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Sunyoung Choi, Kyu-Man Han, June Kang, Eunsoo Won, Hun Soo Chang, Woo Suk Tae, Kyu Ri Son, Su-Jin Kim, Min-Soo Lee, Byung-Joo Ham
BACKGROUND: The SLC6A15 gene has been identified as a novel candidate gene for major depressive disorder (MDD). It is presumed to be involved in the pathophysiology of MDD through regulation of glutamate transmission in the brain. However, the involvement of this gene in microstructural changes in white matter (WM) tracts remains unclear. We aimed to investigate the influence of a polymorphism of this gene (rs1545853) on the structural integrity of WM tracts in the cortico-limbic network...
2016: PloS One
Gaia De Sanctis, Michela Spinelli, Marco Vanoni, Elena Sacco
BACKGROUND: Cancer cells have an increased demand for amino acids and require transport even of non-essential amino acids to support their increased proliferation rate. Besides their major role as protein synthesis precursors, the two proteinogenic sulfur-containing amino acids, methionine and cysteine, play specific biological functions. In humans, methionine is essential for cell growth and development and may act as a precursor for cysteine synthesis. Cysteine is a precursor for the biosynthesis of glutathione, the major scavenger for reactive oxygen species...
2016: PloS One
S Santarelli, K V Wagner, C Labermaier, A Uribe, C Dournes, G Balsevich, J Hartmann, M Masana, F Holsboer, A Chen, M B Müller, M V Schmidt
Major depression is a multifactorial disease, involving both environmental and genetic risk factors. Recently, SLC6A15 - a neutral amino acid transporter mainly expressed in neurons - was proposed as a new candidate gene for major depression and stress vulnerability. Risk allele carriers for a single nucleotide polymorphism (SNP) in a SLC6A15 regulatory region display altered hippocampal volume, glutamate levels, and hypothalamus-pituitary-adrenal axis activity, all markers associated with major depression...
2016: Stress: the International Journal on the Biology of Stress
Ingo Marenholz, Jorge Esparza-Gordillo, Franz Rüschendorf, Anja Bauerfeind, David P Strachan, Ben D Spycher, Hansjörg Baurecht, Patricia Margaritte-Jeannin, Annika Sääf, Marjan Kerkhof, Markus Ege, Svetlana Baltic, Melanie C Matheson, Jin Li, Sven Michel, Wei Q Ang, Wendy McArdle, Andreas Arnold, Georg Homuth, Florence Demenais, Emmanuelle Bouzigon, Cilla Söderhäll, Göran Pershagen, Johan C de Jongste, Dirkje S Postma, Charlotte Braun-Fahrländer, Elisabeth Horak, Ludmila M Ogorodova, Valery P Puzyrev, Elena Yu Bragina, Thomas J Hudson, Charles Morin, David L Duffy, Guy B Marks, Colin F Robertson, Grant W Montgomery, Bill Musk, Philip J Thompson, Nicholas G Martin, Alan James, Patrick Sleiman, Elina Toskala, Elke Rodriguez, Regina Fölster-Holst, Andre Franke, Wolfgang Lieb, Christian Gieger, Andrea Heinzmann, Ernst Rietschel, Thomas Keil, Sven Cichon, Markus M Nöthen, Craig E Pennell, Peter D Sly, Carsten O Schmidt, Anja Matanovic, Valentin Schneider, Matthias Heinig, Norbert Hübner, Patrick G Holt, Susanne Lau, Michael Kabesch, Stefan Weidinger, Hakon Hakonarson, Manuel A R Ferreira, Catherine Laprise, Maxim B Freidin, Jon Genuneit, Gerard H Koppelman, Erik Melén, Marie-Hélène Dizier, A John Henderson, Young Ae Lee
Eczema often precedes the development of asthma in a disease course called the 'atopic march'. To unravel the genes underlying this characteristic pattern of allergic disease, we conduct a multi-stage genome-wide association study on infantile eczema followed by childhood asthma in 12 populations including 2,428 cases and 17,034 controls. Here we report two novel loci specific for the combined eczema plus asthma phenotype, which are associated with allergic disease for the first time; rs9357733 located in EFHC1 on chromosome 6p12...
