Genetic modifiers of Huntington's disease.
Identifieur interne : 000569 ( Main/Exploration ); précédent : 000568; suivant : 000570Genetic modifiers of Huntington's disease.
Auteurs : James F. Gusella [États-Unis] ; Marcy E. Macdonald ; Jong-Min LeeSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Nerve Tissue Proteins.
- genetics : Huntington Disease, Trinucleotide Repeats.
- methods : Genetic Therapy.
- therapy : Huntington Disease.
- Humans.
Abstract
Huntington's disease (HD) is a devastating neurodegenerative disorder that directly affects more than 1 in 10,000 persons in Western societies but, as a family disorder with a long, costly, debilitating course, it has an indirect impact on a far greater proportion of the population. Although some palliative treatments are used, no effective treatment exists for preventing clinical onset of the disorder or for delaying its inevitable progression toward premature death, approximately 15 years after diagnosis. Huntington's disease involves a movement disorder characterized by chorea, as well as a variety of psychiatric disturbances and intellectual decline, with a gradual loss of independence. A dire need exists for effective HD therapies to alleviate the suffering and costs to the individual, family, and health care system. In past decades, genetics, the study of DNA sequence variation and its consequences, provided the tools to map the HD gene to chromosome 4 and ultimately to identify its mutation as an expanded CAG trinucleotide repeat in the coding sequence of a large protein, dubbed huntingtin. Now, advances in genetic technology offer an unbiased route to the identification of genetic factors that are disease-modifying agents in human patients. Such genetic modifiers are expected to highlight processes capable of altering the course of HD and therefore to provide new, human-validated targets for traditional drug development, with the goal of developing rational treatments to delay or prevent onset of HD clinical signs.
DOI: 10.1002/mds.26001
PubMed: 25154728
Affiliations:
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Le document en format XML
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<affiliation wicri:level="2"><nlm:affiliation>Molecular Neurogenetics Unit, Department of Neurology and Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Molecular Neurogenetics Unit, Department of Neurology and Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
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<author><name sortKey="Macdonald, Marcy E" sort="Macdonald, Marcy E" uniqKey="Macdonald M" first="Marcy E" last="Macdonald">Marcy E. Macdonald</name>
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<author><name sortKey="Lee, Jong Min" sort="Lee, Jong Min" uniqKey="Lee J" first="Jong-Min" last="Lee">Jong-Min Lee</name>
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<affiliation wicri:level="2"><nlm:affiliation>Molecular Neurogenetics Unit, Department of Neurology and Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.</nlm:affiliation>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<term>Nerve Tissue Proteins (genetics)</term>
<term>Trinucleotide Repeats (genetics)</term>
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<front><div type="abstract" xml:lang="en">Huntington's disease (HD) is a devastating neurodegenerative disorder that directly affects more than 1 in 10,000 persons in Western societies but, as a family disorder with a long, costly, debilitating course, it has an indirect impact on a far greater proportion of the population. Although some palliative treatments are used, no effective treatment exists for preventing clinical onset of the disorder or for delaying its inevitable progression toward premature death, approximately 15 years after diagnosis. Huntington's disease involves a movement disorder characterized by chorea, as well as a variety of psychiatric disturbances and intellectual decline, with a gradual loss of independence. A dire need exists for effective HD therapies to alleviate the suffering and costs to the individual, family, and health care system. In past decades, genetics, the study of DNA sequence variation and its consequences, provided the tools to map the HD gene to chromosome 4 and ultimately to identify its mutation as an expanded CAG trinucleotide repeat in the coding sequence of a large protein, dubbed huntingtin. Now, advances in genetic technology offer an unbiased route to the identification of genetic factors that are disease-modifying agents in human patients. Such genetic modifiers are expected to highlight processes capable of altering the course of HD and therefore to provide new, human-validated targets for traditional drug development, with the goal of developing rational treatments to delay or prevent onset of HD clinical signs.</div>
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<country name="États-Unis"><region name="Massachusetts"><name sortKey="Gusella, James F" sort="Gusella, James F" uniqKey="Gusella J" first="James F" last="Gusella">James F. Gusella</name>
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