's recently popular TV series "Healing Lovers", with its affectionate and tenacious storyline, leads the audience to delve into the little-known rare disease - Huntington's disease.
Su Weian is a PhD student at a medical university. She suddenly dropped out of school and went abroad to do business with excellent grades. She met her former teacher Gu Yunzheng by chance overseas. The two went from being happy enemies when they first met to mutual affection and love after the misunderstanding was resolved. When things got hotter, she had to face a cruel fact: Su Weian had a family history of Huntington's disease. Her father and aunt had both been affected by the disease, and genetic testing found that she herself also carried the disease-causing gene. After experiencing multiple failed clinical trials, the two finally decided to face the challenge of fate side by side.
What kind of disease is Huntington's disease inherited in the heroine's family? Why on earth does the whole body start to "dance" involuntarily?
Huntington's disease (hd) is a neurodegenerative disease caused by the abnormal expansion of the cag repeat sequence of the huntingtin (htt) gene located on chromosome 4.
Professor Wu Zhiying, director of the Department of Medical Genetics at the Second Affiliated Hospital of Zhejiang University School of Medicine, said that the incidence rate of Huntington's disease in East Asia is about 0.5/100,000 people. In 2018, it was included in the first batch of rare diseases in China. Abnormally expanded cag repeat sequences can lead to the accumulation of mutant huntingtin protein (mhtt) in neurons, triggering the death of nerve cells in multiple areas such as the striatum and cortex of the brain, leading to a series of clinical symptoms.
Huntington's disease mainly manifests as progressive movement disorders, cognitive impairment and mental and behavioral abnormalities. Patients mostly develop symptoms between the ages of 40 and 45. According to the course of the disease, it can be divided into "pre-symptomatic stage" and "symptomatic stage". Pre-symptomatic individuals may gradually develop subtle motor, cognitive and behavioral changes about 15 years before the onset of disease. Symptoms worsen over time after the onset of the disease. Patients usually die within 15 to 20 years after the onset of the disease due to accidental falls, difficulty swallowing, coughing, suffocation, severe lung infection, severe malnutrition and other reasons.
Movement disorders: The most common ones are involuntary dance-like movements of the whole body, squinting and other weird expressions on the face and mouth. In addition, there are also difficulties with fine movements. As the disease progresses, symptoms such as dystonia and slow movement become more prominent, and they are eventually lost. Ability to move independently;
Cognitive impairment: usually appears before motor symptoms, such as memory and attention loss, as well as gradual communication and understanding difficulties, confusion about people, things, time, place and other details;
Mental behavioral abnormalities: The most common is depression, and in severe cases, suicidal ideation and suicidal behavior may occur. In addition, they are prone to anxiety, suspicion, obsessive-compulsive behavior, often losing temper or attacking others, suddenly becoming reticent or not paying attention to personal hygiene, and a few patients may experience hallucinations and delusions.
Professor Wu Zhiying said that at present, there is no treatment method for Huntington's disease that can completely cure the disease. Clinically, symptomatic treatment with drugs is used to control motor and mental symptoms. Appropriate exercise and rehabilitation training can also help patients improve their motor functions and improve their symptoms. patient's quality of life. Chorea-like movements are the most common early symptom of Huntington's disease. Medication can relieve symptoms to a certain extent, but it cannot slow down or stop the progression of Huntington's disease. Since the causative genes and pathogenesis of Huntington's disease are relatively clear, related gene-targeted treatments are also being actively explored.
At the end of the story, Gu Yunzheng devoted the rest of his life to research on the treatment of Huntington's disease. In the real world, drugs to alleviate the symptoms of Huntington's disease have been approved for marketing, and many gene therapy clinical trials are advancing.
"No matter how desperate the situation is, there are still people who will never give up." I believe that one day there will be a glimmer of hope, so that patients will no longer be tortured by the disease.
