Abstract:
:Down syndrome (DS) is the most frequent chromosomal abnormality that causes intellectual disability, resulting from the presence of an extra complete or segment of chromosome 21 (HSA21). In addition, trisomy of HSA21 contributes to altered energy metabolism that appears to be a strong determinant in the development of pathological phenotypes associated with DS. Alterations include, among others, mitochondrial defects, increased oxidative stress levels, impaired glucose, and lipid metabolism, finally resulting in reduced energy production and cellular dysfunctions. These molecular defects seem to account for a high incidence of metabolic disorders, i.e., diabetes and/or obesity, as well as a higher risk of developing Alzheimer's disease (AD) in DS. A dysregulation of the insulin signaling with reduced downstream pathways represents a common pathophysiological aspect in the development of both peripheral and central alterations leading to diabetes/obesity and AD. This is further strengthened by evidence showing that the molecular mechanisms responsible for such alterations appear to be similar between peripheral organs and brain. Considering that DS subjects are at high risk to develop either peripheral or brain metabolic defects, this review will discuss current knowledge about the link between trisomy of HSA21 and defects of insulin and insulin-related pathways in DS. Drawing the molecular signature underlying these processes in DS is a key challenge to identify novel drug targets and set up new prevention strategies aimed to reduce the impact of metabolic disorders and cognitive decline.
journal_name
Front Neuroscijournal_title
Frontiers in neuroscienceauthors
Dierssen M,Fructuoso M,Martínez de Lagrán M,Perluigi M,Barone Edoi
10.3389/fnins.2020.00670subject
Has Abstractpub_date
2020-07-08 00:00:00pages
670eissn
1662-4548issn
1662-453Xjournal_volume
14pub_type
杂志文章,评审abstract:Introduction:Our hands, with their exquisite sensors, work in concert with our sensing brain to extract sensory attributes of objects as we engage in daily activities. One in two people with stroke experience impaired body sensation, with negative impact on hand use and return to previous valued activities. Valid, quan...
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abstract::Gene editing is an attractive potential treatment of inherited retinopathies. However, it often relies on endogenous DNA repair. Retinal DNA repair is incompletely characterized in humans and animal models. We investigated recruitment of the double stranded break (DSB) repair complex of γH2AX and 53bp1 in both develop...
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abstract::Introduction: Changes in the autonomic nervous system due to Obstructive Sleep Apnea (OSA) during the life span have been described. Some pediatric studies have shown cardiovascular effects in children who do not fit the criteria for OSA; namely children with mild sleep disordered breathing. Objective: We investigated...
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