Publications by authors named "C F Rundsten"
In the Greenlandic Inuit population, 4% are homozygous carriers of a genetic nonsense TBC1D4 p.Arg684Ter variant leading to loss of the muscle-specific isoform of TBC1D4 and an approximately tenfold increased risk of type 2 diabetes. Here we show the metabolic consequences of this variant in four female and four male homozygous carriers and matched controls.
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- Researchers examined genetic factors influencing insulin levels after a glucose challenge in over 55,000 people from different ancestry groups, identifying ten new genetic locations linked to postprandial insulin resistance.
- * They found that many of these loci share genetics with type 2 diabetes, suggesting a common underlying mechanism.
- * The study also highlighted nine candidate genes affecting GLUT4, a key glucose transporter, which plays an important role in glucose uptake during the post-meal state.
Article Synopsis
- Traditional GWAS typically focus on additive allelic effects, which may overlook important recessive gene variants related to complex traits like type 2 diabetes.
- This study conducted the largest GWAS meta-analysis using a recessive model, including over 33,000 diabetes cases and nearly 280,000 controls, identifying 51 associated loci—five of which were previously undetected.
- Notably, one low-frequency variant significantly increased diabetes risk in homozygous carriers and was linked to changes in cholesterol levels and triglycerides, highlighting the importance of using recessive models in genetic research.
Familial Parkinson disease (PD) is associated with rare genetic mutations, but the etiology in most patients with sporadic (s)PD is largely unknown, and the basis for its progression to dementia (sPDD) is poorly characterized. We have identified that loss of IFNβ or IFNAR1, the receptor for IFNα/β, causes pathological and behavioral changes resembling PDD, prompting us to hypothesize that dysregulated genes in IFNβ-IFNAR signaling pathway predispose one to sPD. By transcriptomic analysis, we found defective neuronal IFNβ-IFNAR signaling, including particularly elevated PIAS2 associated with sPDD.
View Article and Find Full Text PDFTissue regeneration requires dynamic cellular adaptation to the wound environment. It is currently unclear how this is orchestrated at the cellular level and how cell fate is affected by severe tissue damage. Here we dissect cell fate transitions during colonic regeneration in a mouse dextran sulfate sodium (DSS) colitis model, and we demonstrate that the epithelium is transiently reprogrammed into a primitive state.
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