Lipid profiles in a large cohort of Italian children with Down syndrome

Buonuomo, Paola Sabrina; Bartuli, Andrea; Mastrogiorgio, Gerarda; Vittucci, Annachiara; Camillo, Chiara Di; Bianchi, Simona; Marafon, Denise Pires; Villani, Alberto; Valentini, Diletta

doi:10.1016/j.ejmg.2016.06.005

Cited by 22 publications

(27 citation statements)

References 13 publications

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“…DS is associated with several diseases, such as metabolic syndrome, dyslipidemia and hyperinsulinemia [7,8]. The presence of mitochondrial dysfunction could elicit the production of effective stress responses (including HN production).…”

Section: Discussionmentioning

confidence: 99%

Humanin gene expression in fibroblast of Down syndrome subjects

Salemi¹,

Ridolfo²,

Salluzzo³

et al. 2020

Int. J. Med. Sci.

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Down syndrome (DS) is characterized by trisomy of chromosome 21 and peculiar phenotype. Humanin (HN) is a mitochondrial short 24-residue polypeptide whit anti-apoptotic and neuroprotective effects. In this study we evaluated HN protein expression and HN mRNA levels in cultured fibroblasts from DS patients and normal controls. Our results obtained by immunocytochemistry, western-blot and qRT-PCR analysis show a significant HN up-regulation in DS patients. These results confirm previous studies and suggest a role for HN may in the DS phenotype.

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Section: Discussionmentioning

confidence: 99%

Humanin gene expression in fibroblast of Down syndrome subjects

Salemi¹,

Ridolfo²,

Salluzzo³

et al. 2020

Int. J. Med. Sci.

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“…39 As expected, these comorbidities also are frequent in overweight/obese children with DS. 14,18,19 Congenital heart diseases are the main causes of death among young with DS (<20 years old). 40 However, children and adults with DS also experienced excess mortality as the result of other causes, such as cancers, infections, type 2 diabetes, and liver cirrhosis.…”

Section: Discussionmentioning

confidence: 99%

“…[13][14][15] Similarly to children without DS, obesity in children with DS is associated with several diseases including obstructive sleep apnea, 16 orthopedic and gait abnormalities, 17 and metabolic syndrome features such as dyslipidemia and hyperinsulinemia. 14,18,19 Epidemiologic studies found together with the increase in pediatric obesity, an increased prevalence of nonalcoholic fatty liver disease (NAFLD). 20 NAFLD currently is considered the most frequent chronic liver disease worldwide.…”

mentioning

confidence: 99%

Nonalcoholic Fatty Liver Disease in Italian Children with Down Syndrome: Prevalence and Correlation with Obesity-Related Features

Valentini

Alisi

Camillo

et al. 2017

The Journal of Pediatrics

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“…Furthermore, DS subjects are characterized by an impaired lipid metabolism, although this aspect has been less investigated. Published studies report that DS children show higher levels of circulating cholesterol, low-density lipoproteins (LDL), and triglycerides with respect to age-matched controls ( Zamorano et al, 1991 ; Adelekan et al, 2012 ; Buonuomo et al, 2019 ). Less favorable lipid profile in DS would be responsible for their increased risk of developing cerebrovascular events ( Sobey et al, 2015 ; Buonuomo et al, 2019 ) or overweight/obesity ( van Gameren-Oosterom et al, 2012 ; Buonuomo et al, 2019 ).…”

Section: Down Syndrome As a Metabolic Diseasementioning

confidence: 99%

Down Syndrome Is a Metabolic Disease: Altered Insulin Signaling Mediates Peripheral and Brain Dysfunctions

et al. 2020

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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.

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Lipid profiles in a large cohort of Italian children with Down syndrome

Cited by 22 publications

References 13 publications

Humanin gene expression in fibroblast of Down syndrome subjects

Humanin gene expression in fibroblast of Down syndrome subjects

Nonalcoholic Fatty Liver Disease in Italian Children with Down Syndrome: Prevalence and Correlation with Obesity-Related Features

Down Syndrome Is a Metabolic Disease: Altered Insulin Signaling Mediates Peripheral and Brain Dysfunctions

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