ReviewFrontiers in neuroscience2020
Down Syndrome Is a Metabolic Disease: Altered Insulin Signaling Mediates Peripheral and Brain Dysfunctions.
Review in Frontiers in neuroscience, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers.
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Who cites it
67 citing papers in PubMed, 91 citations in OpenAlex.
- A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABAJournal of neurodevelopmental disorders · 2022Trial
- Assessing the Diagnostic Performance of Triglyceride-Glucose-Based Indices for Early Detection of Metabolic Syndrome in Paediatric Down Syndrome.Journal of intellectual disability research : JIDR · 2026Article
- Outcomes of a multidisciplinary lifestyle intervention in adults with Down syndrome : A retrospective observational study.Wiener klinische Wochenschrift · 2026Article
- Metabolomic Profiles in Down Syndrome: A Scoping Review of Convergent and Context-Dependent Patterns.Journal of intellectual disability research : JIDR · 2026Article
- Decreased H3K79 acetylation and dysregulation of neurodevelopmental genes in fetal down syndrome.Translational pediatrics · 2026Article
- Hyperactivation of the cGAS-STING pathway promotes liver inflammation in Down syndrome.Genes and immunity · 2026Article
- A Researcher's guide to rodent models of Down syndrome: Recent insights and translational perspectives.STAR protocols · 2026Review
- Aberrant chromatin remodeling influences human neural cell fate change in Trisomy 21.bioRxiv : the preprint server for biology · 2026Article
- Metabolic breakdown: Linking insulin resistance and mitochondrial dysfunction to neurodegeneration in Alzheimer's disease.Neural regeneration research · 2026Article
- Understanding Obesity in Individuals with Down Syndrome: Caregiver Perceptions, Awareness, and Motivation.Nutrients · 2026Article
- Transcriptomic and proteomic evidence for noncanonical hydrogen sulfide metabolism and immune dysregulation in Down Syndrome.Scientific reports · 2026Article
- Loss of Proteostasis and Early-Onset Neurodegeneration in Down Syndrome: From Mechanisms to Interventions.Antioxidants (Basel, Switzerland) · 2026Review
- Article
- Oxidative stress and insulin resistance in Libyan Down syndrome individuals: assessment and association compared to a healthy comparison group.Pediatric endocrinology, diabetes, and metabolism · 2026Article
- MECP2 Duplication Uncouples Mitochondrial and Purine Metabolism During neuronal maturation.bioRxiv : the preprint server for biology · 2025Article
- Impact of dietary intervention and supplementation on the physiological profile of individuals with down syndrome.Scientific reports · 2025Article
- Investigating the Origins of Biochemical Dysregulation in Trisomy 21 Pregnancy.The Journal of clinical endocrinology and metabolism · 2025Article
- Article
- Pathophysiological Role of Vitamin D Deficiency in Down Syndrome: Insights into Metabolic Dysfunction and Sarcopenia.International journal of molecular sciences · 2025Review
- Multiscale networks in Alzheimer's disease identify brain hypometabolism as central across biological scales.PLoS computational biology · 2025Article
7 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.