Mitochondrial Dysfunction in Down Syndrome: From Pathology to Therapy

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Mitochondrial dynamics: overview of molecular mechanisms

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Amyloid-β overproduction causes abnormal mitochondrial dynamics via differential modulation of mitochondrial fission/fusion proteins

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Mito-Morphosis: Mitochondrial Fusion, Fission, and Cristae Remodeling as Key Mediators of Cellular Function

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Mitochondrial fission in apoptosis

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Apoptosis and increased generation of reactive oxygen species in Down's syndrome neurons in vitro

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AUTACs: Cargo-Specific Degraders Using Selective Autophagy

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Impaired Mitochondrial Biogenesis Contributes to Mitochondrial Dysfunction in Alzheimer's Disease

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Mitochondria-targeted antioxidants protect against amyloid-β toxicity in Alzheimer's disease neurons

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DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways

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Altered Metabolism of the Amyloid β Precursor Protein Is Associated with Mitochondrial Dysfunction in Down's Syndrome

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“Down syndrome: an insight of the disease”

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Human Cu/Zn Superoxide Dismutase (SOD1) Overexpression in Mice Causes Mitochondrial Vacuolization, Axonal Degeneration, and Premature Motoneuron Death and Accelerates Motoneuron Disease in Mice Expressing a Familial Amyotrophic Lateral Sclerosis Mutant SOD1

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Translating Dosage Compensation to Trisomy 21

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Biology and pathophysiology of the amyloid precursor protein

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Suppression of mitochondrial respiration through recruitment of p160 myb binding protein to PGC-1α: modulation by p38 MAPK

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A mitochondrial etiology of Alzheimer and Parkinson disease

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Mitovesicles are a novel population of extracellular vesicles of mitochondrial origin altered in Down syndrome

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Mitochondrial Biogenesis through Activation of Nuclear Signaling ProteinsPreprint

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Protein SUMOylation modification and its associations with disease

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Mitochondrial dysfunction as a central actor in intellectual disability-related diseases: An overview of Down syndrome, autism, Fragile X and Rett syndrome

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The mtDNA‐encoded ND6 subunit of mitochondrial NADH dehydrogenase is essential for the assembly of the membrane arm and the respiratory function of the enzyme

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CRISPR/Cas9-mediated targeted chromosome elimination

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Adaptive Downregulation of Mitochondrial Function in Down Syndrome

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Overproduction of H 2 S, generated by CBS, inhibits mitochondrial Complex IV and suppresses oxidative phosphorylation in Down syndrome

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Systemic Mitochondrial Dysfunction and the Etiology of Alzheimer's Disease and Down Syndrome Dementia

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Epigallocatechin-3-gallate prevents oxidative phosphorylation deficit and promotes mitochondrial biogenesis in human cells from subjects with Down's syndrome

Valenti, D., Rasmo, D. D., Signorile, A., Rossi, L., Lidia de, B. A. R. I., Scala, I., Granese, B., Papa, S., & Vacca, R. A. (2013) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2012.12.011 · Cited by 144 · see citing works

The reduction of NADH

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Altered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomy

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Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targets

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Cu/Zn-superoxide dismutase and glutathione peroxidase during aging.

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Oxidative stress: A bridge between Down's syndrome and Alzheimer's disease

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The polyphenols resveratrol and epigallocatechin-3-gallate restore the severe impairment of mitochondria in hippocampal progenitor cells from a Down syndrome mouse model

Valenti, D., Lidia de, B. A. R. I., Rasmo, D. D., Signorile, A., Henrion‐Caude, A., Contestabile, A., & Vacca, R. A. (2016) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2016.03.003 · Cited by 128 · see citing works

Decreased levels of complex III core protein 1 and complex V β chain in brains from patients with Alzheimer’s disease and Down syndrome

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mTOR hyperactivation in Down Syndrome underlies deficits in autophagy induction, autophagosome formation, and mitophagy

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Mitochondrial dysfunction and tau hyperphosphorylation in Ts1Cje, a mouse model for Down syndrome

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SUMOylation Attenuates the Function of PGC-1α

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Neurodegeneration from mitochondrial insufficiency: nutrients, stem cells, growth factors, and prospects for brain rebuilding using integrative management.

