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Veronica J Cerpa, Yuanming Wu, Eduardo Bravo, Frida A Teran, Rachel S Flynn, George B Richerson
Serotonin (5-HT) neurons contribute to respiratory chemoreception in adult mice, but it is unclear whether they play a similar role in neonatal mice. We studied breathing during development in Lmx1b(f/f/p) mice, which lack 5-HT neurons. From postnatal days 1-7 (P1-P7), ventilation of Lmx1b(f/f/p) mice breathing room air was 50% of WT mice (p < 0.001). By P12, baseline ventilation increased to a level equal to WT mice. In contrast, the hypercapnic ventilatory response (HCVR) of neonatal Lmx1b(f/f/p) and WT mice were equal to each other, but were both much less than adult WT mice...
September 9, 2016: Neuroscience
William C Hilinski, Jonathan R Bostrom, Samantha J England, José L Juárez-Morales, Sarah de Jager, Olivier Armant, Jessica Legradi, Uwe Strähle, Brian A Link, Katharine E Lewis
BACKGROUND: Alterations in neurotransmitter phenotypes of specific neurons can cause imbalances in excitation and inhibition in the central nervous system (CNS), leading to diseases. Therefore, the correct specification and maintenance of neurotransmitter phenotypes is vital. As with other neuronal properties, neurotransmitter phenotypes are often specified and maintained by particular transcription factors. However, the specific molecular mechanisms and transcription factors that regulate neurotransmitter phenotypes remain largely unknown...
2016: Neural Development
Jia Yu, Xueting Li, Junwei Yang, Yanping Wu, Baixiang Li
BACKGROUND Simazine is a triazine herbicide used worldwide in both agricultural and non-agricultural fields that is frequently detected in surface water and groundwater. Due to its widespread use, an increasing amount of research has focused on the potentially serious environmental and health risks. MATERIAL AND METHODS We used Western blotting and real-time quantitative PCR to analyze the effects of simazine on dopamine neuronal development-related factors in MN9D dopaminergic cells. RESULTS The expression of tyrosine hydroxylase (TH) mRNA was significantly increased after treatment with 300 and 600 μmol L-1 simazine after 24 and 48 h...
2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Yutaka Harita, Sachiko Kitanaka, Tsuyoshi Isojima, Akira Ashida, Motoshi Hattori
Nail-patella syndrome (NPS) is an autosomal-dominant disease caused by LMX1B mutations and is characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and iliac horns. Renal involvement is the major determinant of the prognosis for NPS. Patients often present with varying degrees of proteinuria or hematuria, and can occasionally progress to chronic renal failure. Recent genetic analysis has found that some mutations in the homeodomain of LMX1B cause isolated nephropathy without nail, patellar or skeletal abnormality (LMX1B-associated nephropathy)...
July 23, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Hélène Doucet-Beaupré, Catherine Gilbert, Marcos Schaan Profes, Audrey Chabrat, Consiglia Pacelli, Nicolas Giguère, Véronique Rioux, Julien Charest, Qiaolin Deng, Ariadna Laguna, Johan Ericson, Thomas Perlmann, Siew-Lan Ang, Francesca Cicchetti, Martin Parent, Louis-Eric Trudeau, Martin Lévesque
The LIM-homeodomain transcription factors Lmx1a and Lmx1b play critical roles during the development of midbrain dopaminergic progenitors, but their functions in the adult brain remain poorly understood. We show here that sustained expression of Lmx1a and Lmx1b is required for the survival of adult midbrain dopaminergic neurons. Strikingly, inactivation of Lmx1a and Lmx1b recreates cellular features observed in Parkinson's disease. We found that Lmx1a/b control the expression of key genes involved in mitochondrial functions, and their ablation results in impaired respiratory chain activity, increased oxidative stress, and mitochondrial DNA damage...
July 26, 2016: Proceedings of the National Academy of Sciences of the United States of America
Sun Young Kim, Dong-Yeop Shin, Sang-Man Kim, Minyoung Lee, Eun Ju Kim
Aberrant hypermethylation of tumor suppressor genes is known to play an important role in the development of many tumors, and aberrant DNA hypermethylation was recently identified in hematologic malignancies, where it is thought to hold relevance in leukemogenesis. Here, we report that there are differences in the DNA methylation patterns seen in normal peripheral blood and two T-cell leukemia cell lines. We identify nine genes (CLEC4E, CR1, DBC1, EPO, HAL-DOA, IGF2, IL12B, ITGA1, and LMX1B) that are significantly hypermethylated in T-cell leukemias cell lines, and suggest that aberrant hypermethylation of these normally unmethylated genes may induce their transcriptional and expressional silencing...
