What Is Progeria?
Premature aging (Hutchinson-Gilford Syndrome), full name Hutchinson-Gilford Progeria syndrome, also known as premature aging in children, is a genetic disease, Hutchinson first reported in 1886.
Progeria
- Premature aging (premature senility in children) is a genetic disease. The process of aging of the body is 5 to 10 times faster than normal. The patient looks like an old man, and the organs also decay quickly, causing a decline in physiological functions. Symptoms include thinness, hair loss, and late teeth. Sick children generally live only between 7 and 20 years of age, and most will die from aging diseases such as cardiovascular disease. There is no effective treatment method at present, and only drug-based treatment is available.
Introduction to Progeria Disease
- Premature aging (Hutchinson-Gilford Syndrome), full name Hutchinson-Gilford Progeria syndrome, also known as premature aging in children, is a genetic disease, Hutchinson first reported in 1886.
- Although this disease is a congenital hereditary disease, it is not certain whether it is an autosomal recessive or a dominant inheritance. This disease is a syndrome characterized by delayed development and progressive senile degenerative changes in infancy. The patient's aging process is very rapid. Children with the disease are rarely over 13 years old, and about one in eight million newborns has the disease.
- Progeria
- As a newborn, the patient is usually normal at birth. However, within a year, their growth rate slowed down, and shortly after, they were shorter and lighter than other normal children. Although she has normal intelligence, her hair is alopecia areata, the skin is wrinkled and flaccid, her teeth are lost, her nose is cramped, her face and chin are small, her head is extremely disproportionate, her eyes are sunken, and her senile spots appear on the skin of her cheek and arm , The whole looks like an 80-year-old man.
- They also suffer from a variety of aging disorders that are unique to the elderly, such as joint stiffness, hip dislocation, and severe cardiovascular disease. However, other diseases related to normal elderly, such as cataracts and osteoarthritis, do not appear in patients with premature aging. [1]
Status of Progeria Disease
- Children with premature aging have a physical aging speed 5 to 10 times faster than the normal aging process, making them look like elderly people. The organs in the patient's body are also rapidly aging, causing various physiological functions to decline. The most common symptoms of progeria patients include: hair loss, late teething, short stature, and reduced subcutaneous fat. However, most of the children's mental age is the same as that of children of the same age. Experts point out that sick children generally only live to be 7 to 20 years old, and most of them die of aging diseases such as cardiovascular disease. There is currently no effective treatment for premature aging. [1]
Signs and symptoms of premature aging
- The early symptoms of progeria include stunting and localized scleroderma. Other symptoms become more pronounced after the patient has passed the infancy.
- Unique appearance: short stature, weight loss and disproportion to height, immature sexual development. Decreased subcutaneous adipose tissue. The head and face are disproportionate, the area occupied by the head is relatively large, and the face is relatively small. The lower jaw is smaller than normal. The scalp veins are obvious and hair loss is widespread. The eyes are bird-eye-shaped, the teeth are delayed, the chest is pear-shaped, the clavicle is short and stunted, the posture is riding, the feet are wide apart, the feet are pulled, and the hips are turned out. The thumb is thin and the joints are permanently rigid. The most characteristic clinical manifestations are thinning, tense, dry and wrinkled skin.