2015: Nature Communications
Sara Santarelli, Christian Namendorf, Elmira Anderzhanova, Tamara Gerlach, Benedikt Bedenk, Sebastian Kaltwasser, Klaus Wagner, Christiana Labermaier, Judith Reichel, Jana Drgonova, Michael Czisch, Manfred Uhr, Mathias V Schmidt
Although mental disorders as major depression are highly prevalent worldwide their underlying causes remain elusive. Despite the high heritability of depression and a clear genetic contribution to the disease, the identification of genetic risk factors for depression has been very difficult. The first published candidate to reach genome-wide significance in depression was SLC6A15, a neuronal amino acid transporter. With a reported 1,42 fold increased risk of suffering from depression associated with a single nucleotide polymorphism (SNP) in a regulatory region of SLC6A15, the polymorphism was also found to affect hippocampal morphology, integrity, and hippocampus-dependent memory...
September 2015: Journal of Psychiatric Research
Serena Cuboni, Christian Devigny, Bastiaan Hoogeland, Andrea Strasser, Sebastian Pomplun, Barbara Hauger, Georg Höfner, Klaus T Wanner, Matthias Eder, Armin Buschauer, Florian Holsboer, Felix Hausch
B(0)AT2, encoded by the SLC6A15 gene, is a transporter for neutral amino acids that has recently been implicated in mood and metabolic disorders. It is predominantly expressed in the brain, but little is otherwise known about its function. To identify inhibitors for this transporter, we screened a library of 3133 different bioactive compounds. Loratadine, a clinically used histamine H1 receptor antagonist, was identified as a selective inhibitor of B(0)AT2 with an IC50 of 4 μM while being less active or inactive against several other members of the SLC6 family...
November 26, 2014: Journal of Medicinal Chemistry
Radosław Januchowski, Piotr Zawierucha, Marcin Ruciński, Małgorzata Andrzejewska, Karolina Wojtowicz, Michał Nowicki, Maciej Zabel
Ovarian cancer is characterized by the higher mortality among gynecological cancers. In results of MDR development during chemotherapy cancer cells become resistant to further treatment. Microarray techniques can provide information about MDR development at gene expression level. ABC and SLC transporters are most important proteins responsible for this phenomenon. In this study changes of ABC and SLC genes expression pattern in drugs resistant sublines of the A2780 ovarian cancer cell line were demonstrated...
May 2014: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
Jingzi Wang, Xiaobei Mao, Youwei Zhang, Lijun Xue, Xiaobei Liu, Jian Geng, Lili Ren, Hongju Yu, Longbang Chen, Xiaoyuan Chu
OBJECTIVE: To study the methylation changes in promoter CpG islands induced by low-dose X-ray radiation (LDR). METHODS: Twenty male BALB/c mice were randomly divided into control and fractionated radiation group exposed to 6 MV X-ray for 10 days (0.05 Gy/day). All the mice were sacrificed 2 h after the last radiation on day 10, and blood samples were collected for detecting DNA methylation changes using Roche-NimbleGen mouse DNA methylation 3×720K Promoter Plus CpG Island Array...
February 2014: Nan Fang Yi Ke da Xue Xue Bao, Journal of Southern Medical University
Susan M Mitchell, Jason P Ross, Horace R Drew, Thu Ho, Glenn S Brown, Neil F W Saunders, Konsta R Duesing, Michael J Buckley, Rob Dunne, Iain Beetson, Keith N Rand, Aidan McEvoy, Melissa L Thomas, Rohan T Baker, David A Wattchow, Graeme P Young, Trevor J Lockett, Susanne K Pedersen, Lawrence C Lapointe, Peter L Molloy
BACKGROUND: The development of colorectal cancer (CRC) is accompanied by extensive epigenetic changes, including frequent regional hypermethylation particularly of gene promoter regions. Specific genes, including SEPT9, VIM1 and TMEFF2 become methylated in a high fraction of cancers and diagnostic assays for detection of cancer-derived methylated DNA sequences in blood and/or fecal samples are being developed. There is considerable potential for the development of new DNA methylation biomarkers or panels to improve the sensitivity and specificity of current cancer detection tests...