August 2016: Leukemia Research
Christian Konrads, Stephan Reppenhagen, Piet Plumhoff, Maximilian Rudert, Andre Steinert, Thomas Barthel
INTRODUCTION: Nail-patella-syndrome (NPS) is a rare autosomal-dominant inherited disease with pathologies of nails, skeleton, kidneys, and eyes. Linkage to a mutated gene was found. It codes for the transcription-factor LMX1B. In most cases knees are symptomatic. Patients have hypoplastic patellae, which are laterally subluxated. In those individuals a sagittal trochlear fibrous septum was found, dividing the anterior knee-joint-space. In the literature the etiology and clinical significance of this anatomic abnormality is unclear...
2016: SICOT-J
Soojin Kim, Yangu Zhao, Ja-Myong Lee, Woon Ryoung Kim, Marat Gorivodsky, Heiner Westphal, Dongho Geum
LIM domain-binding protein 1 (Ldb1) is a nuclear cofactor that interacts with LIM homeodomain proteins to form multiprotein complexes that are important for transcription regulation. Ldb1 has been shown to play essential roles in various processes during mouse embryogenesis. To determine the role of Ldb1 in mid- and hindbrain development, we have generated a conditional mutant with a specific deletion of the Ldb1 in the Engrailed-1-expressing region of the developing mid- and hindbrain. Our study showed that the deletion impaired the expression of signaling molecules, such as fibroblast growth factor 8 (FGF8) and Wnt1, in the isthmic organizer and the expression of Shh in the ventral midbrain...
July 1, 2016: Stem Cells and Development
O Figueroa-Silva, A Vicente, A Agudo, C Baliu-Piqué, S Gómez-Armayones, M J Aldunce-Soto, E J Inarejos Clemente, M Navallas Irujo, D Gutiérrez de la Iglesia, M A González-Enseñat
BACKGROUND: Nail-patella syndrome (NPS) is an inherited disease produced by mutations in the LMX1B gene. It is characterized by fingernail dysplasia, hypoplastic or absent patella, dysplasia of the elbows and iliac horns on X-ray. It is useful to know this syndrome since some patients develop nephropathy and eye abnormalities. There are very few accurate descriptions related to this syndrome in the literature. OBJECTIVE: Describe the features of 11 patients with NPS in a paediatric hospital...
September 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
Georg Auburger, Suzana Gispert, Nadine Brehm
Hereditary Parkinson's disease can be triggered by an autosomal dominant overdose of alpha-Synuclein (SNCA) or the autosomal recessive deficiency of PINK1. We recently showed that the combination of PINK1-knockout with overexpression of A53T-SNCA in double mutant (DM) mice potentiates phenotypes and reduces survival. Now we studied brain hemispheres of DM mice at age of 18 months in a hypothesis-free approach, employing a quantitative label-free global proteomic mass spectrometry scan of posttranslational modifications focusing on methyl-arginine...
2016: Parkinson's Disease
Igor Y Iskusnykh, Ekaterina Y Steshina, Victor V Chizhikov
UNLABELLED: The brainstem contains diverse neuronal populations that regulate a wide range of processes vital to the organism. Proper cell-fate specification decisions are critical to achieve neuronal diversity in the CNS, but the mechanisms regulating cell-fate specification in the developing brainstem are poorly understood. Previously, it has been shown that basic helix-loop-helix transcription factor Ptf1a is required for the differentiation and survival of neurons of the inferior olivary and cochlear brainstem nuclei, which contribute to motor coordination and sound processing, respectively...
March 2, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Takao Konomoto, Hideaki Imamura, Mayuko Orita, Etsuko Tanaka, Hiroshi Moritake, Yuji Sato, Shouichi Fujimoto, Yutaka Harita, Satoshi Hisano, Koh-Ichiro Yoshiura, Hiroyuki Nunoi
AIM: Mutations of LMX1B cause nail-patella syndrome, a rare autosomal dominant disorder. Recently, LMX1B R246Q heterozygous mutations were recognised in nephropathy without extrarenal manifestation. The aim of this study was to clarify characteristics of nephropathy caused by R246Q mutation. METHODS: Whole exome sequencing was performed on a large family with nonsyndromic autosomal dominant nephropathy without extrarenal manifestation. Clinical and histological findings of patients with LMX1B mutation were investigated...
September 2016: Nephrology
Nora Szabo, Ronan V Da Silva, Susana G Sotocinal, Jeffrey S Mogil, Artur Kania
No abstract text is available yet for this article.
December 2015: International Journal of Developmental Neuroscience
Hélène Doucet-Beaupré, Siew-Lan Ang, Martin Lévesque
LIM-homeodomain (LIM-HD) proteins are evolutionary conserved developmental transcription factors. LIM-HD Lmx1a and Lmx1b orchestrate complex temporal and spatial gene expression of the dopaminergic pathway, and evidence shows they are also involved in adult neuronal homeostasis. In this review, the multiple roles played by Lmx1a and Lmx1b will be discussed. Controlled Lmx1a and Lmx1b expression and activities ensure the proper formation of critical signaling centers, including the embryonic ventral mesencephalon floor plate and sharp boundaries between lineage-specific cells...
