Not all dances are beautiful and graceful. There is, in fact, a condition that leads individuals to uncontrollably “dance,” resulting in terrible physical and mental impairment.
transgenic mice This disease is known as Huntington’s disease (HD), named after the physician who first characterized it in 1872. HD is a rare, autosomal dominant degenerative disease of the basal ganglia and cerebral cortex. The symptoms of Huntington’s disease can vary widely depending on the individual, but often include involuntary movements, cognitive impairment, and emotional disturbances. As the disease progresses, individuals may experience difficulty with speech, swallowing, and mobility, ultimately leading to complete dependence on caregivers.
Among HD patients, tThe caudate putamen and nucleus accumbens nuclei in particular experience atrophy and neuronal loss. A mutation in the huntingtin gene (HTT), which is in charge of producesing the huntingtin protein, is what causes this disease Huntington’s disease (HD). Towards the 5′ end of the coding region of , this gene, there is has a polymorphic region of CAG repeatstriple nucleotide repeat sequence with the nucleotide combination CAG. When the number of CAG repeat copies rises above 40, it is considered abnormal and leads to polyQ amplification, which in turn causes HTT protein fragments to misfold. These fragments interact incorrectly with a wide range of proteins and aggregate in the nucleius and nerve terminals of neurons, resulting in nerve cell injury and, as a result, involvement of in multiple brain regions[1].
The RNAi mechanisms in Huntington’s disease[2]
While HD has been under intensive investigationbetter understood since 1993, there is currently no viable medication to halt the disease’s progression. Nevertheless, there areis reasons to be optimistic about the future.
Therapeutic research and development for HD
Gene therapy is shedding new light on the condition of HD patients. Gene therapy involves the insertion of a normal huntingtin gene into cells to replace the faulty one. This approach has shown some success in animal models and is currently being tested in clinical trials. For example, UniQure disclosed data on its investigational gene therapy AMT-130, which was well-tolerated after 12 months of administration in a phase I/II clinical trial’s low-dose group. There were no significant safety issues, and patients’ mutant Huntington protein (mHTT) levels in their CSF decreased by an average of 53.8%. Perhaps this treatment will be the first of its kind to actually slow or stop the progression of HD.
Another direction of HD research is the application of stem cells to replace damaged neurons in the brain. While this is still a relatively new field, early studies suggest that stem cell therapy may hold promise for the treatment of HD and other neurodegenerative disorders.
To summarize, HD is a horrible condition that impacts not only the sufferer but also their family and loved ones. While there is presently no effective treatment to reverse disease development, gene therapy shows great promise for changing the disease’s course. With continued advances in medical science and a growing community of support, we can work towards a future where Huntington’s disease is no longer a source of suffering and despair.
Let’s see wWhat GemPharmatech can do for you?
The lack of effective drugs to combat Huntington’s disease is a challenge. An important aspect of drug development is selecting the appropriate animal models. In this regard, mouse models offer several advantages for HD research, including comprehensive research tools and genetic and phenotypic similarity to patients.
#GemPharmatech has developed the B6-hHTT130-N model, which carries a human HTT gene fragment with 130 CAG repeats. This model has been shown to exhibit significant motor function abnormalities at 17 weeks, simulating the pathological and motor function phenotypes of HD. The B6-hHTT130-N model can be used for drug screening and safety evaluation in HD therapy. Additionally, it has a survival period of over 24 weeks, which is longer than the classical R6/2 model, making it more suitable for studying age-dependent effects and providing a longer window for preclinical evaluation.
Learn more here: https://en.gempharmatech.com/content/details100032_3809721.html
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