2014: BMC Cancer
Jana Drgonova, Josefin A Jacobsson, Joan C Han, Jack A Yanovski, Robert Fredriksson, Claude Marcus, Helgi B Schiöth, George R Uhl
Brain pathways, including those in hypothalamus and nucleus of the solitary tract, influence food intake, nutrient preferences, metabolism and development of obesity in ways that often differ between males and females. Branched chain amino acids, including leucine, can suppress food intake, alter metabolism and change vulnerability to obesity. The SLC6A15 (v7-3) gene encodes a sodium-dependent transporter of leucine and other branched chain amino acids that is expressed by neurons in hypothalamus and nucleus of the solitary tract...
2013: PloS One
Carina Quast, Serena Cuboni, Daniel Bader, André Altmann, Peter Weber, Janine Arloth, Simone Röh, Tanja Brückl, Marcus Ising, Anna Kopczak, Angelika Erhardt, Felix Hausch, Susanne Lucae, Elisabeth B Binder
SLC6A15 is a neuron-specific neutral amino acid transporter that belongs to the solute carrier 6 gene family. This gene family is responsible for presynaptic re-uptake of the majority of neurotransmitters. Convergent data from human studies, animal models and pharmacological investigations suggest a possible role of SLC6A15 in major depressive disorder. In this work, we explored potential functional variants in this gene that could influence the activity of the amino acid transporter and thus downstream neuronal function and possibly the risk for stress-related psychiatric disorders...
2013: PloS One
Maria G A Hägglund, Sahar Roshanbin, Erik Löfqvist, Sofie V Hellsten, Victor C O Nilsson, Aniruddha Todkar, Yinan Zhu, Olga Stephansson, Jana Drgonova, George R Uhl, Helgi B Schiöth, Robert Fredriksson
The B(0)AT2 protein is a product of the SLC6A15 gene belonging to the SLC6 subfamily and has been shown to be a transporter of essential branched-chain amino acids. We aimed to further characterize the B(0)AT2 transporter in CNS, and to use Slc6a15 knock out (KO) mice to investigate whether B(0)AT2 is important for mediating the anorexigenic effect of leucine. We used the Slc6a15 KO mice to investigate the role of B(0)AT2 in brain in response to leucine and in particular the effect on food intake. Slc6a15 KO mice show lower reduction of food intake as well as lower neuronal activation in the ventromedial hypothalamic nucleus (VMH) in response to leucine injections compared to wild type mice...
2013: PloS One
Anna Schuhmacher, Leonhard Lennertz, Michael Wagner, Susanne Höfels, Ute Pfeiffer, Vera Guttenthaler, Wolfgang Maier, Astrid Zobel, Rainald Mössner
Major depressive disorder (MDD) is accompanied by both cognitive impairments and a hyperactivity of the hypothalamic-pituitary-adrenocortical (HPA) system, resulting in an enhanced glucocorticoid secretion. Cortisol acts via mineralocorticoid and glucocorticoid receptors densely located in the hippocampus, a brain area that is important regarding cognitive functions and especially memory functions. Recently, a variant (rs1545843) affecting transcription of the human SLC6A15 gene has been associated with depression in a genome-wide association study...
February 2013: International Journal of Neuropsychopharmacology
Martin A Kohli, Susanne Lucae, Philipp G Saemann, Mathias V Schmidt, Ayse Demirkan, Karin Hek, Darina Czamara, Michael Alexander, Daria Salyakina, Stephan Ripke, David Hoehn, Michael Specht, Andreas Menke, Johannes Hennings, Angela Heck, Christiane Wolf, Marcus Ising, Stefan Schreiber, Michael Czisch, Marianne B Müller, Manfred Uhr, Thomas Bettecken, Albert Becker, Johannes Schramm, Marcella Rietschel, Wolfgang Maier, Bekh Bradley, Kerry J Ressler, Markus M Nöthen, Sven Cichon, Ian W Craig, Gerome Breen, Cathryn M Lewis, Albert Hofman, Henning Tiemeier, Cornelia M van Duijn, Florian Holsboer, Bertram Müller-Myhsok, Elisabeth B Binder
Major depression (MD) is one of the most prevalent psychiatric disorders and a leading cause of loss in work productivity. A combination of genetic and environmental risk factors probably contributes to MD. We present data from a genome-wide association study revealing a neuron-specific neutral amino acid transporter (SLC6A15) as a susceptibility gene for MD. Risk allele carrier status in humans and chronic stress in mice were associated with a downregulation of the expression of this gene in the hippocampus, a brain region implicated in the pathophysiology of MD...
