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Whole Exome Sequencing Identifies RAI1 Mutation in a Morbidly Obese Child Diagnosed with ROHHAD Syndrome

May 17, 2015

Abstract The current obesity epidemic is attributed to complex interactions between genetic and environmental factors. However, a limited number of cases, especially those with early-onset severe obesity, are linked to single gene defects. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD) is one of the syndromes that presents with abrupt-onset extreme weight gain with an unknown genetic basis. To identify the underlying genetic etiology in a child with morbid early-onset obesity, hypoventilation, and autonomic and behavioral disturbances who was clinically diagnosed with ROHHAD syndrome. This publication highlights the potential overlap between ROHHAD syndrome and Smith-Magenis syndrome (SMS) and … Read More »

Categories: Publications Tags: Harvard Medical School

Vitamin D Metabolites and Bone Mineral Density: The Multi-Ethnic Study of Atherosclerosis

May 11, 2015

Abstract Previous studies demonstrate associations of low 25-hydroxyvitamin D (25(OH)D) concentrations with low bone mineral density (BMD) and fractures, motivating widespread use of vitamin D supplements for bone health. However, previous studies have been limited to predominantly White populations despite differences in the distribution and metabolism of 25(OH)D by race/ethnicity. We determined associations of serum 25(OH)D, 24,25-dihydroxyvitamin D (24,25(OH2)D3), and parathyroid hormone (PTH) with BMD among 1773 adult participants in the Multi-Ethnic Study of Atherosclerosis (MESA) in a staggered cross-sectional study design. Vitamin D metabolites were measured using liquid chromatography-mass spectroscopy and PTH using a 2-site immunoassay from serum collected … Read More »

Categories: Publications Tags: University of Washington

In Vivo Structure-Function Studies of Human Hepatic Lipase

April 30, 2015

Abstract The lean body weight phenotype of hepatic lipase (HL)-deficient mice (hl(-/-)) suggests that HL is required for normal weight gain, but the underlying mechanisms are unknown. HL plays a unique role in lipoprotein metabolism performing bridging as well as catalytic functions, either of which could participate in energy homeostasis. To determine if both the catalytic and bridging functions or the catalytic function alone are required for the effect of HL on body weight, we studied (hl(-/-)) mice that transgenically express physiologic levels of human (h)HL (with catalytic and bridging functions) or a catalytically-inactive (ci)HL variant (with bridging function only) … Read More »

Categories: Publications Tags: University of Washington

Appetite-Regulating Neural Pathway Identified

April 27, 2015

A team including NIDDK (and Boston NORC) researchers discovered a neural circuit that controls appetite in the brains of mice. Using a wide array of multidisciplinary techniques, the team found that neurons interacting with a specific receptor in a part of the brain called the hypothalamic paraventricular nucleus and the signals of those neurons to another part of the brain – the lateral parabrachial nucleus – regulate food consumption. Temporarily switching off these neurons in mice that are full makes the mice eat as though they were hungry, while turning them on reduces food consumption in hungry mice as though … Read More »

Categories: News Tags: Boston

Islet 1 Specifies the Identity of Hypothalamic Melanocortin Neurons and is Critical for Normal Food Intake and Adiposity in Adulthood

April 14, 2015

Abstract Food intake and body weight regulation depend on a group of hypothalamic neurons that release satiety-induced neuropeptides known as melanocortins. Central melanocortins are encoded by the proopiomelanocortin gene (Pomc), and mice and humans carrying deleterious mutations in the Pomc gene display hyperphagia and severe obesity. Although the importance of these neurons is well understood, the genetic program that establishes hypothalamic melanocortin neurons and maintains normal Pomc expression levels remains unknown. Here, we combined molecular neuroanatomical and biochemical analyses with functional genetic studies in transgenic mice and zebrafish and discovered that the transcription factor Islet 1 determines the identity of … Read More »

