Epigenetics of Huntington's Disease

Advances in Experimental Medicine and Biology
Silvia BassiMarta Biagioli

Abstract

Huntington's disease (HD) is a genetic, fatal autosomal dominant neurodegenerative disorder typically occurring in midlife with symptoms ranging from chorea, to dementia, to personality disturbances (Philos Trans R Soc Lond Ser B Biol Sci 354:957-961, 1999). HD is inherited in a dominant fashion, and the underlying mutation in all cases is a CAG trinucleotide repeat expansion within exon 1 of the HD gene (Cell 72:971-983, 1993). The expanded CAG repeat, translated into a lengthened glutamine tract at the amino terminus of the huntingtin protein, affects its structural properties and functional activities. The effects are pleiotropic, as huntingtin is broadly expressed in different cellular compartments (i.e., cytosol, nucleus, mitochondria) as well as in all cell types of the body at all developmental stages, such that HD pathogenesis likely starts at conception and is a lifelong process (Front Neurosci 9:509, 2015). The rate-limiting mechanism(s) of neurodegeneration in HD still remains elusive: many different processes are commonly disrupted in HD cell lines and animal models, as well as in HD patient cells (Eur J Neurosci 27:2803-2820, 2008); however, epigenetic-chromatin deregulation, as determined by the analysis of DNA me...Continue Reading

Citations

Apr 4, 2019·EMBO Molecular Medicine·Naohide KondoMasahisa Katsuno
Sep 19, 2018·Alzheimer's & Dementia : Translational Research & Clinical Interventions·Surbhi SharmaMartin R Schiller
Jul 10, 2018·Current Medicinal Chemistry·Christophe BlanquartPhilippe Bertrand
Jun 22, 2018·Current Protocols in Pharmacology·Doodipala Samba ReddyRoderick H Dashwood
Oct 22, 2019·Frontiers in Molecular Biosciences·Havva YalincaAnnalisa Pastore
Oct 16, 2019·Frontiers in Genetics·Manon DuforestelPierre-François Cartron
Jan 31, 2020·Frontiers in Aging Neuroscience·Gurjit Kaur BhattiJasvinder Singh Bhatti
May 1, 2021·International Journal of Molecular Sciences·Balapal S Basavarajappa, Shivakumar Subbanna
May 26, 2021·Journal of Neuroscience Research·Xiaoping TanShuyan Cong
May 6, 2020·Clinical Parkinsonism & Related Disorders·Emilia M GattoClaudia Perandones
Jun 26, 2021·Human Molecular Genetics·James F GusellaMarcy E MacDonald
Aug 28, 2021·International Journal of Molecular Sciences·Amy KimJoana Gil-Mohapel

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