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Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targets

التفاصيل البيبلوغرافية
العنوان: Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targets
المؤلفون: Gaetano Calì, Rita Genesio, Lucio Nitsch, Maria Barbato, Simona Paladino, Ferdinando Bonfiglio, Antonella Izzo, Maria Nitti, Nunzia Mollo, Rita Cicatiello, Viviana Sarnataro, Anna Conti
المساهمون: Izzo, Antonella, Mollo, Nunzia, Nitti, Maria, Paladino, Simona, Calì, Gaetano, Genesio, Rita, Bonfiglio, Ferdinando, Cicatiello, Rita, Barbato, Maria, Sarnataro, Viviana, Conti, Anna, Nitsch, Lucio
المصدر: Molecular Medicine, Vol 24, Iss 1, Pp 1-8 (2018)
Molecular medicine (Camb. Mass., Print) 24 (2018). doi:10.1186/s10020-018-0004-y
info:cnr-pdr/source/autori:Izzo, Antonella; Mollo, Nunzia; Nitti, Maria; Paladino, Simona; Cali, Gaetano; Genesio, Rita; Bonfiglio, Ferdinando; Cicatiello, Rita; Barbato, Maria; Sarnataro, Viviana; Conti, Anna; Nitsch, Lucio/titolo:Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targets/doi:10.1186%2Fs10020-018-0004-y/rivista:Molecular medicine (Camb. Mass., Print)/anno:2018/pagina_da:/pagina_a:/intervallo_pagine:/volume:24
Molecular Medicine
بيانات النشر: BMC, 2018.
سنة النشر: 2018
مصطلحات موضوعية: 0301 basic medicine, Down syndrome, Disease, Review, Biology, Pathogenesis, lcsh:Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Genetic, Mitochondrial dynamic, Genetics, medicine, Animals, Humans, lcsh:QD415-436, Gene, Molecular Biology, Genetics (clinical), Down syndrome/trisomy of chromosome 21, Animal, lcsh:RM1-950, Down syndrome therapy, medicine.disease, Phenotype, Hypotonia, 3. Good health, Mitochondria, 030104 developmental biology, lcsh:Therapeutics. Pharmacology, Mitochondrial dynamics, Molecular Medicine, medicine.symptom, Down Syndrome, Chromosome 21, Trisomy, Chromosome 21 gene, Mitochondrial dysfunction, 030217 neurology & neurosurgery, Chromosome 21 genes, Human
الوصف: Trisomy of chromosome 21 (TS21) is the most common autosomal aneuploidy compatible with postnatal survival with a prevalence of 1 in 700 newborns. Its phenotype is highly complex with constant features, such as mental retardation, dysmorphic traits and hypotonia, and variable features including heart defects, susceptibility to Alzheimer’s disease (AD), type 2 diabetes, obesity and immune disorders. Overexpression of genes on chromosome-21 (Hsa21) is responsible for the pathogenesis of Down syndrome (DS) phenotypic features either in a direct or in an indirect manner since many Hsa21 genes can affect the expression of other genes mapping to different chromosomes. Many of these genes are involved in mitochondrial function and energy conversion, and play a central role in the mitochondrial dysfunction and chronic oxidative stress, consistently observed in DS subjects. Recent studies highlight the deep interconnections between mitochondrial dysfunction and DS phenotype. In this short review we first provide a basic overview of mitochondrial phenotype in DS cells and tissues. We then discuss how specific Hsa21 genes may be involved in determining the disruption of mitochondrial DS phenotype and biogenesis. Finally we briefly focus on drugs that affect mitochondrial function and mitochondrial network suggesting possible therapeutic approaches to improve and/or prevent some aspects of the DS phenotype.
اللغة: English
تدمد: 1528-3658
1076-1551
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cab7b76d32cf6de5ebae1778c33527f1
http://link.springer.com/article/10.1186/s10020-018-0004-y
حقوق: OPEN
رقم الأكسشن: edsair.doi.dedup.....cab7b76d32cf6de5ebae1778c33527f1
قاعدة البيانات: OpenAIRE
الوصف
تدمد:15283658
10761551