• How Can We Study Genetic Heterogeneity Within Hepatocellular Carcinomas?

How Can We Study Genetic Heterogeneity Within Hepatocellular Carcinomas?

Researchers have developed a patient-derived cell line-based model to study how intratumor heterogeneity affects sensitivity of hepatocellular carcinoma (HCC) to different therapeutic agents, reported in the January issue of Gastroenterology. HCCs have a large amount of genetic heterogeneity within each tumor, making them difficult to treat. Multiple regions of tumors

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  • Researchers Identify Individuals Resilient to Severe Mendelian Childhood Diseases

Researchers Identify Individuals Resilient to Severe Mendelian Childhood Diseases

A genomic analysis of more than half a million people identified 13 individuals who appear to remain healthy despite carrying genetic mutations linked to severe childhood diseases. Although the biological reasons for this resilience are not yet understood, the study provides a first step toward identification of genetic variants that

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  • What Loci Determine Susceptibility to IBD in African Americans?

What Loci Determine Susceptibility to IBD in African Americans?

Although many of the same genetic variants determine susceptibility to inflammatory bowel diseases (IBD) in Caucasians and African Americans, researchers report the identification of variants and loci not previously associated with IBD in African American populations. Analyses of these could provide insight into the pathogenesis of IBD, researchers state in

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  • What Gene Mutations Cause Familial Colorectal Cancers?

What Gene Mutations Cause Familial Colorectal Cancers?

Mutations in the DNA repair gene, FAN1, cause some inherited forms of colorectal cancer (CRC), researchers report in the September issue of Gastroenterology. Identification of another gene associated with this hereditary cancer will facilitate management of patients with family histories of cancer. Germline mutations in EPCAM, APC, MUTYH, POLE, POLD1, GREM1,

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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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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 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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