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Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học quốc tế cung cấp cho các bạn kiến thức về ngành y đề tài: Connecting the dots in Huntington’s disease with protein interaction networks. | Minireview Connecting the dots in Huntington s disease with protein interaction networks Flaviano Giorgini and Paul J Muchowski 4 Addresses Department of Pharmacology and The Center for Neurogenetics and Neurotherapeutics University of Washington Seattle WA 98195 UsA. Correspondence Paul J Muchowski. E-mail mucho@u.washington.edu Published 28 February 2005 Genome Biology 2005 6 210 The electronic version of this article is the complete one and can be found online at http genomebiology.com 2005 6 3 210 2005 BioMed Central Ltd Abstract Analysis of protein-protein interaction networks is becoming important for inferring the function of uncharacterized proteins. A recent study using this approach has identified new proteins and interactions that might be involved in the pathogenesis of the neurodegenerative disorder Huntington s disease including a GTPase-activating protein that co-localizes with protein aggregates in Huntington s disease patients. Huntington s disease HD is an autosomal dominant neuro-degenerative disorder characterized by motor dysfunction cognitive impairment and psychiatric abnormalities. It is the most prevalent among at least nine related inherited neuro-degenerative diseases that involve expansion of CAG repeats that encode polyglutamine polyQ tracts. In the case of HD an expanded CAG repeat in the gene IT-15 leads to an expansion of the polyQ region in the protein huntingtin Htt 1 . Beyond a critical threshold of about 37 glutamines this leads to the hallmarks of HD aggregation of mutant Htt in insoluble neuronal inclusion bodies and specific degeneration of neurons in the cerebral cortex and striatum. Although HD has been investigated intensively by many researchers since IT-15 was cloned no pharmacological treatment is yet available that effectively prevents progression of disease in patients in large part because of a lack of understanding of the pathological mechanisms of the disease. Most evidence indicates that mutant Htt exerts its .