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Metformin restores the mitochondrial network and reverses mitochondrial dysfunction in Down syndrome cells

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Chronic pro-oxidative state and mitochondrial dysfunctions are more pronounced in fibroblasts from Down syndrome foeti with congenital heart defects

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Mitochondria as pharmacological targets in Down syndrome

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Down syndrome : advances in biomedicine and the behavioral sciences

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Impairment of F1F0-ATPase, adenine nucleotide translocator and adenylate kinase causes mitochondrial energy deficit in human skin fibroblasts with chromosome 21 trisomy

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Protein expression of BACE1, BACE2 and APP in Down syndrome brains

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S100B and APP Promote a Gliocentric Shift and Impaired Neurogenesis in Down Syndrome Neural Progenitors

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RCAN1 overexpression promotes age-dependent mitochondrial dysregulation related to neurodegeneration in Alzheimer’s disease

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Part I: Clinical Practice Guidelines for Children With Down Syndrome From Birth to 12 Years

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Plasma and urinary metabolomic profiles of Down syndrome correlate with alteration of mitochondrial metabolism

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Exercise-induced PGC-1α transcriptional factors in skeletal muscle

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Part II: Clinical Practice Guidelines for Adolescents and Young Adults With Down Syndrome: 12 to 21 Years

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Increased mitochondrial superoxide generation in neurons from trisomy 16 mice: a model of Down’s syndrome

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Down Syndrome Critical Region 1 Gene, Rcan1 , Helps Maintain a More Fused Mitochondrial Network

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Chronic Expression of RCAN1-1L Protein Induces Mitochondrial Autophagy and Metabolic Shift from Oxidative Phosphorylation to Glycolysis in Neuronal Cells

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Altered Ca2+Signaling and Mitochondrial Deficiencies in Hippocampal Neurons of Trisomy 16 Mice: A Model of Down’s Syndrome

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NRIP1/RIP140 siRNA-mediated attenuation counteracts mitochondrial dysfunction in Down syndrome

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Transcriptional Dysregulation in Down Syndrome: Predictions for Altered Protein Complex Stoichiometries and Post-translational Modifications, and Consequences for Learning/Behavior Genes ELK, CREB, and the Estrogen and Glucocorticoid Receptors

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Neuroimaging assessment in Down syndrome: a pictorial review

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Nrf2 stabilization prevents critical oxidative damage in Down syndrome cells

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Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions

Sobol, M., Klar, J., Laan, L., Shahsavani, M., Schuster, J., Annerén, G., Konzer, A., Mi, J., Bergquist, J., Nordlund, J., et al. (2019) · Molecular Neurobiology · doi:10.1007/s12035-019-1585-3 · Cited by 58 · see citing works

Overexpression of FABP7 in Down syndrome fetal brains is associated with PKNOX1 gene-dosage imbalance

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Trisomy silencing by XIST normalizes Down syndrome cell pathogenesis demonstrated for hematopoietic defects in vitro

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Intracellular Oxidant Activity, Antioxidant Enzyme Defense System, and Cell Senescence in Fibroblasts with Trisomy 21

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Coenzyme Q10 (Ubiquinol-10) Supplementation Improves Oxidative Imbalance in Children With Trisomy 21

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Mitochondrial alterations and tendency to apoptosis in peripheral blood cells from children with Down syndrome

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Roles of transcriptional corepressor RIP140 and coactivator PGC-1α in energy state of chronically infarcted rat hearts and mitochondrial function of cardiomyocytes

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Bioenergetic relevance of hydrogen sulfide and the interplay between gasotransmitters at human cystathionine β-synthase

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Mitochondrial dysfunction in mouse trisomy 16 brain

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MiR-144-3p and Its Target Gene β-Amyloid Precursor Protein Regulate 1-Methyl-4-Phenyl-1,2-3,6-Tetrahydropyridine-Induced Mitochondrial Dysfunction

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Inhibition of Drp1-mediated mitochondrial fission improves mitochondrial dynamics and bioenergetics stimulating neurogenesis in hippocampal progenitor cells from a Down syndrome mouse model

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Aberrant Neuronal and Mitochondrial Proteins in Hippocampus of Transgenic Mice Overexpressing Human Cu/Zn Superoxide Dismutase 1

