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https://www.readbyqxmd.com/read/29353304/unraveling-the-heterogeneity-of-igm-monoclonal-gammopathies-a-gene-mutational-and-gene-expression-study
#1
Cristina Jiménez, María Isabel Prieto-Conde, María García-Álvarez, Miguel Alcoceba, Fernando Escalante, María Del Carmen Chillón, Alfonso García de Coca, Ana Balanzategui, Alberto Cantalapiedra, Carlos Aguilar, Rocío Corral, Tomás González-López, Luis A Marín, Abelardo Bárez, Noemí Puig, Aránzazu García-Mateo, Norma C Gutiérrez, María Eugenia Sarasquete, Marcos González, Ramón García-Sanz
Immunoglobulin M (IgM) monoclonal gammopathies show considerable variability, involving three different stages of presentation: IgM monoclonal gammopathy of undetermined significance (IgM-MGUS), asymptomatic Waldenström's macroglobulinemia (AWM), and symptomatic WM (SWM). Despite recent findings about the genomic and transcriptomic characteristics of such disorders, we know little about the causes of this clinical heterogeneity or the mechanisms involved in the progression from indolent to symptomatic forms...
January 20, 2018: Annals of Hematology
https://www.readbyqxmd.com/read/29353259/non-invasive-prenatal-testing-of-pregnancies-at-risk-for-phenylketonuria
#2
Huikun Duan, Ning Liu, Zhenhua Zhao, Yiqian Liu, Yin Wang, Zhifeng Li, Mengnan Xu, David S Cram, Xiangdong Kong
BACKGROUND: Phenylketonuria (PKU) is a common metabolic disorder caused predominately by mutations in the phenylalanine hydroxylase (PAH) gene. The aim of the study was to design and validate the performance of a non-invasive prenatal test (NIPT) for PKU using circulating single molecule amplification and resequencing technology (cSMART). METHODS: A total of 18 couples at genetic risk for having a child with PKU were recruited to the study. Gold standard invasive prenatal diagnosis (IPD) was performed on amniocyte or villus cell DNA by Sanger sequencing, targeting the known parental PAH mutations...
January 20, 2018: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/29353100/vitamin-d-and-juvenile-systemic-lupus-erythematosus-lights-shadows-and-still-unresolved-issues
#3
REVIEW
Stefano Stagi, Donato Rigante
Systemic lupus erythematosus (SLE) and juvenile SLE (jSLE) are autoimmune disorders naturally associated with several genetic, environmental, hormonal, and immunological contributing factors. It has been assumed that vitamin D deficiency may have a role in the immune activation of patients with SLE and play an active part in many comorbidities and even complications. A host of clinical studies suggested that vitamin D exerts inhibitory effects on many immunological abnormalities associated with SLE, also in children and adolescents, while different reports have hypothesized that vitamin D may be associated with accelerated cardiovascular disease in SLE...
January 15, 2018: Autoimmunity Reviews
https://www.readbyqxmd.com/read/29353055/pituitary-adenylate-cyclase-activating-polypeptide-pacap-signaling-in-the-prefrontal-cortex-modulates-cued-fear-learning-but-not-spatial-working-memory-in-female-rats
#4
Adam J Kirry, Matthew R Herbst, Sarah E Poirier, Michelle M Maskeri, Amy C Rothwell, Robert C Twining, Marieke R Gilmartin
A genetic polymorphism within the gene encoding the pituitary adenylate-cyclase activating polypeptide (PACAP) receptor type I (PAC1R) has recently been associated with hyper-reactivity to threat-related cues in women, but not men, with post-traumatic stress disorder (PTSD). PACAP is a highly conserved peptide, whose role in mediating adaptive physiological stress responses is well established. Far less is understood about the contribution of PACAP signaling in emotional learning and memory, particularly the encoding of fear to discrete cues...
January 15, 2018: Neuropharmacology
https://www.readbyqxmd.com/read/29352661/mechanistic-insights-into-the-genetics-of-affective-psychosis-from-prader-willi-syndrome
#5
REVIEW
Lucie C S Aman, Katherine E Manning, Joyce E Whittington, Anthony J Holland
Schizophrenia and bipolar disorder are common, severe, and disabling psychotic disorders, which are difficult to research. We argue that the genetically determined neurodevelopmental disorder Prader-Willi syndrome (PWS), which is associated with a high risk of affective psychotic illness, can provide a window into genetic mechanisms and associated neural pathways. People with PWS can all show non-psychotic psychopathology and problem behaviours, but the prevalence of psychotic illness differs markedly by genetic subtype; people with PWS due to chromosome 15 maternal uniparental disomy have higher prevalence of psychotic illness compared with patients with PWS due to 15q11-13 deletions of paternal origin...
