The disease progeria type 2, also called Werner syndrome, belongs to the genetic defects. The word progeria comes from Latin and means “premature aging”. Werner syndrome was first described by the Kiel physician C.W. Otto Werner in 1904.
What is progeria type 2?
The genetic defect in the hereditary material occurs very rarely. If a person is affected by Werner syndrome, premature aging occurs, with patients having a life expectancy of about fifty years. In contrast to the better known progeria type 1, type 2 does not appear in childhood but only in adulthood. In this case, progeria type 2 not only causes early external factors of the aging process, but also age-related diseases and accompanying symptoms.
Causes
The cause of premature aging lies in the DNA, more specifically on the short arm of chromosome 8, where the gene RECQL1 is mutated. The DNA, which is located as a kind of tangle in the cell nucleus, has a deficiency of helicase, a special protein. In order to carry out its normal functions, the DNA must be unwound, for which the DNA helicase is responsible. Due to the occurring disorder, the DNA is incorrectly converted during replication, which leads to developmental disorders and concomitant diseases. The DNA helicase is also responsible for the removal of errors in the DNA, which leads to an increased risk of cancer if a defect is present. This special protein also protects the telomeres of the chromosomes, i.e. the ends of the DNA, from premature degradation. In progeria type 2, these are degraded by the present defect, with the result that the cell can no longer divide. This lowers the frequency of cell division and increases cell aging because of low cell division.
Symptoms, complaints, and signs
Symptoms of this disorder do not become apparent until adulthood. The growth spurt that is common during puberty does not occur. Instead, the signs of premature aging gradually become visible from this point on. By the age of 20, the hair has already turned gray; it often looks sparse and thin. Those affected have grown much smaller than their peers. They often have flat feet. The face is narrow, while the eyes look relatively large. As the fatty tissue under the skin breaks down, as in older people, the skin appears thinner and more translucent. It may be wrinkled or stretched over the bones. As the disease progresses, age spots form and increased keratinization of the skin sets in. The voice changes in many of those affected. It sounds high, thin and rather weak. Patients are usually infertile because the function of the gonads is also impaired. As a concomitant of premature aging, other diseases usually develop. Osteoporosis may occur, which is associated with increased bone fractures. Cataracts, diabetes mellitus or arteriosclerosis are also possible. The latter can lead to stroke or heart attack. The risk of tumor diseases is increased. Melanoma is the most common. The life expectancy of those affected by Werner syndrome is shortened.
Diagnosis and progression
The first symptoms usually appear during puberty, as this is when the usual growth spurt stops. Childhood, on the other hand, passes without further signs. The body of those affected changes rapidly, so that they already look unusually old at the age of 30 to 40. Usually, progeria type 2 is noticeable because patients develop a mostly bird-like face and a weak, squeaky voice. The skin undergoes particularly severe changes due to severely restricted cell division. It becomes thin and wrinkled and often exhibits severe pigmentation. Some of the skin’s subfatty tissue recedes, causing the skin to lose its firmness and the body to lose its important fat pads. The hair also becomes shaky. It grays quickly and lose to its natural density and thickness. Werner’s syndrome also causes many age-related diseases and concomitant diseases. For example, those affected have a greatly increased risk of cancer because the DNA helicase no longer corrects the errors from the genetic material. Thus, mutations often occur, leading to tumor diseases. They also frequently suffer from diabetes mellitus, the typical age-related diabetes, and eye diseases such as cataracts. The advancing muscle atrophy also quickly becomes visible.As a result of progeria type 2, those affected also suffer from osteoporosis, frequently suffering bone fractures. Even the slightest stress can lead to fractures due to the increasing loss of bone density and the increasing porosity. Arteriosclerosis is very common in Werner syndrome, resulting in an increased risk of stroke and heart attack. Weakness of the Kreim glands, which can lead to infertility, also belongs to the concomitant diseases. The brain as well as the central nervous system are not affected by the disease, so no nerve cells perish and normal brain function is not affected. Progeria type 2 is usually diagnosed based on the specific physical symptoms. Genetic testing is performed to confirm the diagnosis. Scientists believe that Werner syndrome is based on what is known as recessive inheritance. In this case, both parents must pass on the defective gene. However, this assumption has not yet been sufficiently clarified. It can be observed that progeria type 2 frequently occurs in related marriages.
