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How To Help Someone With Huntington's Disease

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How To Help Someone With Huntington's Disease – Professor Ho Yin Edwin Chan of the School of Life Sciences of the University of Hong Kong (CUHK), the University of Illinois at Urbana-Champaign, USA and the University of Pisa, Italy recently revealed that a small RNA species called CAG causes Huntington’s Disease (HD) by damaging genetic material in the genome. ) play a destructive role in the pathogenesis of

This is the first study to demonstrate that sCAGs are sufficient to induce neuronal DNA damage. The research team believes the findings could lead to the development of new treatments for HD. Experiments in mouse disease models have shown a positive therapeutic effect in reducing DNA damage in HD mice.

How To Help Someone With Huntington's Disease

The genome resembles a bookshelf that stores all the books (genetic material) that make up living organisms, including humans. Professor Chan’s team found that when sCAG accumulates to sufficient levels in nerve cells, It showed that the normal function of NUDT16, an important factor responsible for protecting the integrity of the genome, would be disrupted. Reduction of NUDT16 function rapidly accumulates genome damage in brain cells, ultimately triggering neurodegeneration and cell death. On the other hand, Restoring normal function of NUDT16 can rescue DNA damage and apoptosis in HD models.

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HD is a rare genetic disorder in adults. Symptoms of HD usually begin in patients’ 30s or 40s. As the disease progresses, patients experience a decline in body movement control and cognitive thinking as the neurons in their brains continue to malfunction.

The research team discovered a small molecule compound called DB213 that can significantly restore motor impairment in mice infected with Huntington’s disease. Using nuclear magnetic resonance spectroscopy, the team determined the solution structure of the DB213/sCAG complex. It will be possible to visualize how the compound covers the toxic sCAG. This patent-protected technology provides a basis for the team to further modify the compound to achieve greater therapeutic effects against HD. Huntington’s disease is a genetic condition that affects the brain and over time affects a person’s ability to control hand movements. leg It is called face and body (chorea). It changes personality and mental health and can lead to dementia over time. Most often it happens in adulthood. As the disease progresses, symptoms worsen as the person loses the ability to walk and talk, eventually developing muscle stiffness (rigidity) and severe focus. Among genetic disorders, the inheritance pattern of Huntington’s disease is unusual, but is becoming more common in the near future.

The gene responsible for Huntington’s disease (HD) is called HTT. It produces a protein called huntingtin. The exact function of the protein is unknown, but it is thought to play an important role in nerve cells in the brain. These cells send electrical impulses through the brain and other parts of the body that allow you to make movements like raising your hand or wiggling your toes. People with HD make abnormal HTT protein due to a mutation in the HTT gene, where nerve cells malfunction and stop working. It causes parts of the brain to wither (atrophy) and cause disease.

Everyone has two copies of HTT; One from the mother and one from the father. At the beginning of the HTT gene; There is a repetitive part of the genetic code. in particular, Three genetic building blocks (base pairs); Cytosine-Adenine-Guanine follows this sequence: CAG; CAG CAG and so on repeat. For this reason, HD is known as a triple or trinucleotide repeat disorder.

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People who are not at risk for developing HD have 26 or fewer CAG repeats in their HTT gene. People with 27 and 35 CAG repeats are not at risk of developing HD, but the child is at risk of developing the disease. (This range of repeats is called the “intermediate allele,” another word to describe the gene.) People with CAG repeats 36 to 39 can develop HD (this is called the “low penetrance allele”). If someone in this category develops HD; It is generally the latter. Finally, People with 40 or more CAG repeats will almost certainly develop HD, and the more CAG repeats, the earlier the disease. for example, HD can start in adolescence when the CAG size expands to 60.

HD is an autosomal dominant condition. This means that anyone with a CAG size of 40 or more has a 50% chance of passing on the risk of developing HD to their children. However, What makes HD unique among autosomal dominant disorders is that the size of the CAG repeat increases when it is passed from parent to child—but only when it is passed from fathers to children. for example, If a male has a CAG repeat size of say (35). His children may have a CAG repeat size of 40; Although the person has not yet developed the disease, Therefore, CAG repeat expansion occurs in male-transmitted families. As the CAG repeat expands, the age of onset may be earlier. When younger than generations, this pattern is called anticipation.

Genetic testing for the HTT gene can determine the size of a person’s CAG repeat and assess their risk of developing HD. Deciding to undergo genetic testing for this disease is not an easy decision. There is no cure or prevention for HD. Treatment usually involves managing symptoms as symptoms develop. Huntington’s disease can be a devastating diagnosis for individuals and families, but for the first time in a while, some new drugs are in clinical trials that show some promise in treating HD.

Some people choose to be tested for HD because they want to use the information for family planning purposes. Genetic technologies now exist that allow a couple known to be at risk of HD to have a child without the condition. for example, In preimplantation genetic testing, a couple undergoes in vitro fertilization. When the embryos have grown to a certain stage, a single cell can be removed and tested for HD. Embryos without CAG repeat expansions can be implanted with almost guaranteed delivery without risk for HD.

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In other cases, People may choose to be tested for financial and medical planning purposes. If diagnosed with HD, there is less financial burden on the family and the insurance needed to know how to manage the person. A medical attorney and other emergency plans are all that some people need. Tue.

Because of the potential risk of significant psychological effects of testing positive for HD, geneticists should consult a geneticist before individuals undergo predictive genetic testing for HD. It is very important to meet with psychologists and other health care professionals.

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San Diego Chapter of Huntington’s Disease of America on Saturday, September 16th. Coronado is hosting its annual Team Hope Walk fundraiser.

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The event was held at Coronado Tidelands Park, Check-in and registration will begin at 9:00 a.m. at 2000 Mullinex Drive. The walk starts at 10am.

“It’s always great to bring fun, food, camaraderie and a good time together as a human family—together with the community,” said Nichole Mendoza, HDSA PacWest Regional Development Officer. “Sponsoring events like this helps fund our local support groups and social workers.”

As of Tuesday afternoon. The organization raised $28,136 of its $90,000 goal, with the top two contributors, Aaron Apffel and Molly LaBarrie, raising $2,320 and $2,120, respectively.

Huntington’s disease is a severe, degenerative disease that causes the death of nerve cells in parts of the brain. The National Institutes of Health reports that it is an inherited neurodegenerative disease. As the nerves become severed, a person may lose their fingers, You may feel uncontrollable movements in the legs or trunk. Others become stiff and unable to move their muscles and limbs involuntarily.

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The HDSA San Diego chapter offers resources for people living with the condition, including online and in-person support groups.

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