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JCI early table of contents for Oct. 8, 2013

2013-10-08
(Press-News.org) Researchers link decreased estrogen-related receptor activity to eating disorder predisposition

Eating disorders such as anorexia nervosa and bulimia nervosa are considered to be the result of genetic predisposition and environmental risk factors. Despite eating disorders being common to families, no definitive genetic basis for disease predisposition has been identified. In this issue of the Journal of Clinical Investigation, Michael Lutter and colleagues at the University of Iowa identified genetic mutations in two separate families affected by eating disorders that were linked to the same transcriptional pathway. The researchers determined that a mutation in the gene encoding the transcription factor estrogen-related receptor α (ERRSA) correlated with eating disorder development in one family and a mutation in gene encoding the transcriptional repressor histone deacetylase 4 (HDAC4) associated with eating disorders in the second family. The mutant forms of both ERRSA and HDAC4 resulted in reduced expression of known ERRSA-dependent genes. These findings indicate that individuals with mutations that reduce ESRRA activity have an increased risk of developing eating disorders.

TITLE: Eating disorder predisposition is associated with ESRRA and HDAC4 mutations

AUTHOR CONTACT: Michael Lutter
The University of Iowa Carver College of Medicine, Iowa City, IA, USA
Phone: 319-383-3101; E-mail: michael-lutter@uiowa.edu

View this article at: http://www.jci.org/articles/view/71400?key=a5d68b1eb02b5b744cf6



Early-onset lumbar disc degeneration-associated mutation identified

Lumbar disc degeneration (LDD) is characterized by pain in the lumbar region of the spine as a result of a compromised disc. LDD is fairly common and thought to be the result of both environmental and genetic risk factors; however, the genetic factors that promote LDD are largely unknown. In this issue of the Journal of Clinical Investigation, Danny Chan and colleagues at the University of Hong Kong found mutations that reduced production of carbohydrate sulfotransferase 3 (CHST3) were associated with early-onset LDD. Mutations in families with LDD were mapped to the 3' untranslated region of the CHST3 gene, which contained a microRNA binding site. The authors determined that LDD-associated mutations in the 3' untranslated region enhanced microRNA binding, resulting in decreased CHST3 expression. Furthermore, patients with early-onset LDD had decreased CHST3 mRNA levels in interevertebral discs. This study indicates that LDD development can be predicted by decreased CHST3 expression.

TITLE: Lumbar disc degeneration is linked to a carbohydrate sulfotransferase 3 variant

AUTHOR CONTACT: Danny Chan
The University of Hong Kong, Hong Kong, , CHN
Phone: +852-28199482; Fax: +852-28551254; E-mail: chand@hku.hk

View this article at: http://www.jci.org/articles/view/69277?key=b9c471a7a29b24516318



ALSO IN THIS ISSUE

TITLE: Myelodysplastic syndromes are induced by histone methylation–altering ASXL1 mutations

AUTHOR CONTACT: Toshio Kitamura
Institute of Medical Science, University of Tokyo, Tokyo, UNK, JPN
Phone: 81-3-5449-5758; Fax: 81-3-5449-5760; E-mail: kitamura@ims.u-tokyo.ac.jp

View this article at: http://www.jci.org/articles/view/70739?key=afcaf91b7ba4aa84d3a5

TITLE: A microenvironment-mediated c-Myc/miR-548m/HDAC6 amplification loop in non-Hodgkin B cell lymphomas

AUTHOR CONTACT: Jianguo Tao
H. Lee Moffitt Cancer Center & Research Institute, tampa, FL, USA
Phone: 813-7453885; E-mail: jianguo.tao@moffitt.org

View this article at: http://www.jci.org/articles/view/64210?key=148bdd53bc4bb0b473de

TITLE: Interferon-dependent IL-10 production by Tregs limits tumor Th17 inflammation

AUTHOR CONTACT: Giorgio Trinchieri
Center for Cancer Research, National Cancer Institute, Frederick, MD, USA
Phone: 3018461323; Fax: 301-846-1673; E-mail: trinchig@mail.nih.gov

View this article at: http://www.jci.org/articles/view/65180?key=c4c9da1c0e21ca38fbae

TITLE: Combined modulation of polycomb and trithorax genes rejuvenates β cell replication

AUTHOR CONTACT: Anil Bhushan
Larry Hillblom Islet Research Center, Los Angeles, CA, USA
Phone: 310 206 5750; E-mail: ABhushan@mednet.ucla.edu

View this article at: http://www.jci.org/articles/view/69468?key=e5e98e7a761132788c18

TITLE: Peptidases released by necrotic cells control CD8+ T cell cross-priming

AUTHOR CONTACT: Tim Greten
National Cancer Institute, NIH, Bethesda, MD, USA
Phone: (301) 451-4723; Fax: (301) 480-8780; E-mail: im.greten@nih.gov

