Genetic modifiers of Huntington's disease.

摘要: Huntington's disease (HD) is a devastating neurodegenerative disorder that directly affects more than 1 in 10,000 persons Western societies but, as family with long, costly, debilitating course, it has an indirect impact on far greater proportion of the population. Although some palliative treatments are used, no effective treatment exists for preventing clinical onset or delaying its inevitable progression toward premature death, approximately 15 years after diagnosis. involves movement characterized by chorea, well variety psychiatric disturbances and intellectual decline, gradual loss independence. A dire need HD therapies to alleviate suffering costs individual, family, health care system. In past decades, genetics, study DNA sequence variation consequences, provided tools map gene chromosome 4 ultimately identify mutation expanded CAG trinucleotide repeat coding large protein, dubbed huntingtin. Now, advances genetic technology offer unbiased route identification factors disease-modifying agents human patients. Such modifiers expected highlight processes capable altering course therefore provide new, human-validated targets traditional drug development, goal developing rational delay prevent signs.