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The human mitochondrial elongation factor tu (EF-Tu) gene: cDNA sequence, genomic localization, genomic structure, and identification of a pseudogene

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Plasma metabolites related to cellular energy metabolism are altered in adults with Down syndrome and Alzheimer's disease

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Mitochondrial fragmentation and network architecture in degenerative diseases

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Overexpression of Chromosome 21 miRNAs May Affect Mitochondrial Function in the Hearts of Down Syndrome Fetuses

Izzo, A., Manco, R., de Cristofaro, T., Bonfiglio, F., Cicatiello, R., Mollo, N., Martino, M. D., Genesio, R., Zannini, M., Conti, A. M. F., et al. (2017) · International Journal of Genomics · doi:10.1155/2017/8737649 · Cited by 37 · see citing works

Candidate genes for Alzheimer's disease are associated with individual differences in plasma levels of beta amyloid peptides in adults with Down syndrome

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Defective Mitochondrial Function In Vivo in Skeletal Muscle in Adults with Down’s Syndrome: A 31P-MRS Study

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Green tea EGCG plus fish oil omega-3 dietary supplements rescue mitochondrial dysfunctions and are safe in a Down's syndrome child

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Constitutional and Acquired Autosomal Aneuploidy

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RCAN1 Regulates Mitochondrial Function and Increases Susceptibility to Oxidative Stress in Mammalian Cells

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Down syndrome is an oxidative phosphorylation disorder

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Pknox1/Prep1 Regulates Mitochondrial Oxidative Phosphorylation Components in Skeletal Muscle

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Pioglitazone Improves Mitochondrial Organization and Bioenergetics in Down Syndrome Cells

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Melatonin and Elimination of Kynurenines in Children with Down's Syndrome

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Impaired Brain Mitochondrial Bioenergetics in the Ts65Dn Mouse Model of Down Syndrome Is Restored by Neonatal Treatment with the Polyphenol 7,8-Dihydroxyflavone

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Cytoplasmic abnormalities in cultured cerebellar neurons from the trisomy 16 mouse

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Metabolic and Growth Rate Alterations in Lymphoblastic Cell Lines Discriminate Between Down Syndrome and Alzheimer’s Disease

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Pre- and post-natal melatonin administration partially regulates brain oxidative stress but does not improve cognitive or histological alterations in the Ts65Dn mouse model of Down syndrome

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Differential display reveals deteriorated mRNA levels of NADH3 (complex I) in cerebellum of patients with Down Syndrome

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Efficiency of the Glycolytic Pathway in Erythrocytes of Children with Down's Syndrome

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Prep1 regulates angiogenesis through a PGC‐1α‐mediated mechanism

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Oxidant production and SOD1 protein expression in single skeletal myofibers from Down syndrome mice

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Red blood cell glucose metabolism in Down's syndrome.

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Evidence of Energy Metabolism Alterations in Cultured Neonatal Astrocytes Derived from the Ts65Dn Mouse Model of Down Syndrome

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Effect of oxidative stress on respiratory epithelium from children with Down syndrome

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Mitochondrial dysfunction and oxidative stress in Alzheimer's disease–A step towards mitochondria based therapeutic strategies

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Brain Mitochondrial Bioenergetics in Genetic Neurodevelopmental Disorders: Focus on Down, Rett and Fragile X Syndromes

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Shaping down syndrome brain cognitive and molecular changes due to aging using adult animals from the Ts66Yah murine model

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Biochemical Screening for Fetal Trisomy 21: Pathophysiology of Maternal Serum Markers and Involvement of the Placenta

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Molecular and cellular processes disrupted in the early postnatal Down syndrome prefrontal cortex

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Mitochondrial transplantation: Triumphs, challenges, and impacts on nuclear genome remodelling

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Enhancing protein O-GlcNAcylation in down syndrome mice mitigates memory dysfunctions through the rescue of mitochondrial bioenergetics, stress responses and pathological markers

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Autophagy is a promising process for linking inflammation and redox homeostasis in Down syndrome

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Kynurenine pathway metabolite alterations in Down syndrome and Alzheimer's disease

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TransPhoM-DS Study Grant Report: Rationale and Protocol for Investigating the Efficacy of Low-Power Transcranial Photobiomodulation on Language, Executive Function, Attention, and Memory in Down Syndrome

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Intricacies of aging and Down syndrome

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Mitochondrial Imbalance in Down Syndrome: A Driver of Accelerated Brain Aging?