Complications
People with progeria 2 have a genetic defect that causes them to develop typical complications. In these people, the aging process starts prematurely and accelerates, the skin becomes very wrinkled, the subcutaneous fat tissue recedes they tend to have gray, thinning hair at a young age. Already at the age of 30 to 40 years they look like old men. Their face has a bird-like appearance and their voice seems weak and squeaky. Due to the accelerated aging process, these patients already suffer at a younger age from diseases that normally only appear at an older age, such as arteriosclerosis. This favors heart attacks or strokes. In addition, bone loss is faster in these patients and they suffer more from osteoporosis. Even minor stresses can cause your bones to break. In addition, there is an increased risk of developing cancer. Other complications include diabetes mellitus and cataracts. People with progeria type 2 also suffer from a congenital weakness of the gonads, which leads to infertility. Due to the typical course of the disease, these people have a reduced life expectancy, which is around their mid-fifties.
When should you see a doctor?
If parents or relatives notice that their offspring do not have a growth spurt during puberty, a doctor should be consulted. This circumstance should be understood as an alarm signal of the organism and should be followed up. If there is a premature aging of the affected person immediately afterwards, there is also cause for concern. A doctor should be consulted as soon as the skin appearance of an adult or old person develops in the young person. Age spots, unusual wrinkling, and an aged appearance should be presented to a doctor. Gray hair, thinning hair or severe hair loss as a young person are considered unusual. A visit to the doctor is advisable so that an investigation into the cause can be initiated. If infertility becomes apparent or changes in the voice occur, a doctor is needed. Often the voice is thin, soft and not very powerful. The whole appearance of the affected person seems weak and marked by life to the people in the close environment. If more bone fractures occur, the physical performance decreases rapidly or the affected person complains of an inner weakness, there is a need for action. A doctor should be consulted so that a treatment plan can be drawn up. A physician should be consulted if there is a general feeling of malaise, a feeling of illness, or unusual impairment of usual vision.
Treatment and therapy
Affected individuals with progeria type 2 receive symptomatic therapy, as there is no possibility of a cure for the genetic defect. The treating physicians try to alleviate the emerging symptoms and prevent possible complications. The primary goal is to ensure that patients have the best possible quality of life and to improve it as much as possible. Symptomatically, doctors can treat diabetes mellitus by teaching patients to change their diet and treating them with insulin. Because of osteoporosis and the resulting increased risk of bone fractures, the living facility should be designed with the patient in mind. Trip hazards such as exposed cords should be placed judiciously, most appropriately resting against baseboards. Carpets should also be laid out and fixed without wrinkles.In addition, the apartment should be well lit, due to the eye diseases suffered by patients of Werner syndrome.
Prevention
Because progeria type 2 is a genetic defect, it is difficult to prevent. Scientists point out that this genetic defect is passed on via a recessive inheritance. This means that both parents must carry the defective gene in order to pass the disease to their child. It can be observed that Werner syndrome often occurs in cases of intermarriage. If there is a suspicion that one parent has the defective gene, specific testing can provide clarity.
Follow-up
Because progeria type 2 is not treatable, there are no options for follow-up care in the classic sense. However, affected patients should visit their doctor at regular intervals to be examined. In the course of Progeria type 2, secondary diseases such as diabetes mellitus, clouding of the eyes or an unhealthy increase in cholesterol levels occur. If these symptoms are detected in time, appropriate treatment can be started. Especially in the case of diabetes triggered by progeria type 2, it is important that patients are properly controlled with medication. Otherwise, there is a risk that the patient’s blood sugar will rise too high or drop so low that they will go into sugar shock, which can be fatal. However, an important goal is to keep patients pain-free for as long as possible and spare them strenuous or risky therapies. That’s why, for example, doctors refrain from starting chemotherapy when cancer is found. The risk that progeria patients would not survive the therapy would simply be too high. Treatment of pain and prevention of possible complications are achieved through a combination of medication and lifestyle changes. In addition, patients also receive psychological care to prevent the onset of emotional distress such as depression.
Here’s what you can do yourself
Suffering from progeria type 2 is very stressful. Psychotherapeutic support is therefore recommended. In addition, progeria should be treated symptomatically. This includes regular care of the patient’s thinner skin and protection from sunlight. Creams with a high sun protection factor are suitable for this purpose. Because of the increased risk of bone fractures, the home should be furnished in such a way that patients cannot trip and/or fall unnecessarily. Patients with progeria type 2 are advised to maintain a healthy lifestyle, for example, to defy the increased risk of cancer. On the one hand, a healthy lifestyle includes avoiding toxins of all kinds, such as nicotine, alcohol, or even pollutants from the environment. On the other hand, patients should get active, exercise and eat a healthy diet. This diet can consist of light food, little fat and little sugar. This can also prevent diabetes mellitus. Since eighty percent of all immune cells are located in the intestines, patients can also turn to probiotics. These are preparations such as yogurt or dietary supplements that contain living microorganisms. These microorganisms multiply in the intestine and help maintain the immune system there. If the immune system is in tact, diseases can be warded off or their course alleviated.
