Aging is a natural phenomenon, a product of wear and tear caused by the accumulation of damage and mutations in the cells of our body throughout our lives. Although a large part of the population would prefer not to age, since it encourages the appearance of diseases and different problems, the truth is that it is something that sooner or later we all do.
But for some people, this aging can occur extremely prematurely due to the presence of genetic alterations, to the point of considerably reducing their life expectancy. This is what happens with Werner syndrome which we are going to talk about in this article.
We call Werner syndrome a disorder or disease of genetic origin which is characterized by causing in those who suffer from it premature and extremely accelerated aging, which begins to occur in adulthood (from the age of twenty or thirty, although there is a majority tendency for it to begin to be observed at the end of the third decade of life or at the beginning of the fourth). It is a rare disease with a very low prevalence, being a type of progeria (similar to the best-known disease seen in children, Hutchinson–Gilford syndrome).
The symptoms can be very heterogeneous, but they are all related to cellular aging: hair loss and graying, wrinkles, ulcerations and skin changes, cataracts and retinal problems They are some of the most frequent cardinal symptoms. To this are usually added sclerosis and arteriosclerosis, hypotonia and loss of muscle mass, weight loss and metabolic problems, slowing and loss of reflexes and hypogonadism (also associated with loss of fertility).
They are also very frequent and more serious other problems typical of much older ages of life: osteoporosis, increased likelihood of the appearance of cysts and cancerous tumors (especially sarcomas and melanomas), heart problems, type 2 diabetes, endocrine disorders, decreased libido and neurological disorders.
Unfortunately, the aging generated by this disorder usually leads to a notable decrease in life expectancy, with the average survival being less than fifty years of age. Some of the most common causes of death are cardiovascular problems or the appearance of sarcomas or other types of cancer.
Possible prodromes
Werner syndrome is a disorder that As a general rule, it does not begin to be expressed until adulthood
However, it is possible to see how in many cases it is not uncommon for development problems to exist already in adolescence. Specifically, it is common for there to be a slowdown in development, juvenile cataracts, and low weight and height in relation to what is expected by age.
Causes of this syndrome
Werner syndrome is an autosomal recessive genetic disorder. This implies that The origin of this disease is found in genetics being also congenital and hereditary.
Specifically, in a very high percentage of cases there are different mutations of one of the genes on chromosome 8, the WRN gene This gene is linked, among other things, to the formation of helicases, enzymes involved in the duplication and repair of DNA. Its malfunction generates problems in DNA repair, so that alterations and mutations will begin to accumulate that end up causing aging.
Likewise, also telomeres are affected shortening much earlier than usual and accelerating cellular aging.
However, a small percentage of cases have been observed in which there are no mutations in said gene, and the exact reason for their emergence is not known.
Treatment
Werner syndrome is a very rare condition, having until now received relatively little attention from the scientific community. Being also a genetic disorder, there is currently no treatment that can cure this condition. However, There is research that seeks to find methods to stop accelerated aging and that appear promising in improving protein expression and functionality of the WRN gene, although they are still in the research process and not in the trial phase.
Currently, the only treatment that is applied is fundamentally symptomatic.
For example, problems such as cataracts They have the possibility of being corrected by surgery Surgery may also be necessary in the presence of tumors (which may also require chemotherapy or radiotherapy) or in some cardiac problems (for example, in the case of the need to place a pacemaker). People who suffer from this disorder should also undergo periodic check-ups in order to control and treat heart problems, blood pressure, cholesterol and blood sugar levels, among others.
It is essential to lead an active and healthy lifestyle, with a low-fat diet and regular exercise. Alcohol, tobacco and other drugs can be very harmful and should be avoided. Also physiotherapy and cognitive stimulation They are useful to preserve the functionality of these subjects.
Likewise, the psychological factor is also very important. First of all, psychoeducation will be necessary so that the subject and his or her environment can understand the situation and the possible problems that may arise, as well as guide and jointly develop different guidelines for action to face the difficulties.
Another aspect to especially treat is stress, anxiety and anguish that may probably accompany the diagnosis or suffering from the disease, and it may be necessary to apply different types of therapy such as stress, anger or emotional management or cognitive restructuring.
Working with the patient about what aging means and trying to generate more positive interpretations can be useful. Likewise, through therapies such as systemic family therapy, it is possible to work on the involvement and sensations of each of the components of the environment regarding their experience of the situation.
Lastly, and given that it is a genetic disorder, the use of genetic counseling is recommended in order to detect the alterations that generate the disorder and verify. Although the descendants of these people carry the mutations that cause the disease, it is not common for the disorder to develop unless both parents have it (it is an autosomal recessive disorder).
