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Mount Sinai, United States

Chess A.,Friedman Brain Institute
Nature Reviews Genetics

Although random monoallelic expression has been known for decades to affect genes on the X chromosome in female placental mammals, until a few years ago it was thought that there were few autosomal genes that were regulated in this manner. New tools for assaying gene expression genome-wide are now revealing that there are perhaps more genes that are subject to random monoallelic expression on mammalian autosomes than there are on the X chromosome and that these expression properties are achieved by diverse molecular mechanisms. This mode of expression has the potential to have an impact on natural selection and on the evolution of gene families. © 2012 Macmillan Publishers Limited. All rights reserved. Source

Blumberg J.B.,Tufts University | Ding E.L.,Harvard University | Dixon R.,University of North Texas | Pasinetti G.M.,Friedman Brain Institute | And 3 more authors.
Advances in Nutrition

Over the past 20 y, evidence derived from in vitro experiments, animal models, observational studies, and clinical interventions have suggested that cacao (cocoa) flavonoids act through a variety of mechanisms to modify a number of risk factors associated with chronic conditions, including cardiovascular and neurodegenerative diseases. Recent studies have elucidated the synthesis of flavonoids by plants, making available for research specific flavonoids and their metabolites. The body of evidence suggesting that cocoa flavanols may play a role in reducing the risk of cardiovascular disease has been sufficient to generate several systematic reviews and meta-analyses. Studies are now being directed to identify the molecular pathways underlying the effect of cocoa flavanols, and clinical trials are being planned to test their impact on disease endpoints. © 2014 American Society for Nutrition. Source

Nordsletten A.E.,Kings College London | Reichenberg A.,Kings College London | Reichenberg A.,Friedman Brain Institute | Hatch S.L.,Kings College London | And 4 more authors.
British Journal of Psychiatry

Background: Hoarding disorder is typified by persistent difficulties discarding possessions, resulting in significant clutter that obstructs the individual's living environment and produces considerable functional impairment. The prevalence of hoarding disorder, as defined in DSM-5, is currently unknown. Aims: To provide a prevalence estimate specific to DSM-5 hoarding disorder and to delineate the demographic, behavioural and health features that characterise individuals with the disorder. Method: We conducted a two-wave epidemiological study of 1698 adult individuals, originally recruited via the South East London Community Health (SELCoH) study. Participants screening positively for hoarding difficulties in wave 1, and who agreed to be re-contacted for wave 2 (n = 99), underwent in-home psychiatric interviews and completed a battery of self-report questionnaires. Current DSM-5 diagnoses were made via consensus diagnostic procedure. Results: In total, 19 individuals met DSM-5 criteria for hoarding disorder at the time of interview, corresponding to a weighted prevalence of 1.5% (95% CI 0.7-2.2). Those with hoarding disorder were older and more often unmarried (67%). Members of this group were also more likely to be impaired by a current physical health condition (52.6%) or comorbid mental disorder (58%), and to claim benefits as a result of these issues (47.4%). Individuals with hoarding disorder were also more likely to report lifetime use of mental health services, although access in the past year was less frequent. Conclusions: With a lower-bound prevalence of approximately 1.5%, hoarding disorder presents as a condition that affects people of both genders and is associated with substantial adversity. Source

Gacias M.,Friedman Brain Institute | Casaccia P.,Friedman Brain Institute | Casaccia P.,Mount Sinai School of Medicine
Multiple Sclerosis and Related Disorders

Multiple sclerosis is a disease characterized by inflammatory demyelination, axonal degeneration and progressive brain atrophy. Most of the currently available disease modifying agents proved to be very effective in managing the relapse rate, however progressive neuronal damage continues to occur and leads to progressive accumulation of irreversible disability. For this reason, any therapeutic strategy aimed at restoration of function must take into account not only immunomodulation, but also axonal protection and new myelin formation. We further highlight the importance of an holistic approach, which considers the variability of therapeutic responsiveness as the result of the interplay between genetic differences and the epigenome, which is in turn affected by gender, age and differences in life style including diet, exercise, smoking and social interaction. © 2013 Elsevier B.V. Source

Uppal N.,Mount Sinai School of Medicine | Uppal N.,Friedman Brain Institute | Uppal N.,Seaver Autism Center for Research and Treatment | Uppal N.,The New School | And 12 more authors.
Journal of Neuropathology and Experimental Neurology

The anterior cingulate cortex, which is involved in cognitive and affective functioning, is important in investigating disorders in which individuals exhibit impairments in higher-order functions. In this study, we examined the anterior midcingulate cortex (aMCC) at the cellular level in patients with autism and in controls. We focused our analysis on layer V of the aMCC because it contains von Economo neurons, specialized cells thought to be involved in emotional expression and focused attention. Using a stereologic approach, we determined whether there were neuropathologic changes in von Economo neuron number, pyramidal neuron number, or pyramidal neuron size between diagnostic groups. When the groups were subdivided into young children and adolescents, pyramidal neuron and von Economo neuron numbers positively correlated with autism severity in young children, as measured by the Autism Diagnostic Interview-Revised. Young children with autism also had significantly smaller pyramidal neurons than their matched controls. Because the aMCC is involved in decision-making during uncertain situations, decreased pyramidal neuron size may reflect a potential reduction in the functional connectivity of the aMCC. © 2014 by the American Association of Neuropathologists, Inc. Source

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