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https://www.readbyqxmd.com/read/27933583/looking-beyond-the-5-httlpr-polymorphism-genetic-and-epigenetic-layers-of-regulation-affecting-the-serotonin-transporter-gene-expression
#1
REVIEW
Sandra Iurescia, Davide Seripa, Monica Rinaldi
Serotonin (5-HT) is a neurotransmitter that regulates fundamental aspects of brain development, physiology and behaviour. The serotonin transporter (5-HTT) is deputized to the reuptake of 5-HT from the intersynaptic space in the presynaptic neurons. 5-HTT governs duration and magnitude of 5-HT biological actions, acting as a master regulator of the fine-tuning of 5-HT signalling. Genetic variation at SLC6A4 gene locus, encoding 5-HTT, contributes to alteration in 5-HT reuptake. The 5-HTTLPR/rs25531/rs25532 polymorphisms located in the promoter region of SLC6A4 gene have been associated with stress-related psychopathology and functional brain phenotypes...
December 8, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27924526/the-p-r151c-polymorphism-in-mc1r-gene-modifies-the-age-of-onset-in-spanish-huntington-s-disease-patients
#2
Gemma Tell-Marti, Joan Anton Puig-Butille, Pol Gimenez-Xavier, Ariadna Segu-Roig, Miriam Potrony, Celia Badenas, Victoria Alvarez, José M Millán, María José Trujillo-Tiebas, María A Ramos-Arroyo, Montserrat Milà, Susana Puig
The expansion of CAG repeats (≥36 CAG) in the HTT gene is the only known genetic cause of Huntington's disease (HD) and the main determinant of the course of the disease. The length of the expanded CAG repeats correlates inversely with the age of onset (AOO) but does not completely determine it. We investigated the role of the melanocortin 1 receptor (MC1R) gene as a modifier factor of AOO in 600 HD patients from Spain. We sequenced the entire region of the MC1R gene and analyzed all the nonsynonymous MC1R genetic variants with a minor allele frequency of at least 0...
December 6, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27913616/genetic-contributors-to-intergenerational-cag-repeat-instability-in-huntington-s-disease-knock-in-mice
#3
João Luís Neto, Jong-Min Lee, Ali Afridi, Tammy Gillis, Jolene R Guide, Stephani Dempsey, Brenda Lager, Isabel Alonso, Vanessa C Wheeler, Ricardo Mouro Pinto
Huntington's disease is a neurodegenerative disorder caused by the expansion of a CAG trinucleotide repeat in exon 1 of the HTT gene. Longer repeat sizes are associated with increased disease penetrance and earlier ages of onset. Intergenerationally unstable transmissions are common in Huntington's disease families, partly underlying the genetic anticipation seen in this disorder. Huntington's disease CAG knock-in mouse models also exhibit a propensity for intergenerational repeat size changes. In this work, we examine intergenerational instability of the CAG repeat in over 20,000 transmissions in the largest Huntington's disease knock-in mouse model breeding datasets reported to date...
December 2, 2016: Genetics
https://www.readbyqxmd.com/read/27900343/divergence-and-rewiring-of-regulatory-networks-for-neural-development-between-human-and-other-species
#4
COMMENT
Ping Wang, Dejian Zhao, Shira Rockowitz, Deyou Zheng
Neural and brain development in human and other mammalian species are largely similar, but distinct features exist at the levels of macrostructure and underlying genetic control. Comparative studies of epigenetic regulation and transcription factor (TF) binding in humans, chimpanzees, rodents, and other species have found large differences in gene regulatory networks. A recent analysis of the cistromes of REST/NRSF, a critical transcriptional regulator for the nervous system, demonstrated that REST binding to syntenic genomic regions (i...
2016: Neurogenesis (Austin, Tex.)
https://www.readbyqxmd.com/read/27891320/the-association-of-vdac-with-cell-viability-of-pc12-model-of-huntington-s-disease
#5
Andonis Karachitos, Daria Grobys, Klaudia Kulczyńska, Adrian Sobusiak, Hanna Kmita
It is becoming increasingly apparent that mitochondria dysfunction plays an important role in the pathogenesis of Huntington's disease (HD), but the underlying mechanism is still elusive. Thus, there is a still need for further studies concerning the upstream events in the mitochondria dysfunction that could contribute to cell death observed in HD. Taking into account the fundamental role of the voltage-dependent anion-selective channel (VDAC) in mitochondria functioning, it is reasonable to consider the channel as a crucial element in HD etiology...
