HD is a rare, progressive, neurodegenerative disease caused by genetic mutation in the huntingtin
gene, which results in the production of a toxic protein, the mutant huntingtin
(mHTT) protein, which gradually destroys neurons in the brain resulting in deterioration in mental abilities and physical control.
The disease is caused by a defect in a section of DNA called the huntingtin
gene, which normally carries the instructions for making the huntingtin
protein vital for brain development.
The first component of this collaboration will investigate the following potential therapies with the option to co-develop and co-commercialize after demonstration of clinical proof of mechanism: WVE-120101 and WVE-120102, which selectively target mutant huntingtin
and are currently in Phase 1b/2a clinical trials for the treatment of HD; WVE-3972-01, which targets C9ORF72 and is expected to be evaluated in clinical studies for the treatment of ALS and FTD beginning in Q4 2018; Program targeting ATXN3 for the treatment of SCA3.
Patients with Huntington's disease develop a toxic protein called mutant huntingtin
which slowly "poisons" specific groups of brain cells, typically over a 15 or 20-year period.
Huntington disease, she explains, is caused by a repeat expansion within the first exon of the huntingtin
gene, and results in destruction of brain cells along with negative effects in other tissues in the body.
IONIS-HTTRx, an antisense drug, is the first therapy in clinical development designed to target the underlying cause of HD by reducing the production of the toxic mutant huntingtin
Colocalization of transactivation-responsive DNA-binding protein 43 and huntingtin
in inclusions of Huntington disease.
These animals have been engineered to express the disease-associated proteins huntingtin
Similarly neuropathological diagnoses of the other neurodegenerative diseases including frontotemporal lobar degeneration (FTLD), Parkinson's disease, Huntington's disease, spinocerebellar ataxias (SCAs), and amyotrophic lateral sclerosis (ALS) are all defined with intracellular aggregates of tau/ TDP43/FUS, alpha-synuclein, huntingtin
, polyglutamine proteins and TDP43, respectively.
The researchers discovered that blood vessels in the brains of HD patients become abnormal due to the presence of the mutated Huntingtin
protein, the hallmark molecule linked to the disease.
The aims of this study were to identify genetic polymorphisms of the huntingtin
(HTT) gene and to further investigate its association with production performances in two Anhui local chicken breeds.
Global Markets Direct's, 'Huntingtin
(Huntington Disease Protein) - Pipeline Review, H1 2016', provides in depth analysis on Huntingtin
(Huntington Disease Protein) targeted pipeline therapeutics.