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Mitochondrial dynamics in neurodevelopment and neurodevelopmental disorders

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SOD1 Is an Integral Yet Insufficient Oxidizer of Hydrogen Sulfide in Trisomy 21 B Lymphocytes and Can Be Augmented by a Pleiotropic Carbon Nanozyme

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The proteostasis burden of aneuploidy

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Premature Aging in Aneuploid Yeast is Caused in Part by Aneuploidy-Induced Defects in Ribosome Quality ControlPreprint

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Development of Alzheimer’s disease in Down syndrome

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The Translocase of the Outer Mitochondrial Membrane (TOM40) is required for mitochondrial dynamics and neuronal integrity in Dorsal Root Ganglion Neurons

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Role of cystathionine-β-synthase and hydrogen sulfide in down syndrome

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Synergistic mitochondrial impairment by endogenously elevated cyanide and hydrogen sulfide in Down syndrome; commentary on: Cyanide overproduction impairs cellular bioenergetics in Down syndrome

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Proteome Signature of Alzheimer-Like Phenotypes in Frontal Cortices From Young and Old Individuals With Down Syndrome

Domenico, F. D., Greco, V., Tramutola, A., Rataj-Baniowska, M., Barone, E., Lanzillotta, C., Pieroni, L., Butterfield, D. A., Hérault, Y., Pagnotta, S. E., et al. (2025) · Molecular Neurobiology · doi:10.1007/s12035-025-05432-0 · Cited by 3 · see citing works

Integration of Transcriptomics and Metabolomics Reveals the Antitumor Mechanism of Protopanaxadiol Triphenylphosphate Derivative in Non-Small-Cell Lung Cancer

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Epigenetic Control of Hyperuricemia and Gout by Gene Writer DNMT1 and RNA Editor ADAR1: Mechanism of Gout and Amyloid Dissolution in Down Syndrome

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Reversing intellectual disabilities in Down syndrome: Hopes or hypes?

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Precision pharmacology of CNS GPCRs: From biased signaling to translational therapeutics

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Revisiting down syndrome through the lens of interferonopathy and innate immune dysregulation

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Chromosome duplication causes premature aging via defects in ribosome quality control

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Interferon receptor gene dosage differentially regulates hypoxia-induced platelet activation and pulmonary hypertension in down syndrome

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Performance and Pacing Profiles of Competitive Track Events for Elite Athletes With Intellectual Impairment With and Without Additional Significant Impairments

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Cerebral oxygenation during submaximal and peak exercise for sedentary adults with and without down syndrome

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Cognitive and molecular characterization of the Ts66Yah murine model of Down syndrome: deepening on hippocampal changes associated with genotype and agingPreprint

Lanzillotta, C., Rataj-Baniowska, M., Prestia, F., Sette, C., Nalesso, V., Marzia Perluigi, A., Barone, E., Duchon, A., Tramutola, A., Hérault, Y., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.01.02.573811

Realizing the potential of exploiting human IPSCs and their derivatives in research of Down syndrome

Wang, Y., Ni, J., LIU, Y., Liao, D.-Y., Zhou, Q., Ji, X., NIU, G., & Ni, Y. (2023) · Biocell · doi:10.32604/biocell.2023.043781

Human Models of Down Syndrome

Jandy, M., Hu, H., Liu, Y., & Bhattacharyya, A. (2025) · Springer eBooks · doi:10.1007/978-3-031-78611-2_7

Oxidative stress in Down syndrome: unraveling the intertwined pathways for novel target identification

Lim, C.-W., Hamid, H. A., Ling, K., & Cheah, P.-S. (2025) · Current Opinion in Physiology · doi:10.1016/j.cophys.2025.100864

Alterations in Resident Immune Cells in Prenatal Trisomy 21 Lungs

Frauenpreis, A., Bhattacharya, S., Belgacemi, R., Sokolskiy, P., Deutsch, G. H., Jendzjowsky, N. G., Glass, I. A., Mariani, T. J., Alam, D. A., & Danopoulos, S. (2025) · Cells · doi:10.3390/cells14231866

