• A Genetic Cause of Chronic Intestinal Pseudo-obstruction

A Genetic Cause of Chronic Intestinal Pseudo-obstruction

An inherited form of chronic intestinal pseudo-obstruction (CIPO) is caused by mutations in a transcription factor that disrupt the structure and function of enteric innervation, researchers report in the April issue of Gastroenterology. Elena Bonora et al show that patients with CIPO carry mutations in RAD21 that disrupt the ability of its

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  • Leptin Mutation Causes Early-Onset Extreme Obesity

Leptin Mutation Causes Early-Onset Extreme Obesity

A mutation in the gene encoding the appetite-controlling hormone leptin (LEP) found to cause extreme obesity in a young child, researchers report. Martin Wabitsch et al describe insatiable appetite and early-onset extreme obesity in a 2-year old caused by a homozygous transversion in LEP.  The boy had a high serum

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  • Author Q&A Series: H pylori-associated Gastric Cancer

Author Q&A Series: H pylori-associated Gastric Cancer

Gastric tumors and tissues from humans and mice accumulate somatic mutations in various genes in the gastric mucosa upon Helicobacter pylori infection, researchers report in the August issue of Gastroenterology. In the study, Takahiro Shimizu et al. show that increased cytidine deaminase activity in these tissues promotes the accumulation of these mutations and might

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Fishing for Genes that Cause Biliary Atresia

A study of zebrafish has helped identify a susceptibility gene for biliary atresia, as reported in the May issue of Gastroenterology. Biliary atresia is a progressive fibro-inflammatory disorder of infants that involves the extrahepatic and intrahepatic biliary tree and causes obliteration of the ducts, leading to cholestasis, fibrosis, and cirrhosis.

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What is Intrahepatic Cholangiocarcinoma?

Researchers have found that intrahepatic cholangiocarcinomas (ICCs) are really 2 different groups of tumors, based on molecular and genetic analyses, reported in the April issue of Gastroenterology. These findings identify class-specific mechanisms of oncogenesis that could lead to new treatment approaches for this common liver cancer. Cholangiocarcinoma is the second most

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What are the Risks for Relatives of Patients With Colorectal Cancer?

Close relatives of people with colorectal cancer (CRC) have a significant increase in prevalence of advanced neoplasms and should be screened for cancer, according to the March issue of Gastroenterology. Relatives of patients with CRC have been shown to be at increased risk for colorectal neoplasms, but little is known

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Does Depression Increase the Risk for Inflammatory Bowel Disease?

Depression increases the risk for Crohn’s disease in women, according to a study published in the January issue of Clinical Gastroenterology and Hepatology. Psychological factors might therefore contribute to development of this disorder. Anxiety, depression, and other psychological disorders are common in people with Crohn’s disease (CD) and ulcerative colitis

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What Causes Familial Visceral Myopathy?

A heterozygous variant in enteric smooth muscle actin γ-2 (ACTG2) can cause familial visceral myopathy (FVM), according to the December issue of Gastroenterology. The altered gene product appears to aggregate, rather than form actin filaments, in intestinal smooth muscle cells, disrupting their contraction and reducing bowel motility. FVM is a rare

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Stem Cells Account for Different Fates of Adenomatous and Hyperplastic Polyps

Adenomatous polyps expand the pool of colon stem cells to become malignant, whereas hyperplastic polyps (HPPs) do not, and therefore remain benign, according to a study published in the September issue of Gastroenterology. Many colorectal cancers arise from adenomatous polyps, which contain mutations that inactivate the tumor suppressor APC. These

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Why Do Only Some Gastric Tumors Respond to Therapy?

Tumors from patients with gastric cancer can be divided into subgroups, based on their gene expression pattern. This information can be used to select the best treatment, according to Patrick Tan and colleagues in the August issue of Gastroenterology. Gastric tumors have large, inter-individual differences in aggressiveness, histopathology features, and

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