January 15, 2018: Lancet Psychiatry
https://www.readbyqxmd.com/read/29352613/mrna-translation-gone-awry-translation-fidelity-and-neurological-disease
#6
REVIEW
Mridu Kapur, Susan L Ackerman
Errors during mRNA translation can lead to a reduction in the levels of functional proteins and an increase in deleterious molecules. Advances in next-generation sequencing have led to the discovery of rare genetic disorders, many caused by mutations in genes encoding the mRNA translation machinery, as well as to a better understanding of translational dynamics through ribosome profiling. We discuss here multiple neurological disorders that are linked to errors in tRNA aminoacylation and ribosome decoding. We draw on studies from genetic models, including yeast and mice, to enhance our understanding of the translational defects observed in these diseases...
January 15, 2018: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/29352395/association-between-crp-genetic-diversity-and-bipolar-disorder-comorbid-complications
#7
Wahid Boukouaci, José Oliveira, Bruno Etain, Meriem Bennabi, Christina Mariaselvam, Nora Hamdani, Céline Manier, Djaouida Bengoufa, Frank Bellivier, Chantal Henry, Jean-Pierre Kahn, Dominique Charron, Rajagopal Krishnamoorthy, Marion Leboyer, Ryad Tamouza
BACKGROUND: Chronic low-grade inflammation is believed to contribute, at least in a subset of patients, to the development of bipolar disorder (BD). In this context, the most investigated biological marker is the acute phase response molecule, C-reactive protein (CRP). While the genetic diversity of CRP was amply studied in various pathological settings, little is known in BD. METHODS: 568 BD patients along with 163 healthy controls (HC) were genotyped for the following single-nucleotide polymorphisms (SNPs) on the CRP gene: intron rs1417938 (+ 29) T/A, 3'-UTR rs1130864 (+ 1444) G/A, and downstream rs1205 (+ 1846) (C/T)...
January 20, 2018: International Journal of Bipolar Disorders
https://www.readbyqxmd.com/read/29352205/2-5-hexanedione-induces-dopaminergic-neurodegeneration-through-integrin-%C3%AE-m%C3%AE-2-nadph-oxidase-axis-mediated-microglial-activation
#8
Cong Zhang, Liyan Hou, Jie Yang, Yuning Che, Fuqiang Sun, Huihua Li, Qingshan Wang
Recent study demonstrated that chronic exposure to solvents increases the risk of Parkinson's disease (PD), the second most common neurodegenerative disorder characterized by progressive dopaminergic neurodegeneration in the substantia nigra (SN). n-Hexane, a widely used organic solvent, displays central-peripheral neurotoxicity, which is mainly mediated by its active metabolite, 2,5-hexanedione (HD). However, whether HD exposure contributes to PD remains unclear. In this study, we found that rats exposed to HD displayed progressive dopaminergic neurodegeneration in the nigrostriatal system...
January 19, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29352102/teenage-onset-progressive-myoclonic-epilepsy-due-to-a-familial-c9orf72-repeat-expansion
#9
Jelle van den Ameele, Ivana Jedlickova, Anna Pristoupilova, Anne Sieben, Sara Van Mossevelde, Chantal Ceuterick-de Groote, Helena Hůlková, Radoslav Matej, Alfred Meurs, Christine Van Broeckhoven, Samuel F Berkovic, Patrick Santens, Stanislav Kmoch, Bart Dermaut
BACKGROUND: The progressive myoclonic epilepsies (PME) are a heterogeneous group of disorders in which a specific diagnosis cannot be made in a subset of patients, despite exhaustive investigation. C9orf72 repeat expansions are emerging as an important causal factor in several adult-onset neurodegenerative disorders, in particular frontotemporal lobar degeneration and amyotrophic lateral sclerosis. An association with PME has not been reported previously. OBJECTIVE: To identify the causative mutation in a Belgian family where the proband had genetically unexplained PME...