Dysregulation of RUNX1 isoforms drives mitochondrial defects during neural differentiation in down syndrome

Liu, Y.-N., Cai, Q., Li, K., Li, W., He, G., Zeng, F., & Yan, J. (2025) · Mitochondrion · doi:10.1016/j.mito.2025.102108

Genome-wide cell type-specific and sex-specific transcriptional dysregulation in the islet of Langerhans underlies islet dysfunction in Down syndrome-related diabetesPreprint

Sethna, C. R., Niemes, M. D. C. M., Waters, B. J., Wagner, M. R., Smith, J., Nimkulrat, S. D., Lemanski, J., Pintozzi, N. G., Sardo, V. L., & Blum, B. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.03.12.711435

Orchestrating mitochondrial protein import: The emerging role of DYRK1A in health and disease

Shankar, S., & Meisinger, C. (2026) · Protein Science · doi:10.1002/pro.70631

Caregiver-Associated Physical Activity Patterns, Dietary Behaviors and Interventional Beliefs in Individuals with Down Syndrome: Insights from a Large European Survey

Cahill, T., Nalesso, V., Clarke, P., de Lagrán, M. M., Strydom, A., Li, C., Potier, M., Beckers, J., Langohr, K., Lió, P., et al. (2026) · Nutrients · doi:10.3390/nu18111692

Molecular Pathogenesis of Down Syndrome (Trisomy 21)

Tlekhatuk, Z. I., Sutiagina, V. M., Linchevsky, A. A., Pushnova, A. S., Polyakov, P. P., Zanin, S. A., Владимирович, Ц. О., Naumenko, D. A., & Akhrorova, M. S. (2026) · Innovative medicine of Kuban · doi:10.35401/2541-9897-2026-11-2-140-146

Dysregulated calcium signaling underlies hyposalivation and microbial dysbiosis in Down syndrome

Son, G., Bomfim, G. H. S., Xu, F., Thomas, S. C., Rosenberg, K., Kim, T., Rice, E., Budjab, E., Jones, R., Wang, Y., et al. (2026) · Cell Reports · doi:10.1016/j.celrep.2026.117619

Metformin improves mitophagy-related pathways and mitochondrial-lysosomal homeostasis in chromosome 21 trisomic fibroblasts

Mollo, N., NATALE, R., D'Ariano, M., Coppola, S., Meglio, D. D., Limone, A., Calı̀, G., D’Agostino, C., Pastore, N., Sarnataro, D., et al. (2026) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-026-06355-2

Overexpression of centromere-localized IFIT3 impairs mitochondrial function and disrupts cellular proliferation and cell cycle progression in down syndrome

Zhou, P., Liu, Y., Lei, C., Zeng, F., & Yan, J.-B. (2026) · Frontiers in Genetics · doi:10.3389/fgene.2026.1904151

Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targets

Izzo, A., Mollo, N., Nitti, M. P., Paladino, S., Calı̀, G., Genesio, R., Bonfiglio, F., Cicatiello, R., Barbato, M., Sarnataro, V., et al. (2018) · Molecular Medicine · doi:10.1186/s10020-018-0004-y · Cited by 143 · see citing works

Mitochondrial Abnormalities in Down Syndrome: Pathogenesis, Effects and Therapeutic Approaches

Izzo, A., Mollo, N., Cicatiello, R., Genesio, R., Paladino, S., Conti, A. M. F., & Nitsch, L. (2018) · InTech eBooks · doi:10.5772/intechopen.71059 · Cited by 3 · see citing works

Disarrayed mitochondrial function on pathobiology in Down syndrome and targeted therapeutics

Ganguly, B. B. (2022) · Elsevier eBooks · doi:10.1016/b978-0-323-90456-8.00001-6 · Cited by 1 · see citing works

Mitochondria as pharmacological targets in Down syndrome

Valenti, D., Braidy, N., Rasmo, D. D., Signorile, A., Rossi, L., Atanasov, A. G., Volpicella, M., Henrion‐Caude, A., Nabavi, S. M., & Vacca, R. A. (2017) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2017.08.014 · Cited by 96 · see citing works

Triplication of HSA21 on alterations in structure and function of mitochondria

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