- Brown spotted pigmentation can be seen in many places. The skin of the lower abdomen, thighs and buttocks is scleroderma. These parts
- Progeria
- Such children are often normal in infancy or have scleroderma-like symptoms. The bruise and hook nose in the middle of the face often indicate the possibility of this disease. By the age of one year, the symptoms become more and more obvious until the second year, showing various characteristic manifestations. Patients with this disease are generally free of abnormalities in the thyroid, parathyroid, pituitary, and adrenal glands. However, the basal metabolic rate increases and blood lipids are abnormal. Atherosclerosis can occur in presenile patients. Cardiovascular and cerebrovascular diseases often die early. "Arteriosclerosis" is a common symptom in patients with premature aging. In patients with progeria, the problem of hyperlipidemia is caused by an increase in low density lipoprotein and an increase in blood cholesterol. The problem of arteriosclerosis is visible in every patient with Alzheimer's disease. Based on this clinical finding, scientists speculate that gene expression related to fatty acid transport and oxidation may also be one of the possible causes of premature aging. [1]
Causes of Progeria Disease
- Researchers from the Progeria Research Foundation announced on June 17, 2004 that mutations in the Lamin A gene are responsible for the gradual deterioration of cell structure and function in children with progeria. The full name of Progeria is Hutchinson-Gilford Progeria Syndrome (HGPS or Progeria).
- The study was published in Proceedings of the National Academy of Sciences (PNAS) in mid-June. Progeria is a rare, fatal genetic disease, and patients age rapidly since childhood. This research focuses on the importance of Lamin A gene for the maintenance of cell structure and function. The protein encoded by the Lamin A gene is a scaffold of cellular structure and is also involved in gene expression and DNA replication. This study points out that the mutation of Lamin A gene is related to the aging of premature aging cells, which may be due to the mutation of cell function caused by Lamin A protein. The instability of nuclear membrane plays a key role in Hutchinson-Gilford premature aging syndrome. The findings also give scientists a better understanding of heart disease and cellular aging in progeria. About one to four premature agings occur in every eight million newborns. People with progeria often have small, frail bodies, just like the elderly.
- Progeria
- In addition, patients with progeria are usually sensitive to sunlight. This is because the patient's body cannot perform normal human DNA repair work, and loses the functions of cell replication and protein production. At present, two genetic defects related to progeria, CSA and CSB, have been found, of which the CSA gene is located on chromosome 5. The proteins produced by these two gene codes are related to DNA repair and replication and translation.
- "Arteriosclerosis" is a common symptom in patients with premature aging. In patients with progeria, the problem of hyperlipidemia is caused by an increase in low-density lipoprotein and an increase in blood cholesterol. The problem of arteriosclerosis is visible in every patient with Alzheimer's disease. Based on this clinical finding, scientists speculate that gene expression related to fatty acid transport and oxidation may also be one of the possible causes of premature aging. Unlike other accelerated aging diseases, such as Werner syndrome, Cockayne syndrome, or xeroderma pigmentosa, premature aging is not caused by a defective DNA repair program. Because these "accelerated aging diseases" show different aspects of aging, but not every aspect. They are often referred to as "partial premature aging."
- Genetic mutation causes this strange disease
- In 2003, researchers from the National Human Genome Institute (NHGRI), the Premature Childhood Research Foundation, New York State College, and the University of Michigan discovered that Hodgson-Gilford's premature childhood is caused by a small mutation in a single gene . They found that premature aging in children is not inherited, but caused by mutations in a protein gene called LMNA (Lamin A) in the human body. LMNA is mainly responsible for the interconnection between the nucleus. Once it is mutated, it will leave the nucleus in an unstable state and accelerate the development and aging of the human body. Its speed is equivalent to 8 times the normal speed, leading to premature aging.
- Dr. Francis Collins, head of the research team: "What I want to announce now is that this independent gene (LMNA) can now be replicated into 7 different genes. Usually the mutation result of the gene depends on where the gene mutation occurs. Also That is to say, different mutation positions of genes will cause people to suffer from different diseases, such as muscular dystrophy, fat metabolism disorders, primary cardiomyopathy, and neurological diseases. All these may be caused by gene mutations. We The part of the gene that causes premature aging in children is very special now because it (LMNA) directly affects the linking of genes, (its mutation) will have a significant impact on the entire human body. "
- The LMNA gene encodes two proteins, lamin A and lamin C. Hodgson-Gilford mutations of premature aging in children cause LMNA to produce abnormal lamin A protein, which leads to the instability of the nuclear membrane and easy injury to tissues and organs due to strong physical strength. Such as the cardiovascular and musculoskeletal systems.