2016: Frontiers in Oncology
https://www.readbyqxmd.com/read/27874067/5-htr3-and-5-htr4-located-on-the-mitochondrial-membrane-and-functionally-regulated-mitochondrial-functions
#6
Qingyi Wang, Huiyuan Zhang, Hao Xu, Dongqing Guo, Hui Shi, Yuan Li, Weiwei Zhang, Yuchun Gu
5-HT has been reported to possess significant effects on cardiac activities, but activation of 5-HTR on the cell membrane failed to illustrate the controversial cardiac reaction. Because 5-HT constantly comes across the cell membrane via 5-HT transporter (5-HTT) into the cytoplasm, whether 5-HTR is functional present on the cellular organelles is unknown. Here we show 5-HTR3 and 5-HTR4 were located in cardiac mitochondria, and regulated mitochondrial activities and cellular functions. Knock down 5-HTR3 and 5-HTR4 in neonatal cardiomyocytes resulted in significant increase of cell damage in response to hypoxia, and also led to alternation in heart beating...
November 22, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27870408/sex-specific-effects-of-the-huntington-gene-on-normal-neurodevelopment
#7
Jessica K Lee, Yue Ding, Amy L Conrad, Elena Cattaneo, Eric Epping, Kathy Mathews, Pedro Gonzalez-Alegre, Larry Cahill, Vincent Magnotta, Bradley L Schlaggar, Joel S Perlmutter, Regina E Y Kim, Jeffrey D Dawson, Peg Nopoulos
Huntington disease is a neurodegenerative disorder caused by a gene (HTT) with a unique feature of trinucleotide repeats ranging from 10 to 35 in healthy people; when expanded beyond 39 repeats, Huntington disease develops. Animal models demonstrate that HTT is vital to brain development; however, this has not been studied in humans. Moreover, evidence suggests that triplet repeat genes may have been vital in evolution of the human brain. Here we evaluate brain structure using magnetic resonance imaging and brain function using cognitive tests in a sample of school-aged children ages 6 to 18 years old...
January 2, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/27869229/tetratricopeptide-repeat-domain-9a-modulates-anxiety-like-behavior-in-female-mice
#8
Lee Wei Lim, Smeeta Shrestha, Yu Zuan Or, Shawn Zheng Kai Tan, Hwa Hwa Chung, Yang Sun, Chew Leng Lim, Sharafuddin Khairuddin, Thomas Lufkin, Valerie Chun Ling Lin
Tetratricopeptide repeat domain 9A (TTC9A) expression is abundantly expressed in the brain. Previous studies in TTC9A knockout (TTC9A(-/-)) mice have indicated that TTC9A negatively regulates the action of estrogen. In this study we investigated the role of TTC9A on anxiety-like behavior through its functional interaction with estrogen using the TTC9A(-/-) mice model. A battery of tests on anxiety-related behaviors was conducted. Our results demonstrated that TTC9A(-/-) mice exhibited an increase in anxiety-like behaviors compared to the wild type TTC9A(+/+) mice...
November 21, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27868347/identification-of-extreme-motor-phenotypes-in-huntington-s-disease
#9
Ulrike Braisch, Birgit Hay, Rainer Muche, Dietrich Rothenbacher, G Bernhard Landwehrmeyer, Jeffrey D Long, Michael Orth
The manifestation of motor signs in Huntington's disease (HD) has a well-known inverse relationship with HTT CAG repeat length, but the prediction is far from perfect. The probability of finding disease modifiers is enhanced in individuals with extreme HD phenotypes. We aimed to identify extreme HD motor phenotypes conditional on CAG and age, such as patients with very early or very late onset of motor manifestation. Retrospective data were available from 1,218 healthy controls and 9,743 HD participants with CAG repeats ≥40, and a total of about 30,000 visits...
November 21, 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27857176/glycation-potentiates-neurodegeneration-in-models-of-huntington-s-disease
#10
Hugo Vicente Miranda, Marcos António Gomes, Joana Branco-Santos, Carlo Breda, Diana F Lázaro, Luísa Vaqueiro Lopes, Federico Herrera, Flaviano Giorgini, Tiago Fleming Outeiro
Protein glycation is an age-dependent posttranslational modification associated with several neurodegenerative disorders, including Alzheimer's and Parkinson's diseases. By modifying amino-groups, glycation interferes with folding of proteins, increasing their aggregation potential. Here, we studied the effect of pharmacological and genetic manipulation of glycation on huntingtin (HTT), the causative protein in Huntington's disease (HD). We observed that glycation increased the aggregation of mutant HTT exon 1 fragments associated with HD (HTT72Q and HTT103Q) in yeast and mammalian cell models...
