Epigenetic Mistakes in Neurodevelopmental Disorders

被引:0
作者
Giuseppina Mastrototaro
Mattia Zaghi
Alessandro Sessa
机构
[1] San Raffaele Hospital,Division of Neuroscience
来源
Journal of Molecular Neuroscience | 2017年 / 61卷
关键词
Epigenetics; Neurodevelopmental disorders; Intellectual disability ;
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学科分类号
摘要
Epigenetics is the array of the chromatin modifications that customize in cell-, stage-, or condition-specific manner the information encloses in plain DNA molecules. Increasing evidences suggest the importance of epigenetic mechanisms for development and maintenance of central nervous system. In fact, a large number of newly discovered genetic causes of neurodevelopmental disorders such as intellectual disability, autism spectrum disorders, and many other syndromes are mutations within genes encoding for chromatin remodeling enzymes. Here, we review recent findings on the epigenetic origin of human diseases, with emphasis on disorders that affect development of the nervous system, and discuss novel therapeutic avenues that target epigenetic mechanisms.
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页码:590 / 602
页数:12
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  • [1] Adamo A(2015)7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages Nat Genet 47 132-141
  • [2] Atashpaz S(1999)Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 Nature Genet 23 185-188
  • [3] Germain PL(2013)Hippocampal dysfunction in the Euchromatin histone methyltransferase 1 heterozygous knockout mouse model for Kleefstra syndrome Hum Mol Genet 22 852-866
  • [4] Zanella M(2000)Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA Biochemistry 39 7100-7106
  • [5] D’Agostino G(2009)Epigenetic inactivation of the Soto’s overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma Proc Natl Acad Sci U S A 106 21830-21835
  • [6] Albertin V(2014)Disruptive CHD8 mutations define a subtype of autism early in development Cell 158 263-276
  • [7] Chenoweth J(2014)Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome Sci Transl Med 6 256ra135-211
  • [8] Micale L(2013)Unmasking Kabuki syndrome Clin Genet 83 201-101
  • [9] Fusco C(2015)Histone modifications controlling native and induced neural stem cell identity Curr Opin Genet Dev 34 95-400
  • [10] Unger C(1995)Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15 Nat Genet 9 395-1427