Huntington's disease (HD) is a progressive neurodegenerative disorder with a well-defined genetic cause. Our company is dedicated to advancing the field of HD diagnosis through cutting-edge technologies and tailored IVD solutions. By developing innovative HTT gene detection reagents/kits and compact diagnostic devices, our aim is to address the complexity of HD pathogenesis and diagnostic challenges, fundamentally transforming the detection and management of this genetic disorder.
Overview of Huntington's Disease
Huntington's disease (HD), often referred to as Huntington's chorea, is a severe genetic neurodegenerative disorder. The hallmark of this disease is a progressive deterioration of physical, cognitive, and mental functions, typically occurring between the ages of 30 and 50. In the general population, the estimated prevalence of Huntington's disease is around 5 to 7 cases per 100,000 individuals.
Fig. 1 Schematic representation of the pathophysiology of Huntington's disease. (Khan H., et al., 2020)
Pathogenesis of Huntington's Disease
Huntington's disease (HD) results from a mutation in the huntingtin gene (HTT), which triggers the production of mutant huntingtin protein (mHtt), gradually compromising brain function.
Gene Mutation
HD is predominantly triggered by an elongation of CAG trinucleotide repeats within the huntingtin gene (HTT). This anomalous elongation leads to the formation of mHtt. A higher count of CAG repeats correlates with earlier onset and increased severity of symptoms.
mHtt Protein Accumulation
The presence of mutant huntingtin (mHtt) protein is central to the pathogenesis of Huntington's disease. The accumulation of mHtt aggregates in neurons leads to cellular dysfunction and eventual neuronal death, particularly affecting the striatum and cortex in the brain.
IVD Products for Huntington's Disease
In vitro diagnostic (IVD) tests are indispensable tools in the comprehensive management of Huntington's disease (HD), offering valuable insights into disease diagnosis, prognosis, therapeutic selection, and research endeavors. The primary strategy for the development of in vitro diagnostics for HD is to identify the number of CAG trinucleotide repeats in the HTT gene. Currently, several diagnostic kits are available on the market to facilitate early detection and accurate diagnosis of HD.
| Kits |
Uses |
Detection Methods |
| CAG Triplet Repeat Number Determination Kit |
This kit is used to quantify the number of CAG triplet repeats located in exon 1 of the IT15 gene (HTT). |
Fluorescent Fragment Analysis |
| Huntington Disease Kit |
The kit provides a semi-quantitative analysis of the CAG repeat expansions within the HTT gene. |
PCR |
| HTT Gene Sequencing Kit |
The kit identifies abnormal mutations by sequencing the HTT gene. |
Next-Generation Sequencing (NGS) |
Our Services
Focusing on tailored in vitro diagnostic (IVD) solutions for rare genetic disorders such as Huntington's disease (HD), our company is committed to developing HTT gene testing kits for precise assessment of CAG trinucleotide repeat counts. These kits are engineered to seamlessly integrate with IVD devices, simplifying diagnostics and improving testing precision and efficiency.
IVD Product Development Services
Additionally, our services include point-of-care diagnostics and companion diagnostics development tailored for Huntington's disease (HD). These offerings are instrumental in facilitating swift disease detection and early recognition of biomarkers.
If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
- Khan, H., H. Ullah, and R. Tundis. "Dietary flavonoids in the management of Huntington's disease: mechanism and clinical perspective. eFood 1: 38–52." (2020).
- Stoker, Thomas B., et al. "Huntington's disease: Diagnosis and management." Practical neurology 22.1 (2022): 32-41.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