- Progeria [2]
- Premature childhood aging is a very rare disease in which children's physical dysfunction is severe. Exactly what causes premature aging in children has long plagued the medical community with this problem, and there is currently no effective treatment for premature aging in children. John Tucot, a child with premature aging: "The news that they have found our disease-causing genes is indeed exciting, because we will probably be cured, and children with premature aging who have died of cardiovascular disease or arteriosclerosis, whose The average age is usually 13 years. The discovery of the pathogenic genes of premature aging in children will not only help scientists find early treatments for premature aging in children, but also help scientists to further study the process of human aging and many problems in cardiovascular disease .
Progeria Pathophysiology
- Normal-looking skin generally has no pathological changes. The pathological changes of scleroderma-like skin are epidermal atrophy and sebaceous gland atrophy
- Progeria
Progeria Disease Discovery
- Progeria was first discovered in 1886 by Dr. Jonathan Hodgson and Dr. Hastings Guilford. Dr. Hodgson first described the condition in 1886 and Dr. Guilford discovered it in 1904.
Prognosis diagnosis test
- The diagnosis of premature aging is based on the patient's symptoms, and the patient's appearance and growth record are important diagnostic criteria. In addition to the problem of stunting in presenile children, the most common signs are as follows:
- Typical bird-shaped head, and is bald;
- Short stature and underweight;
- Thin limbs and obvious joints;
- Reduced subcutaneous fat;
- Progeria
- Piriform chest with short clavicle;
- Blue tendons are prominent. [1]
Premature aging test method
- Laboratory examination : Generally there are no abnormal changes, sometimes accompanied by an increase in serum cholesterol and abnormalities of lipoproteins. It is normal to check the serum glycerol and fatty acid content 2h after a meal. Experimental studies have shown that the release of free fatty acids in adipose tissue is normal, and the excretion of glucuronic acid in urine is normal. Villee et al. Believe that the main abnormal changes in this disease are related to the metabolism and synthesis of certain structural proteins such as collagen, actin, myosin, and keratin.
- Clinical laboratory examination : Hyaluronic acid value in urine will increase, and blood fat value will often be abnormal. But these tests are not very helpful for diagnosis.
- X-ray examination : When the patient is 1 to 2 years old, changes in the skull, chest, long bones and phalanges will be found. In addition, there will be osteoporosis and lack of soft tissue.
- Genetic mutation analysis : The Alzheimer's Research Foundation has developed a "Diagnostic Testing Program" that can be used to understand whether genes have changed or mutated. [1]
Progeria treatment plan
- None of the treatments for progeria have been proven effective. Most treatments focus on reducing complications such as coronary artery bypass surgery or low-dose aspirin. Patients may also benefit from high-calorie diet therapy.
- Growth hormone treatment has also been tried.
- Progeria
- If there is low endocrine function, corresponding supplementary treatment should be made; those with high blood lipids and atherosclerosis should limit the amount of fat in food and give anti-atherosclerosis drugs appropriately. Those with dry and hard skin can take niacin, vitamin E, vitamin B group orally, or take salvia miltiorrhiza tablets or intravenous injection of salvia miltiorrhiza. Some developmental deformities can be corrected with surgery. In short, the disease is mainly symptomatic and there is no specific treatment. [1]
Premature aging relief measures
- According to a report on the Daily Science website, a new study indicates that vitamin C, which is often available in small home medicine cabinets, may treat disorders that can accelerate aging, especially Werner's syndrome in adults. The research results were published in 2010 In the Journal of the American Federation of Experimental Biology.