December 21, 2015: FEBS Letters
K C Vadodaria, J Mertens, A Paquola, C Bardy, X Li, R Jappelli, L Fung, M C Marchetto, M Hamm, M Gorris, P Koch, F H Gage
The brain's serotonergic system centrally regulates several physiological processes and its dysfunction has been implicated in the pathophysiology of several neuropsychiatric disorders. While in the past our understanding of serotonergic neurotransmission has come mainly from mouse models, the development of pluripotent stem cell and induced fibroblast-to-neuron (iN) transdifferentiation technologies has revolutionized our ability to generate human neurons in vitro. Utilizing these techniques and a novel lentiviral reporter for serotonergic neurons, we identified and overexpressed key transcription factors to successfully generate human serotonergic neurons...
January 2016: Molecular Psychiatry
Orna Sherf, Limor Nashelsky Zolotov, Keren Liser, Hadas Tilleman, Vukasin M Jovanovic, Ksenija Zega, Marin M Jukic, Claude Brodski
Studying the development of mesodiencephalic dopaminergic (mdDA) neurons provides an important basis for better understanding dopamine-associated brain functions and disorders and is critical for establishing cell replacement therapy for Parkinson's disease. The transcription factors Otx2 and Lmx1b play a key role in the development of mdDA neurons. However, little is known about the genes downstream of Otx2 and Lmx1b in the pathways controlling the formation of mdDA neurons in vivo. Here we report on our investigation of Lmx1b as downstream target of Otx2 in the formation of mdDA neurons...
2015: PloS One
Sophie Nambot, Alice Masurel, Salima El Chehadeh, Anne-Laure Mosca-Boidron, Christel Thauvin-Robinet, Mathilde Lefebvre, Nathalie Marle, Julien Thevenon, Stéphanie Perez-Martin, Véronique Dulieu, Frédéric Huet, Ghislaine Plessis, Joris Andrieux, Pierre-Simon Jouk, Gipsy Billy-Lopez, Charles Coutton, Fanny Morice-Picard, Marie-Ange Delrue, Delphine Heron, Caroline Rooryck, Alice Goldenberg, Pascale Saugier-Veber, Géraldine Joly-Hélas, Patricia Calenda, Paul Kuentz, Sylvie Manouvrier-Hanu, Sophie Dupuis-Girod, Patrick Callier, Laurence Faivre
The increasing use of array-CGH in malformation syndromes with intellectual disability could lead to the description of new contiguous gene syndrome by the analysis of the gene content of the microdeletion and reverse phenotyping. Thanks to a national and international call for collaboration by Achropuce and Decipher, we recruited four patients carrying de novo overlapping deletions of chromosome 9q33.3q34.11, including the STXBP1, the LMX1B and the ENG genes. We restrained the selection to these three genes because the effects of their haploinsufficency are well described in the literature and easily recognizable clinically...
June 2016: European Journal of Human Genetics: EJHG
Mi-Sun Lim, Min-Seop Shin, Soo Young Lee, Yang-Ki Minn, Jeong-Kyu Hoh, Youl-Hee Cho, Dong-Wook Kim, Sang-Hun Lee, Chun-Hyung Kim, Chang-Hwan Park
Directed methods for differentiating human embryonic stem cells (hESCs) into dopaminergic (DA) precursor cells using stromal cells co-culture systems are already well established. However, not all of the hESCs differentiate into DA precursors using these methods. HSF6, H1, H7, and H9 cells differentiate well into DA precursors, but CHA13 and CHA15 cells hardly differentiate. To overcome this problem, we modified the differentiation system to include a co-culturing step that exposes the cells to noggin early in the differentiation process...
2015: PloS One
Guan-Yu Jiang, Meng-Han Dai, Kun Huang, Guo-Dong Chai, Jia-Yin Chen, Ling Chen, Bing Lang, Qing-Xiu Wang, David St Clair, Colin McCaig, Yu-Qiang Ding, Ling Zhang
Acute itch is divided into histamine- and non-histamine-dependent subtypes, and our previous study has shown that activation of ERK signaling in the spinal dorsal horn (SDH) is required selectively for histamine-induced itch sensation. Morphological characteristics of pERK-expressing neurons are required for exploring the mechanism underlying spinal itch sensation. To investigate whether pERK-expressing neurons are supraspinally-projecting neurons, we injected Fluorogold (FG) into the ventrobasal thalamic complex (VB) and parabrachial region, the two major spinal ascending sites in rodents...
2015: Scientific Reports
Z Xu, H Jiang, P Zhong, Z Yan, S Chen, J Feng
Serotonergic (5HT) neurons exert diverse and widespread functions in the brain. Dysfunction of the serotonergic system gives rise to a variety of mental illnesses including depression, anxiety, obsessive compulsive disorder, autism and eating disorders. Here we show that human primary fibroblasts were directly converted to induced serotonergic (i5HT) neurons by the expression of Ascl1, Foxa2, Lmx1b and FEV. The transdifferentiation was enhanced by p53 knockdown and appropriate culture conditions including hypoxia...
January 2016: Molecular Psychiatry
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