Trinucleotide Repeat Disorders

DOI Web Site 被引用文献67件
  • Harry T. Orr
    Institute of Human Genetics, Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota, 55455;
  • Huda Y. Zoghbi
    Departments of Pediatrics, Molecular and Human Genetics, Neurology, and Neuroscience, Baylor College of Medicine, and Howard Hughes Medical Institute, Houston, Texas 77030;

書誌事項

公開日
2007-07-01
DOI
  • 10.1146/annurev.neuro.29.051605.113042
公開者
Annual Reviews

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説明

<jats:p> The discovery that expansion of unstable repeats can cause a variety of neurological disorders has changed the landscape of disease-oriented research for several forms of mental retardation, Huntington disease, inherited ataxias, and muscular dystrophy. The dynamic nature of these mutations provided an explanation for the variable phenotype expressivity within a family. Beyond diagnosis and genetic counseling, the benefits from studying these disorders have been noted in both neurobiology and cell biology. Examples include insight about the role of translational control in synaptic plasticity, the role of RNA processing in the integrity of muscle and neuronal function, the importance of Fe-S-containing enzymes for cellular energy, and the dramatic effects of altering protein conformations on neuronal function and survival. It is exciting that within a span of 15 years, pathogenesis studies of this class of disorders are beginning to reveal pathways that are potential therapeutic targets. </jats:p>

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