January 19, 2018: Neurology
https://www.readbyqxmd.com/read/29352063/arabidopsis-thaliana-fancd2-promotes-meiotic-crossover-formation
#10
Marie-Therese Kurzbauer, Monica Pradillo, Claudia Kerzendorfer, Jason Sims, Rene Ladurner, Cecilia Oliver, Michael Peter Janisiw, Magdalena Mosiolek, Dieter Schweizer, Gregory P Copenhaver, Peter Schlogelhofer
Fanconi anemia (FA) is a human autosomal recessive disorder characterized by chromosomal instability, developmental pathologies, predisposition to cancer and reduced fertility. So far, nineteen genes have been implicated in FA, most of them involved in DNA repair. Some are conserved across higher eukaryotes, including plants. The Arabidopsis thaliana genome encodes a homologue of the Fanconi anemia D2 gene (FANCD2) whose function in DNA repair is not yet fully understood. Here we provide evidence that AtFANCD2 is required for meiotic homologous recombination...
January 19, 2018: Plant Cell
https://www.readbyqxmd.com/read/29352035/using-mouse-transgenic-and-human-stem-cell-technologies-to-model-genetic-mutations-associated-with-schizophrenia-and-autism
#11
REVIEW
David St Clair, Mandy Johnstone
Solid progress has occurred over the last decade in our understanding of the molecular genetic basis of neurodevelopmental disorders, and of schizophrenia and autism in particular. Although the genetic architecture of both disorders is far more complex than previously imagined, many key loci have at last been identified. This has allowed in vivo and in vitro technologies to be refined to model specific high-penetrant genetic loci involved in both disorders. Using the DISC1/NDE1 and CYFIP1/EIF4E loci as exemplars, we explore the opportunities and challenges of using animal models and human-induced pluripotent stem cell technologies to further understand/treat and potentially reverse the worst consequences of these debilitating disorders...
March 19, 2018: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/29352031/can-we-use-mice-to-study-schizophrenia
#12
REVIEW
Sarah Canetta, Christoph Kellendonk
The validity of rodent models for the study of psychiatric disorders is controversial. Despite great efforts from academic institutions and pharmaceutical companies, as of today, no major therapeutic intervention has been developed for the treatment of psychiatric disorders based on mechanistic insights from rodent models. Here, we argue that despite these historical shortcomings, rodent studies are nevertheless instrumental for identifying neuronal circuit mechanisms underlying behaviours that are affected in psychiatric disorders...
March 19, 2018: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/29352030/the-daunting-polygenicity-of-mental-illness-making-a-new-map
#13
REVIEW
Steven E Hyman
An epochal opportunity to elucidate the pathogenic mechanisms of psychiatric disorders has emerged from advances in genomic technology, new computational tools and the growth of international consortia committed to data sharing. The resulting large-scale, unbiased genetic studies have begun to yield new biological insights and with them the hope that a half century of stasis in psychiatric therapeutics will come to an end. Yet a sobering picture is coming into view; it reveals daunting genetic and phenotypic complexity portending enormous challenges for neurobiology...
March 19, 2018: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/29351781/mindmap-establishing-an-integrated-database-infrastructure-for-research-in-ageing-mental-well-being-and-the-urban-environment
#14
Mariëlle A Beenackers, Dany Doiron, Isabel Fortier, J Mark Noordzij, Erica Reinhard, Emilie Courtin, Martin Bobak, Basile Chaix, Giuseppe Costa, Ulrike Dapp, Ana V Diez Roux, Martijn Huisman, Emily M Grundy, Steinar Krokstad, Pekka Martikainen, Parminder Raina, Mauricio Avendano, Frank J van Lenthe
BACKGROUND: Urbanization and ageing have important implications for public mental health and well-being. Cities pose major challenges for older citizens, but also offer opportunities to develop, test, and implement policies, services, infrastructure, and interventions that promote mental well-being. The MINDMAP project aims to identify the opportunities and challenges posed by urban environmental characteristics for the promotion and management of mental well-being and cognitive function of older individuals...
January 19, 2018: BMC Public Health
https://www.readbyqxmd.com/read/29351106/the-role-of-patient-registries-for-rare-genetic-lipid-disorders
#15
David M Ng, Amanda J Hooper, Matthew I Bellgard, John R Burnett
PURPOSE OF REVIEW: We review the role, utility and current status of patient registries for rare genetic lipid disorders. RECENT FINDINGS: The creation and maintenance of rare genetic lipid disorder patient registries is critical for disease monitoring, improving clinical best practice, facilitating research and enabling the development of novel therapeutics. An open-source disease registry platform, termed the Rare Disease Registry Framework, has been developed, optimized and deployed for homozygous familial hypercholesterolemia...