November 18, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27856786/a-high-resolution-in-vivo-atlas-of-the-human-brain-s-serotonin-system
#11
Vincent Beliveau, Melanie Ganz, Ling Feng, Brice Ozenne, Liselotte Højgaard, Patrick M Fisher, Claus Svarer, Douglas N Greve, Gitte M Knudsen
: The serotonin (5-HT) system modulates many important brain functions and is critically involved in many neuropsychiatric disorders. We here present a high-resolution multi-dimensional in vivo atlas of four of the human brain's 5-HT receptors (5-HT1A, 5-HT1B, 5-HT2A, and 5-HT4) as well as of the 5-HT transporter (5-HTT). The atlas is created from molecular and structural high-resolution neuroimaging data consisting of Positron Emission Tomography (PET) and Magnetic Resonance Imaging (MRI) scans, acquired in a total of 210 healthy individuals...
November 17, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27856625/longitudinal-micropet-imaging-of-the-zq175-mouse-model-of-huntington-s-disease-shows-in-vivo-changes-of-molecular-targets-in-the-striatum-and-the-cerebral-cortex
#12
Jenny Häggkvist, Miklós Tóth, Lenke Tari, Katarina Varnäs, Marie Svedberg, Anton Forsberg, Sangram Nag, Celia Dominguez, Ignacio Munoz-Sanjuan, Jonathan Bard, John Wityak, Andrea Varrone, Christer Halldin, Ladislav Mrzljak
RATIONALE: Since the discovery of the HTT gene in 1993, numerous animal models have been developed to study the progression of Huntington's disease, as well as to evaluate potential new therapeutics. In the present study we used small animal positron emission tomography (PET) to characterize the expression of molecular targets in the recently reported HD animal model, the zQ175 mouse model. METHODS: Male heterozygous zQ175 (Htttm1Mfc/190JChdi, CHDI-81003003) and wild type (WT, C57BL/6J) animals were imaged with the dopamine D2-receptor radioligand [(11)C]raclopride, the PDE10A radioligand [(18)F]MNI-659, the dopamine D1-receptor radioligand [(11)C]NNC 112 and the 5-HT2A radioligand [(11)C]MDL 100907 at 6 and 9 months of age...
November 10, 2016: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
https://www.readbyqxmd.com/read/27853465/epigenetic-dna-methylation-profiling-with-msre-a-quantitative-ngs-approach-using-a-parkinson-s-disease-test-case
#13
Adam G Marsh, Matthew T Cottrell, Morton F Goldman
Epigenetics is a rapidly developing field focused on deciphering chemical fingerprints that accumulate on human genomes over time. As the nascent idea of precision medicine expands to encompass epigenetic signatures of diagnostic and prognostic relevance, there is a need for methodologies that provide high-throughput DNA methylation profiling measurements. Here we report a novel quantification methodology for computationally reconstructing site-specific CpG methylation status from next generation sequencing (NGS) data using methyl-sensitive restriction endonucleases (MSRE)...
2016: Frontiers in Genetics
https://www.readbyqxmd.com/read/27831921/the-effects-of-smoking-and-nicotine-ingestion-on-exercise-heat-tolerance
#14
Amit Druayn, Danit Atias, Itay Ketko, Yoav Cohen-Sivan, Yuval Heled
BACKGROUND: Smoking has a thermogenic effect and is associated with low physical performance. Nevertheless, a direct, quantitative effect of acute smoking on exercise heat tolerance has not been reported. METHODS: Sixteen healthy young male volunteers, eight cigarette smokers, and eight non-smokers participated in the study. All subjects performed a maximal oxygen consumption test (VO2max) and a standardized heat tolerance test (HTT) after at least 12 h without smoking under the following conditions: no nicotine exposure, 10 min after nicotine exposure (2 mg nicotine lozenge), and 10 min after smoking two cigarettes (0...
November 10, 2016: Journal of Basic and Clinical Physiology and Pharmacology
https://www.readbyqxmd.com/read/27826101/serotonin-and-urocortin-1-in-the-dorsal-raphe-and-edinger-westphal-nuclei-after-early-life-stress-in-serotonin-transporter-knockout-rats
#15
Rick H A van der Doelen, Berit Robroch, Ilse A Arnoldussen, Maya Schulpen, Judith R Homberg, Tamás Kozicz
The interaction of early life stress (ELS) and the serotonin transporter (5-HTT) gene-linked polymorphic region (5-HTTLPR) has been associated with increased risk to develop depression in later life. We have used the maternal separation paradigm as a model for ELS exposure in homozygous and heterozygous 5-HTT knockout rats and measured urocortin 1 (Ucn1) mRNA and/or protein levels, Ucn1 DNA methylation, as well as 5-HT innervation in the centrally projecting Edinger-Westphal (EWcp) and dorsal raphe (DR) nuclei, both implicated in the regulation of stress response...
