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Lessons from two human chromatin diseases, ICF syndrome and Rett syndrome

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Reference: Abstract: Spatial Organisation of DNA into chromatin profoundly affects gene expression and function. The recent association of genes controlling chromatin structure to human pathologies resulted in a better comprehension of the interplay between regulation and function. Among many chromatin disorders we will discuss Rett and immunodeficiency, centromeric instability and facial anomalies (ICF) syndromes. Both … Read more

The version of Rolando

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Reference: Abstract: Defined as a neurodevelopmental disorder that affects specific maturational processes of nerve cells, the Rett syndrome (RTT) results in impaired brain development and a consequent severe deficiency of the organism.ﾠThe etiology of the syndrome is due to the alteration of the MECP2 gene or other genes linked to it, located on chromosome X.ﾠThis … Read more

The congenital variant of Rett syndrome: clinical description and the autonomic nervous system

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Reference: Abstract: Introduction.ﾠRett syndrome (RTT) is a neurodevelopmental disorder, which is characterized by congenital variant early psychomotor retardation, hypotonia, abnormal EEG, typical absence of initial asymptomatic period.ﾠMaterials and methods.ﾠSample of 7 children with congenital variant of RTT afferite to “regional reference center of Rett Syndrome” Versilia Hospital and the University of Ferrara from 2006 to … Read more

NGF and BDNF: from nerves to adipose tissue, from neurokines to metabokines

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Reference: Abstract: eurotrophins, particularly, NGF and BDNF are now well recognized to mediate a dizzying number of trophobiological effects, ranging from the Rita Levi-Montalciniﾒs neurotrophic through immunotrophic to metabotrophic effects. These are implicated in the pathogenesis of various diseases including neuropsychiatric and cardiometabolic diseases, such as dementia, depression, type 2 diabetes and obesity that may … Read more

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