April 28, 2011: Neuron
Young-Ho Kim, Han Cheol Lee, Seon-Young Kim, Young Il Yeom, Kyung Ju Ryu, Byung-Hoon Min, Duk-Hwan Kim, Hee Jung Son, Poong-Lyul Rhee, Jae J Kim, Jong Chul Rhee, Hee Cheol Kim, Ho-Kyung Chun, William M Grady, Yong Sung Kim
BACKGROUND: Determination of the profile of genes that are commonly methylated aberrantly in colorectal cancer (CRC) will have substantial value for diagnostic and therapeutic applications. However, there is limited knowledge of the DNA methylation pattern in CRC. MATERIALS AND METHODS: We analyzed the methylation profile of 27,578 CpG sites spanning more than 14,000 genes in CRC and in the adjacent normal mucosa with bead-chip array-based technology. RESULTS: We identified 621 CpG sites located in promoter regions and CpG islands that were greatly hypermethylated in CRC compared to normal mucosa...
August 2011: Annals of Surgical Oncology
S Basit, A Wali, A Aziz, N Muhammad, M Jelani, W Ahmad
Hypotrichosis is a human hereditary hair loss disorder in which affected individuals show sparse to complete absence of hair on scalp and/or on different body parts. To date, at least eight isolated autosomal recessive and dominant forms of hypotrichosis loci have been mapped on different human chromosomes, and the corresponding genes have been identified. Detailed clinical and molecular studies were undertaken of the hereditary hypotrichosis observed in the two consanguineous families (A and B) presented here...
March 2011: Clinical Genetics
Kimberly A Zaia, Richard J Reimer
The SLC6 family of structurally related, Na(+)-dependent transporter proteins is responsible for presynaptic reuptake of the majority of neurotransmitters. Within this family are a number of orphan transporters, including NTT4/XT1 (SLC6A17), a protein first identified over 15 years ago. NTT4/XT1 is expressed exclusively in the nervous system and specifically on synaptic vesicles in glutamatergic and some GABAergic neurons. Despite extensive efforts by a number of groups, no substrate has been reported for NTT4/XT1...
March 27, 2009: Journal of Biological Chemistry
Jana Drgonova, Qing-Rong Liu, F Scott Hall, Rachael M Krieger, George R Uhl
V7-3 (SLC6A15) is the prototype for a gene subfamily whose members have sequence homologies to classical Na+- and Cl(-)-dependent neurotransmitter transporters but display unusual features that include characteristic large fourth extracellular loops. Interest in v7-3 has been increased by the elucidation of its expression in neurons located in cerebral cortex, hippocampus, cerebellum, midbrain and olfactory bulb. To help clarify the role of v7-3 in brain functions, we have created and characterized v7-3 knockout mice...
December 5, 2007: Brain Research
M O'Mara, A Oakley, S Bröer
The Na(+)-dependent transport of neutral amino acids in epithelial cells and neurons is mediated by B(0)-type neutral amino acid transporters. Two B(0)-type amino acid transporters have been identified in the neurotransmitter transporter family SLC6, namely B(0)AT1 (SLC6A19) and B(0)AT2 (SLC6A15). In contrast to other members of this family, B(0)-like transporters are chloride-independent. B(0)AT1 and B(0)AT2 preferentially bind the substrate prior to the Na(+)-ion. The Na(+)-concentration affects the K ( m ) of the substrate and vice versa...
2006: Journal of Membrane Biology
Stefan Bröer
Transporters in the human genome are grouped in solute carrier families (SLC). The SLC6 family is one of the biggest transporter families in the human genome comprising 20 members. It is usually referred to as the neurotransmitter transporter family because its founding members encode transporters for the neurotransmitters GABA, noradrenaline, serotonin and dopamine. The family also includes a number of 'orphan' transporters, the function of which has remained elusive until recently. Identification of the broadly specific neutral amino acid transporter SLC6A19 (also called B(0)AT1) suggested that all orphan transporters may in fact be amino acid transporters...
May 2006: Neurochemistry International
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