Despite gaps in our understanding of the biology that underlies this neurodegenerative condition, potential treatments are on the horizon.
Nature Outlook |
There is fresh hope for treating Huntington’s disease, an inherited neurodegenerative condition that causes uncontrollable movements, emotional disturbance and the loss of mental abilities. But biological mysteries remain.
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Even as new treatments loom, researchers are still trying to understand what goes wrong inside the cells of people with the genetic disorder.
With a family history of the condition, Mark Newnham makes a tough decision to find out what his future could hold.
Antisense oligonucleotides are providing researchers and patients with fresh hope of targeting the condition’s genetic cause.
Gene editing offers the prospect of curing the inherited neurodegenerative condition in a single dose.
Roche in partnership with Ionis Pharmaceuticals is committed to supporting the needs of the community living with Huntington’s disease (HD) and developing treatments for those affected by this devastating disease. We invited journalist and HD patient advocate Charles Sabine to give his perspective at an event organized at Roche in recognition of World Rare Disease Day 2018.
Although it usually affects people in middle age, the inherited neurodegenerative condition can also develop in children and teenagers.
Determining suitable endpoints for clinical trials will help researchers to develop better treatments for the progressive neurological condition.
Although potential treatments are now entering the pipeline, the molecular cause and progression of Huntington’s disease continue to elude researchers.
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The gene that causes a devastating neurodegenerative disease may also have been critical in the evolution of our species
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Striatal neurons directly converted from Huntington’s disease patient fibroblasts recapitulate age-associated disease phenotypes
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Huntingtin (HTT) is a large protein, essential for embryonic development and involved in diverse cellular activities such as vesicular transport, endocytosis, autophagy and transcription regulation. The large number of HTT interactors that have been identified suggests that HTT is at the centre of a protein–protein interaction hub. A mutation in the HTT gene results in the expansion of a polyglutamine repeat at the N-terminus of HTT and in Huntington's disease. Stefan Kochanek and colleagues present the full-length structure of human HTT in a complex with HAP40 to 4 Å resolution. This detailed structure paves the way for an improved understanding of the diverse cellular functions of HTT.
PPAR-δ is repressed in Huntington's disease, is required for normal neuronal function and can be targeted therapeutically
PPAR-δ activity is impaired by mutant huntingtin, and a PPAR-δ agonist attenuates disease in a mouse model of Huntington's disease.
Huntington disease is an autosomal dominant neurological disorder caused by mutation in HTT. The disease typically manifests in adulthood and is characterized by progressive motor, cognitive and behavioural impairment. This Primer discusses the current knowledge of this disease.