Categories: Publications Tags: University of Michigan

Pennington Study Tests What Role Diet, Exercise Play in Infertility, Ovarian Cysts

April 6, 2015

One of the most common causes of infertility in women may be cured with exercise or a healthy diet. Researchers at the Pennington Biomedical Research Center are testing whether walking on a treadmill and eating better work as a treatment for polycystic ovarian syndrome, a disorder that causes cysts to form on a woman’s ovaries and raises the risk of type 2 diabetes and other diseases. The disorder is usually treated with expensive medications or fertility treatments, said Leanne Redman, an associate professor at Pennington. “Most women cannot afford fertility treatments, which is what’s needed for many couples affected by … Read More »

Categories: News Tags: Pennington Biomedical Research Center

Effects of Murine Norovirus on Atherosclerosis in Ldlr Mice Depends on Timing of Infection

April 1, 2015

Abstract We previously reported that murine norovirus (MNV), a virus prevalent in United States research institutions, increased atherosclerotic lesion size in Ldlr(-/-) mice when the mice were infected 8 wk after feeding an atherogenic diet. To determine whether the timing of MNV infection relative to atherosclerosis development altered the disease phenotype and to examine potential mechanisms by which MNV influences the disease process, we fed Ldlr(-/-) mice an atherogenic diet for 16 wk. Three days after initiating the atherogenic diet, half of the mice received MNV4 and the other half vehicle only (clarified cell-culture lysate; controls). Both groups of mice … Read More »

Categories: Publications Tags: University of Washington

Pennington STARCH Study

March 5, 2015

Pennington Biomedical Research Center in Baton Rouge is always working on some way to improve your diet. Their latest is known as the ‘STARCH Study’. The goal of the clinical trial is to determine the effect of slowly digesting starch on gut bacteria, sugar and fat metabolism, hunger hormones and body fat in people with pre-diabetes. Participants eat two servings of blueberry yogurt each day, while researchers measure changes to bacteria levels in the large intestine. Those who’ve participated say it works. “I was pre-diabetic, so I wanted to take precautions before anything else happened in my life that would … Read More »

Categories: News, Videos Tags: Pennington Biomedical Research Center

Maximal Oxidative Capacity During Exercise is Associated with Skeletal Muscle Fuel Selection and Dynamic Changes in Mitochondrial Protein Acetylation

March 3, 2015

Abstract Maximal exercise-associated oxidative capacity is strongly correlated with health and longevity in humans. Rats selectively bred for high running capacity (HCR) have improved metabolic health and are longer-lived than their low-capacity counterparts (LCR). Using metabolomic and proteomic profiling, we show that HCR efficiently oxidize fatty acids (FAs) and branched-chain amino acids (BCAAs), sparing glycogen and reducing accumulation of short- and medium-chain acylcarnitines. HCR mitochondria have reduced acetylation of mitochondrial proteins within oxidative pathways at rest, and there is rapid protein deacetylation with exercise, which is greater in HCR than LCR. Fluxomic analysis of valine degradation with exercise demonstrates a … Read More »

Categories: Publications Tags: University of Michigan

Plasma Biomarker of Dietary Phytosterol Intake

February 10, 2015

Abstract Dietary phytosterols, plant sterols structurally similar to cholesterol, reduce intestinal cholesterol absorption and have many other potentially beneficial biological effects in humans. Due to limited information on phytosterol levels in foods, however, it is difficult to quantify habitual dietary phytosterol intake (DPI). Therefore, we sought to identify a plasma biomarker of DPI. Citation Lin X, Racette SB, Ma L, Wallendorf M, Spearie CA, Ostlund RE Jr. Plasma biomarker of dietary phytosterol intake. PLoS One. 2015 Feb 10;10(2):e0116912. PMID: 25668184; PMCID: PMC4323197. Read More PLoS One Research Details Research Center: Washington University, St. Louis

Categories: Publications Tags: Washington University St. Louis