Huntingtin: Difference between revisions
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Ivan Šonský (talk | contribs) No edit summary |
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== Function == | == Function == | ||
Since the discovery of HTT and its relevance to HD, efforts have been made to understand the physiological functions of wild-type huntingtin. However, an integrative understanding of its biological functions is still lacking. Many studies suggest that HTT is essential for cell survival and thereby its loss of function caused by the mutation is source for the neurodegeneration. Although it does, up to a certain degree, add to the disease phenotype, it is now generally believed that the main source of the disease is not the loss of its physiological functions, but the gain of function associated with polyQ expansion. | Since the discovery of HTT and its relevance to HD, efforts have been made to understand the physiological functions of wild-type huntingtin. However, an integrative understanding of its biological functions is still lacking. Many studies suggest that HTT is essential for cell survival and thereby its loss of function caused by the mutation is source for the neurodegeneration. Although it does, up to a certain degree, add to the disease phenotype, it is now generally believed that the main source of the disease is not the loss of its physiological functions, but the gain of function associated with the polyQ expansion. | ||
