Huntington's Disease (HD)
Huntington's disease (HD) is a heritable neurodegenerative disorder transmitted in an autosomal dominant manner. At Protheragen, we focus on developing novel therapeutics while simultaneously improving sophisticated animal models, thereby accelerating the preclinical assessment of potential HD treatments. Our expertise ensures that each collaborative research initiative is underpinned by rigorous reproducibility and scientific rigor.
Overview of Huntington's Disease (HD)
Huntington's disease (HD) is a hereditary, relentless neurodegenerative disorder, inherited in an autosomal-dominant pattern, and arises from an expanded CAG trinucleotide repeat in the HTT gene, which codes for the huntingtin protein (HTT). Clinically, the illness is characterized by a combinatorial onset of motor, cognitive, and psychiatric deficits: chorea, dementia, and behavioral disturbances. The combined toll of these symptoms culminates in profound disability, with average survival ranging from 10 to 20 years following the first appearance of clinical signs.
Fig.1 Schematic diagram of Huntington's disease (HD) symptoms and the domain organization of the huntingtin protein (HTT). (Jarosińska O D, Rüdiger S G D., 2021)
Pathogenesis of Huntington's Disease (HD)
Huntington's disease (HD) arises from an increase in the CAG repeat length within the HTT gene, producing a mutated form of the huntingtin protein (HTT) characterized by an extended polyglutamine tract. This variant protein misfolds and aggregates, overwhelming the proteostasis network, while concurrently altering transcriptional control and compromising mitochondrial integrity. The confluence of these defects produces energetic shortages and heightened oxidative stress, with striatal neurons becoming the principal targets of the ensuing neurodegeneration.
Fig.2 Steps in cellular pathogenesis of Huntington's disease (HD). (Irfan Z, et al., 2022)
Therapeutic Development for Huntington's Disease (HD)
| Drug Names | Mechanism of Action | Targets | NCT Number | Research Phase |
| SOM3355 | Blocks vasopressin-induced neuronal excitotoxicity in basal ganglia circuits | Vasopressin V1a receptor | NCT03575676 | Phase IIa |
| Coenzyme Q10 | Maintains mitochondrial membrane potential by shuttling electrons in ETC complexes | Mitochondrial complexes I-III | NCT00608881 | Phase III |
| Sodium Phenylbutyrate | Unfolds mutant HTT aggregates via chaperone upregulation and histone deacetylation | HSP90/70 chaperones; HDAC2/3 enzymes | NCT00212316 | Phase II |
Disclaimer: Protheragen focuses on providing preclinical research services. This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.
Our Services
Specializing in comprehensive solutions for Huntington's disease (HD), Protheragen integrates diagnostic development with cutting-edge in vitro diagnostic (IVD) kits for early disease identification. Our therapeutic development pipeline leverages exclusive disease models, such as physiologically representative blood-brain barrier (BBB) models, to expedite the exploration and authentication of central nervous system (CNS) targeted treatments.
Therapeutic Development Services
By Mechanism of Action
Disease Model Development Services
In Vitro Model Development
- 3-nitropropionic Acid Induced Model
- Quinolinic Acid Induced Model
- Q140 Knock-in Model
- HdhQ Knock-in Model
- zQ175 Knock-in Model
- Other Models
At Protheragen, we are committed to validating and optimizing therapies for Huntington's disease (HD) through preclinical studies including pharmacodynamics (PD), pharmacokinetics (PK) and toxicology to ensure their successful regulatory approval. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
- Jarosińska O D, Rüdiger S G D. Molecular strategies to target protein aggregation in Huntington's disease[J]. Frontiers in molecular biosciences, 2021, 8: 769184.
- Irfan Z, Khanam S, Karmakar V, et al. Pathogenesis of Huntington's disease: an emphasis on molecular pathways and prevention by natural remedies[J]. Brain Sciences, 2022, 12(10): 1389.