January 17, 2018: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/29351094/clinical-and-molecular-characterization-of-nine-chinese-patients-affected-by-hypofibrinogenemia-or-dysfibrinogenemia
#16
Yingyu Wang, Wenbai Chen, Ping Ma, Liqing Zhu, Mingshan Wang
: Congential fibrinogen deficiency is a rare bleeding disorder caused by various mutations in three fibrinogen genes. It can be subdivided into four categories: afibrinogenemia, hypofibrinogenemia, hypodysfibrinogenemia and dysfbrinogenemia. This study was to elucidate the molecular defects in nine unrelated Chinese patients with hypofibrinogenemia or dysfibrinogenemia. Three fibrinogen genes were amplified by PCR and screened for variants. The identified variants were analyzed by bioinformatics prediction and molecular modeling analysis...
January 17, 2018: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/29351004/duchenne-muscular-dystrophy-dmd-an-updated-review-of-common-available-therapies
#17
Arash Salmaninejad, Saeed Farajzadeh Valilou, Hadi Bayat, Nader Ebadi, Abdolreza Daraei, Meysam Yousefi, Abolfazl Nesaei, Majid Mojarrad
Duchenne muscular dystrophy (DMD) is a lethal progressive pediatric muscle disorder and genetically inherited as an X-linked disease that caused by mutations in the dystrophin gene. DMD leads to progressive muscle weakness, degeneration, and wasting; finally, follows with the premature demise in affected individual's due to respiratory and/or cardiac failure typically by age of 30. For decades, scientists tried massively to find an effective therapy method, but there is no absolute cure currently for patients with DMD, nevertheless, recent advanced progressions on the treatment of DMD will be hopeful in the future...
January 19, 2018: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29350886/the-cell-biology-and-molecular-genetics-of-m%C3%A3-llerian-duct-development
#18
REVIEW
Zahida Yesmin Roly, Brendan Backhouse, Andrew Cutting, Tiong Yang Tan, Andrew H Sinclair, Katie L Ayers, Andrew T Major, Craig A Smith
The Müllerian ducts are part of the embryonic urogenital system. They give rise to mature structures that serve a critical function in the transport and development of the oocyte and/or embryo. In most vertebrates, both sexes initially develop Müllerian ducts during embryogenesis, but they regress in males under the influence of testis-derived Anti-Müllerian Hormone (AMH). A number of regulatory factors have been shown to be essential for proper duct development, including Bmp and Wnt signaling molecules, together with homeodomain transcription factors such as PAX2 and LIM1...
January 19, 2018: Wiley Interdisciplinary Reviews. Developmental Biology
https://www.readbyqxmd.com/read/29349890/case-report-cytochrome-p450-implications-for-comorbid-adhd-and-ocd-pharmacotherapy
#19
Michaela K Hogan, Nikhil P Rao
TOPIC: This case report details the treatment of an early adolescent already receiving treatment for attention-deficit hyperactivity disorder who presents with recurrent obsessive-compulsive disorder. Potential atomoxetine (Strattera) and fluoxetine (Prozac) interactions via Cytochrome P450 (CYP450) pathways are examined and alternate therapies are recommended. PURPOSE: Provide a discussion of psychopharmacogenomics, especially in the case of combining medications, CYP450 enzymes, and clinical implications in the context of the burgeoning field of precision medicine...
January 19, 2018: Journal of Child and Adolescent Psychiatric Nursing
https://www.readbyqxmd.com/read/29349629/cerebellum-from-development-to-disease-the-8th-international-symposium-of-the-society-for-research-on-the-cerebellum-and-ataxias
#20
EDITORIAL
Hassan Marzban, Mario Manto, Jean Mariani
In recent years, there has been tremendous growth in research on cerebellar motor and non-motor functions. Cerebellum is particularly involved in the spectrum of neurodevelopmental diseases. The 8th International Symposium of the Society for Research on the Cerebellum and Ataxia (SRCA) was held in Winnipeg, Manitoba, (Canada) on May 24-26, 2017. The main theme of the 8th International Symposium was "Development of the Cerebellum and Neurodevelopmental Disorders." Advances in genetics, epigenetic, cerebellar neurogenesis, axonogenesis and gliogenesis, cerebellar developmental disorders including autism spectrum disorders (ASD), neuroimaging, cerebellar ataxias, medulloblastoma, and clinical investigation of cerebellar diseases were presented...
January 18, 2018: Cerebellum
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