View this article at: http://www.jci.org/articles/view/65698?key=642a5f8b1f89ba06d1c3

TITLE: Isoprenylcysteine carboxylmethyltransferase deficiency exacerbates KRAS-driven pancreatic neoplasia via Notch suppression

AUTHOR CONTACT: Mark Philips
New York University School of Medicine, New York, NY, USA
Phone: 212 263-7404; Fax: 212 263-9210; E-mail: philim01@med.nyu.edu

View this article at: http://www.jci.org/articles/view/65764?key=65d034ee76dad1f2d0a4

TITLE: Th9 cell development requires a BATF-regulated transcriptional network

AUTHOR CONTACT: Mark H. Kaplan
Indiana University School of Medicine, Indianapolis, IN, USA
Phone: 317 278 3696; E-mail: mkaplan2@iupui.edu

View this article at: http://www.jci.org/articles/view/69489?key=3c88e805f6ed07896075

INFORMATION:

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ELSE PRESS RELEASES FROM THIS DATE:

Researchers link decreased estrogen-related receptor activity to eating disorder predisposition

2013-10-08
Eating disorders such as anorexia nervosa and bulimia nervosa are considered to be the result of genetic predisposition and environmental risk factors. Despite eating disorders being common to families, no definitive genetic basis for disease predisposition has been identified. In this issue of the Journal of Clinical Investigation, Michael Lutter and colleagues at the University of Iowa identified genetic mutations in two separate families affected by eating disorders that were linked to the same transcriptional pathway. The researchers determined that a mutation ...

Early-onset lumbar disc degeneration-associated mutation identified

2013-10-08
Lumbar disc degeneration (LDD) is characterized by pain in the lumbar region of the spine as a result of a compromised disc. LDD is fairly common and thought to be the result of both environmental and genetic risk factors; however, the genetic factors that promote LDD are largely unknown. In this issue of the Journal of Clinical Investigation, Danny Chan and colleagues at the University of Hong Kong found mutations that reduced production of carbohydrate sulfotransferase 3 (CHST3) were associated with early-onset LDD. Mutations in families with LDD were mapped to the ...

Adherence to the 'Guidelines for Management of Severe Traumatic Brain Injury' saves lives

2013-10-08
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2013-10-08
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2013-10-08
WASHINGTON, DC—New combinations of postoperative pain treatment decreased both pain and the use of narcotic pain relievers according to two studies presented this week at the 2013 Clinical Congress of the American College of Surgeons. One pain treatment utilized the simple but nonstandard application of ice packs after major abdominal operations in patients, and the other treatment was a prolonged drug delivery method using nanotechnology in animals. Past research has shown that postoperative pain is often undertreated.* The standard pain treatment after most major operations ...

2 genes linked to increased risk for eating disorders

2013-10-08
Eating disorders like anorexia nervosa and bulimia often run in families, but identifying specific genes that increase a person's risk for these complex disorders has proved difficult. Now scientists from the University of Iowa and University of Texas Southwestern Medical Center have discovered -- by studying the genetics of two families severely affected by eating disorders -- two gene mutations, one in each family, that are associated with increased risk of developing eating disorders. Moreover, the new study shows that the two genes interact in the same signaling ...

Terrestrial ecosystems at risk of major shifts as temperatures increase

2013-10-08
Over 80% of the world's ice-free land is at risk of profound ecosystem transformation by 2100, a new study reveals. "Essentially, we would be leaving the world as we know it," says Sebastian Ostberg of the Potsdam Institute for Climate Impact Research, Germany. Ostberg and collaborators studied the critical impacts of climate change on landscapes and have now published their results in Earth System Dynamics, an open access journal of the European Geosciences Union (EGU). The researchers state in the article that "nearly no area of the world is free" from the risk of climate ...

More than 500 million people might face increasing water scarcity

2013-10-08
This is shown by complementary studies now published by scientists of the Potsdam Institute for Climate Impact Research (PIK). "We managed to quantify a number of crucial impacts of climate change on the global land area," says Dieter Gerten, lead-author of one of the studies. Mean global warming of 2 degrees, the target set by the international community, is projected to expose an additional 8 percent of humankind to new or increased water scarcity. 3.5 degrees – likely to occur if national emissions reductions remain at currently pledged levels – would affect 11 percent ...

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2013-10-08
CHAMPAIGN, Ill. — Scientists report in Nature Communications that they have engineered yeast to consume acetic acid, a previously unwanted byproduct of the process of converting plant leaves, stems and other tissues into biofuels. The innovation increases ethanol yield from lignocellulosic sources by about 10 percent. Lignocellulose is the fibrous material that makes up the structural tissues of plants. It is one of the most abundant raw materials on the planet and, because it is rich in carbon it is an attractive source of renewable biomass for biofuels production. The ...

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[Press-News.org] JCI early table of contents for Oct. 8, 2013