Open Access Polyglutamine (PolyQ) Diseases: Genetics to Treatments

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Abstract:

The polyglutamine (polyQ) diseases are a group of neurodegenerative disorders caused by expanded cytosine‐adenine‐guanine (CAG) repeats encoding a long polyQ tract in the respective proteins. To date, a total of nine polyQ disorders have been described: six spinocerebellar ataxias (SCA) types 1, 2, 6, 7, 17; Machado‐Joseph disease (MJD/SCA3); Huntington’s disease (HD); dentatorubral pallidoluysian atrophy (DRPLA); and spinal and bulbar muscular atrophy, X-linked 1 (SMAX1/SBMA). PolyQ diseases are characterized by the pathological expansion of CAG trinucleotide repeat in the translated region of unrelated genes. The translated polyQ is aggregated in the degenerated neurons leading to the dysfunction and degeneration of specific neuronal subpopulations. Although animal models of polyQ disease for understanding human pathology and accessing disease-modifying therapies in neurodegenerative diseases are available, there is neither a cure nor prevention for these diseases, and only symptomatic treatments for polyQ diseases currently exist. Long-term pharmacological treatment is so far disappointing, probably due to unwanted complications and decreasing drug efficacy. Cellular transplantation of stem cells may provide promising therapeutic avenues for restoration of the functions of degenerative and/or damaged neurons in polyQ diseases.

Keywords: Cellular transplantation; Cytosine‐adenine‐guanine (CAG) repeats; Dentatorubral pallidoluysian atrophy (DRPLA); Huntington’s disease (HD); Machado‐Joseph disease (MJD/SCA3); Polyglutamine (polyQ); Spinal and bulbar muscular atrophy; Spinocerebellar ataxias (SCA); X-linked 1 (SMAX1/SBMA)

Document Type: Research Article

DOI: http://dx.doi.org/10.3727/096368914X678454

Affiliations: Department of Pediatrics, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan

Publication date: April 9, 2014

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  • Cell Transplantation publishes original, peer-reviewed research and review articles on the subject of cell transplantation and its application to human diseases. To ensure high-quality contributions from all areas of transplantation, separate section editors and editorial boards have been established. Articles deal with a wide range of topics including physiological, medical, preclinical, tissue engineering, and device-oriented aspects of transplantation of nervous system, endocrine, growth factor-secreting, bone marrow, epithelial, endothelial, and genetically engineered cells, among others. Basic clinical studies and immunological research papers are also featured. To provide complete coverage of this revolutionary field, Cell Transplantation will report on relevant technological advances, and ethical and regulatory considerations of cell transplants. Cell Transplantation is now an Open Access journal starting with volume 18 in 2009, and therefore there will be an inexpensive publication charge, which is dependent on the number of pages, in addition to the charge for color figures. This will allow work to be disseminated to a wider audience and also entitle the corresponding author to a free PDF, as well as prepublication of an unedited version of the manuscript.

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