- The Canadian scientific team pointed out in this research report that vitamin C prevents or even reverses the accelerated aging process in mice with adult premature aging, but the findings may also apply to other premature aging. People with premature aging in adults show signs of accelerated aging beginning in their 20s, forming senile diseases before the age of 50, and they generally die before the age of 50. Co-author of the paper, Mike Lebel, Quebec, Canada, said: "Our research clearly shows that healthy organisms or individuals who do not have the disease do not have to take large amounts of vitamin C to extend their lives, especially when they have a balanced diet, And when exercising regularly. When organisms or individuals have WRN gene variants, or any genes affected by WRN proteins, they tend to suffer from senile diseases, and these people take a certain amount of vitamin C to bring health benefits. "
- Scientists have added vitamin C to the drinking water of healthy mice and mice carrying genetic variants that cause adult aging (WRN gene). Prior to treatment, mice carrying WRN variants were more likely to gain weight, develop diabetes, and slowly develop heart disease and cancer. After the treatment, mice carrying the mutant gene became as healthy as normal mice, with life spans reaching normal levels. Vitamin C also promotes the ability of mice to store and burn fat, reduces tissue inflammation, and reduces oxidative stress in mice carrying the WRN gene. Healthy mice showed no signs of benefiting from vitamin C. Gerald Wiesman, editor-in-chief of the Journal of the American Federation of Experimental Biology Associations, said: "Vitamin C has become the most misunderstood substance in our medicine cabinets and foods, and this and other similar studies help Explain how this chemical helps prevent premature aging in some people, not everyone, and the causes of premature aging. " [2]
Clinical Cases of Progeria
- Case 1 : Ai Shanti Eliot Smith, 7 years old, is near Brighton, UK. When she was born in May 2003, she weighed 2.55 kg and looked like a normal and healthy baby. . However, three weeks after Ai Shanti was born, her body suddenly started to have cramps, and her parents quickly sent her to the hospital for examination. The doctor performed a series of medical tests for Ai Shanti, but she was not found to have any problems. However, in the following months, Ai Shanti's condition began to worsen and worsened. It wasn't until Aishanti's one-year-old birthday that experts at Great Ormond Street Children's Hospital in London diagnosed Aishanti with the rare "Hutchinson-Gilford Premature Aging Syndrome". Mother Phoebe recalled: "I was stunned on the spot. When I woke up, the doctor told me that we must take care of Ai Shanti like a grandma." According to the doctor, premature aging is usually caused by a genetic defect Caused, but not necessarily inherited, Ai Shanti's 4-year-old sister Brandy Lou did not suffer from premature aging. Children's "progeria" can be said to be quite rare. Even worldwide, there are currently only 52 patients with progeria, and Eichendi is one of only two patients with progeria in the United Kingdom. Children with premature aging generally behave normally at birth, but they will accelerate aging by about one year old, and suffer from various geriatric problems such as baldness, arthritis, vascular sclerosis, and heart disease.
- In the past few years, Ai Shanti has aged rapidly 8 times faster than ordinary people. Although Ai Shanti is only 7 years old, her appearance looks like a 60-year-old retired woman.
- Ai Shanti and mother
- According to British medical experts, by the time she is 10, her body will age like an 80-year-old woman. However, the courageous Ai Shanti has been indomitable to fight premature aging, and she even went to a mainstream school like other children of the same age. However, as the average life expectancy of progeria patients is only 13 years old, Ai Shanti's life has begun to enter a "countdown". Her parents even gave up work to accompany and take care of her daughter at home and will spend every day with her Think of it as a gift from heaven.
- Case 2 : Amy Hughes, a 18-year-old British girl, and Nick Jaminite, a 17-year-old American boy, are a teenage couple. What's heartbreaking is that they both suffer from a rare type of premature aging, Cochian Syndrome. Although they are both under 20 years old, their bodies are already like 60- or 70-year-olds. Neither of them may live beyond 20! However, although they cannot grow old together, they have vowed to live and die. Nick has formally proposed to Amy last summer, and they plan to hold a romantic wedding this summer and marry in this life. But according to medical experts, they may not even be able to live to their dream wedding this summer!