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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Direct conversion of adult Huntington’s disease patient fibroblasts into medium spiny neurons recapitulates hallmark phenotypes such as cell death, in contrast to models that lack epigenetic markers of aging. This successful ‘disease-in-a-dish’ highlights the benefits of capturing age in an adult-onset disorder model.
Two decades after antisense oligonucleotides (ASOs) were initially identified as agents capable of modulating RNA processing and protein expression, the first antisense oligonucleotide (ASO) therapies have now been approved for the treatment of neurological disease. Here, Rinaldi and Wood discuss our current understanding of ASO pharmacology, and the future prospects for ASO-mediated treatment of neurological disease
The gene that causes a devastating neurodegenerative disease may also have been critical in the evolution of our species
A reactive astrocyte subtype termed A1 is induced after injury or disease of the central nervous system and subsequently promotes the death of neurons and oligodendrocytes.
Compromised compartmentalization of nucleus and cytoplasm has emerged as a central feature of aging and neurodegenerative diseases. Nucleocytoplasmic transport is disrupted, with widespread mislocalization of nuclear pore proteins, in TDP-43 proteinopathies such as, amyotrophic lateral sclerosis and frontotemporal dementia.
Developmental alterations in Huntington's disease neural cells and pharmacological rescue in cells and mice
The Huntington's disease (HD) induced pluripotent stem cell (iPSC) consortium describe the combined use of differentiated patient-derived iPSCs and systems biology to discover underlying mechanisms in HD. They identify neurodevelopmental deficits in HD cells that can be corrected in cells and in vivo with a small molecule.
Striatal neurons directly converted from Huntington’s disease patient fibroblasts recapitulate age-associated disease phenotypes
Direct neuronal conversion of skin fibroblasts from individuals with Huntington’s disease (HD) generates a population of medium spiny neurons that recapitulate hallmarks of HD, including aggregation of mutant huntingtin protein, DNA damage and spontaneous cell death.
The structure of huntingtin in complex with an interactor is determined to an overall resolution of 4 Å, paving the way for improved understanding of the cellular functions of this protein.
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.