Trinucleotide Repeat Protocols (Methods in Molecular Biology, Band 277) - Hardcover

Hardcover

ISBN 10: 1588292436 ISBN 13: 9781588292438

Verlag: Humana, 2004

Inhaltsangabe

Trinucleotide repeats are relatively common in the human genome. These simple repeats have received much attention since epoch-making discoveries were made that particular trinucleotide repeats are expanded in the causal genes of human hereditary neurological disorders. For example, the CGG repeat is expanded in fragile X syndrome at the 5' untranslated region (UTR) of its causal gene. In myotonic dystrophy, it is the CTG repeat that is expanded at the 3' UTR of its causal gene. The CAG repeat was also found expanded in coding regions of the genes responsible for X-linked spinal and bulbar muscular atrophy, Huntington’s disease, spinocerebellar ataxia, and other disorders. On the other hand, expansion of the GAA repeat was identified in the intron of the gene responsible for the Friedreich’s ataxia. For these trinucleotide repeat diseases, the longer the trinucleotide expansion, the earlier the age of onset and the more severe the syndrome. Thus, these findings that showed the intriguing link between a particular trinucleotide expansion and its associated neurological disorders have led to a new field of intensive study. Active research addressing the underlying mechanisms for trinucleotide repeat diseases has employed various approaches ranging from DNA biochemistry to animal models for the diseases. In particular, animal models for the triplet repeat diseases have provided excellent resources not only for understanding the mechanisms but also for exploring therapeutic interventions.

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The discovery that trinucleotide repeats significantly influence the age of onset and severity of a variety of hereditary neurological disorders has opened the door to a deeper understanding of the disease mechanisms involved, as well as to a more productive search for novel therapeutic interventions. In Trinucleotide Repeat Protocols, established leaders in trinucleotide repeat disease describe in step-by-step detail their best techniques for studying trinucleotide pathology at the molecular level. The protocols cover a variety of targets, ranging from DNA and RNA to proteins and whole animals, and focus not only on causal genes, but also on their consequent products, such as transcription factors, neurotransmitter receptors, proteasomes, and mitochondria/oxidation damage. Experimental systems employed include E. coli, yeast, C. elegans, mouse, and generally take a clinical point of view. The authors utilize a wide range of techniques, including gel electrophoresis, quantitative RT-PCR, immunological analysis, antibody usage and its applications, receptor assays using radioisotope handling, gene delivery by virus, brain cell and organotypic cultures, gender dependency, and neuron structure analysis. Each protocol follows the successful Methods in Molecular Biology™ series format, offering step-by-step laboratory instructions, an introduction outlining the principle behind the technique, lists of the necessary equipment and reagents, and tips on troubleshooting and avoiding known pitfalls.
Cutting-edge and highly practical, Trinucleotide Repeat Protocols offers neuroscientists powerful tools to elucidate both normal brain function and the mechanisms of hereditary neurological disease, as well as to develop the next generation of therapies for neuronal genetic diseases.

Details zur Ausgabe

• Verlag: Humana
• Erscheinungsdatum: 2004
• Sprache: Englisch
• ISBN 10: 1588292436
• ISBN 13: 9781588292438
• Einband: Gebundene Ausgabe
• Anzahl der Seiten: 354
• Herausgeber: Kohwi Yoshinori
• Kontakt zum Hersteller: Springer Nature Customer Service Center GmbH; ProductSafety@springernature.com; ; Europaplatz 3; Heidelberg; 69115; Deutschland