the management of fibromyalgia.","PeriodicalId":44217,"journal":{"name":"AIMS Molecular Science","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2019-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46031773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Autism-modifying therapy based on the promotion of a brain enzyme: An introductory case-report","authors":"D. Béroule","doi":"10.3934/molsci.2019.3.52","DOIUrl":"https://doi.org/10.3934/molsci.2019.3.52","url":null,"abstract":"An interdisciplinary study of autism led to implicate the relatively poor degradation of synaptic serotonin , a molecule involved in brain development. Consequent metabolic imbalance of monoamine neurotransmitters is assumed to impede memory encoding across sleep stages, hence the building of aberrant neural structures linked with autistic symptoms. A medication can be derived from this theoretical approach, with the aim of regulating neuromodulation whereby proper neural networks may start growing over impaired ones. The Valproate anticonvulsant has been prescribed here for its contribution to the promotion of a relevant brain enzyme known as Monoamine oxidase A (MAOA). Whereas case-studies usually focus on a subset of symptoms for less than three months in mild to moderate autism, the evolution of every autistic symptom has been witnessed across one year in an 11-year boy with severe autism. Rapid improvement of sleep, followed by the rising of visual exploration, preceded positive shifts of the core symptoms noticeable nine months later, however still impeded by bursts of hyperactivity. The adjunctive medication of Methylphenidate psychostimulant permitted afterwards to increase the attention span without interfering with Valproate. Such combination of MAOA-inducer and psychostimulant eventually favored the gradual acquisition of social conditioning, without fully erasing poor habits issued from ten years of autism. Because restricted to a disease-modifying action, this dual therapy relies on accompanying educational assistance, as notably learnt from its exploratory monitoring. Other insights focus on specific biomarkers as well as functional polymorphisms of relevant genes promoters, with the aim of guiding future clinical trials.","PeriodicalId":44217,"journal":{"name":"AIMS Molecular Science","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2019-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41945946","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}