November 5, 2016: Neuroscience
https://www.readbyqxmd.com/read/27820862/fast-to-slow-transition-of-skeletal-muscle-contractile-function-and-corresponding-changes-in-myosin-heavy-and-light-chain-formation-in-the-r6-2-mouse-model-of-huntington-s-disease
#16
Tanja Hering, Peter Braubach, G Bernhard Landwehrmeyer, Katrin S Lindenberg, Werner Melzer
Huntington´s disease (HD) is a hereditary neurodegenerative disease resulting from an expanded polyglutamine sequence (poly-Q) in the protein huntingtin (HTT). Various studies report atrophy and metabolic pathology of skeletal muscle in HD and suggest as part of the process a fast-to-slow fiber type transition that may be caused by the pathological changes in central motor control or/and by mutant HTT in the muscle tissue itself. To investigate muscle pathology in HD, we used R6/2 mice, a common animal model for a rapidly progressing variant of the disease expressing exon 1 of the mutant human gene...
2016: PloS One
https://www.readbyqxmd.com/read/27819008/link-polymorphism-of-5-htt-promoter-region-is-associated-with-autoantibodies-in-patients-with-systemic-lupus-erythematosus
#17
Shu Li, Shuang Liu, Fan Chen, Yuqi Cheng, Ru Bai, Aiyun Lai, Zhaoping Lu, Jian Xu
Serotonin transporter linked polymorphic region (5-HTTLPR) was reported to associate with depression in systemic lupus erythematosus (SLE) patients by our team. To explore whether 5-HTTLPR plays a role in the pathogenesis of SLE, we tested 138 SLE patients and 138 age and sex matched health controls (HCs) for 5-HTTLPR by polymerase chain reaction (PCR) and agarose gel electrophoresis. Interestingly, the results suggest that the frequencies of SS genotype and S allele in SLE patients with positive anti-Sm antibody and anti-U1RNP antibody were both significantly higher than the other genotypes and alleles...
2016: Journal of Immunology Research
https://www.readbyqxmd.com/read/27815841/the-ubiquitin-receptor-adrm1-modulates-hap40-induced-proteasome-activity
#18
Zih-Ning Huang, Lu-Shiun Her
Huntington's disease (HD) is a progressive neurodegenerative disorder caused by an N-terminal expansion of polyglutamine stretch (polyQ) of huntingtin (Htt) protein. HAP40 is a huntingtin-associated protein with unknown cellular functions. Increased HAP40 expression has been reported in the brain of HD patients and HD mouse model. However, the relationship between the elevation of HAP40 and HD etiology remains elusive. In this study, we demonstrated that overexpression of HAP40 enhanced accumulation of mutant Htt aggregates and caused defects in proteasome function...
November 5, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27809764/cross-phenotype-association-tests-uncover-genes-mediating-nutrient-response-in-drosophila
#19
Christopher S Nelson, Jennifer N Beck, Kenneth A Wilson, Elijah R Pilcher, Pankaj Kapahi, Rachel B Brem
BACKGROUND: Obesity-related diseases are major contributors to morbidity and mortality in the developed world. Molecular diagnostics and targets of therapies to combat nutritional imbalance are urgently needed in the clinic. Invertebrate animals have been a cornerstone of basic research efforts to dissect the genetics of metabolism and nutrient response. We set out to use fruit flies reared on restricted and nutrient-rich diets to identify genes associated with starvation resistance, body mass and composition, in a survey of genetic variation across the Drosophila Genetic Reference Panel (DGRP)...
November 4, 2016: BMC Genomics
https://www.readbyqxmd.com/read/27793702/clinical-and-biological-predictors-of-response-to-electroconvulsive-therapy-ect-a-review
#20
REVIEW
Martina Pinna, Mirko Manchia, Rossana Oppo, Filomena Scano, Gianluca Pillai, Anna Paola Loche, Piergiorgio Salis, Gian Paolo Minnai
Electroconvulsive therapy (ECT), developed in the 30's by Bini and Cerletti, remains a key element of the therapeutic armamentarium in psychiatry, particularly for severe and life-threatening psychiatric symptoms. However, despite its well-established clinical efficacy, the prescription of ECT has declined constantly over the years due to concerns over its safety (cognitive side effects) and an increasingly negative public perception. As for other treatments in the field of psychiatry, ECT is well suited to a personalized approach that would increment its efficacy, as well as reducing the impact of side effects...
October 25, 2016: Neuroscience Letters
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