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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 ...

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2013-10-08
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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 ...

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2013-10-08
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2013-10-08
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[Press-News.org] JCI early table of contents for Oct. 8, 2013