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Yun Tae Hwang, Solange Mabel Aliaga, Marta Arpone, David Francis, Xin Li, Belinda Chong, Howard Robert Slater, Carolyn Rogers, Lesley Bretherton, Matthew Hunter, Robert Heard, David Eugeny Godler
CGG repeat expansion >200 within FMR1, termed full mutation (FM), has been associated with promoter methylation, consequent silencing of gene expression and fragile X syndrome (FXS)-a common cause of intellectual disability and co-morbid autism. Unmethylated premutation (55-199 repeats) and FM alleles have been associated with fragile X related tremor/ataxia syndrome (FXTAS), a late onset neurodegenerative disorder. Here we present a 33-year-old male with FXS, with white matter changes and progressive deterioration in gait with cerebellar signs consistent with probable FXTAS; there was no evidence of any other cerebellar pathology...
October 1, 2016: American Journal of Medical Genetics. Part A
Tamami Wakabayashi, Ryo Hidaka, Shin Fujimaki, Makoto Asashima, Tomoko Kuwabara
Neurogenesis occurs throughout adulthood in the mammalian brain. Neural stem cells (NSCs) exist in three distinct areas of the brain: the subventricular zone, the olfactory bulb, and the dentate gyrus of the hippocampus. MicroRNAs (miRNAs) are small noncoding RNA molecules that posttranscriptionally regulate gene expression. Epigenetic regulation of gene expression, which includes DNA methylation and histone modification, plays a significant role in modulating NSC proliferation and differentiation. However, the functions of miRNAs in neurogenesis are just beginning to be understood...
2014: Advances in Genetics
Boris Kantor, Thomas McCown, Paola Leone, Steven J Gray
Diseases of the central nervous system (CNS) have traditionally been the most difficult to treat by traditional pharmacological methods, due mostly to the blood-brain barrier and the difficulties associated with repeated drug administration targeting the CNS. Viral vector gene transfer represents a way to permanently provide a therapeutic protein within the nervous system after a single administration, whether this be a gene replacement strategy for an inherited disorder or a disease-modifying protein for a disease such as Parkinson's...
2014: Advances in Genetics
Boris Kantor, Rachel M Bailey, Keon Wimberly, Sahana N Kalburgi, Steven J Gray
Gene transfer is an increasingly utilized approach for research and clinical applications involving the central nervous system (CNS). Vectors for gene transfer can be as simple as an unmodified plasmid, but more commonly involve complex modifications to viruses to make them suitable gene delivery vehicles. This chapter will explain how tools for CNS gene transfer have been derived from naturally occurring viruses. The current capabilities of plasmid, retroviral, adeno-associated virus, adenovirus, and herpes simplex virus vectors for CNS gene delivery will be described...
2014: Advances in Genetics
Ka-To Shum, John J Rossi
Gene therapy carries the promise of cures for many diseases based on manipulating the expression of a person's genes toward the therapeutic goal. The relevance of noncoding oligonucleotides to human disease is attracting widespread attention. Noncoding oligonucleotides are not only involved in gene regulation, but can also be modified into therapeutic tools. There are many strategies that leverage noncoding oligonucleotides for gene therapy, including small interfering RNAs, antisense oligonucleotides, aptamers, ribozymes, decoys, and bacteriophage phi 29 RNAs...
2015: Advances in Genetics
Takeshi Suda, Dexi Liu
Hydrodynamic delivery (HD) is a broadly used procedure for DNA and RNA delivery in rodents, serving as a powerful tool for gene/protein drug discovery, gene function analysis, target validation, and identification of elements in regulating gene expression in vivo. HD involves a pressurized injection of a large volume of solution into a vasculature. New procedures are being developed to satisfy the need for a safe and efficient gene delivery in clinic. Here, we summarize the fundamentals of HD, its applications, and future perspectives for clinical use...
2015: Advances in Genetics
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