Werner syndrome: symptoms, causes and treatment

Aging is a natural phenomenon, the product of wear and tear caused by the accumulation of damage and mutations of the cells of our body throughout our lives. Although a large part of the population would prefer not to age, since it favors 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 excessively prematurely due to the presence of genetic alterations, to the point of considerably reducing their life expectancy. This is what happens with Werner syndrome, about which we are going to talk in this article.

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Werner syndrome: adult progeria

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 the adult stage (from the age of twenty or thirty, although there is the majority trend of beginning to be observed at the end of the third decade of life or at the beginning of the quarter). It is a rare disease with a very low prevalence, being a type of progeria (similar to the best known seen in children, that of Hutchinson-Gilford syndrome).

The symptoms can be very heterogeneous, but all of them are related to cellular aging: hair loss and graying, wrinkles, ulcerations and skin changes, cataracts and retinal problems are some of the most frequent cardinal symptoms. To this are often added sclerosis and arteriosclerosis, hypotonia and loss of muscle mass, weight loss and metabolic problems, slowing down and loss of reflexes and hypogonadism (also associated with loss of fertility).

They are also very frequent and more serious other problems typical of the much more advanced ages of life: osteoporosis, increased probability of cysts and cancerous tumors (especially sarcomas and melanomas), heart problems, type 2 diabetes, endocrine disturbances, decreased libido, and neurological.

Unfortunately, the aging generated by this disorder often leads to a noticeable 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.

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Possible prodromes

Werner syndrome is a disorder that as a general rule, it does not begin to express itself until adulthood.

However, it is possible to observe how in many cases it is not infrequent that already in adolescence there may be development problems. 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 lies 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 DNA duplication and repair. 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 cell 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 appearance 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 to cure this condition. However, there is research that seeks to find methods to slow down accelerated aging and that seem promising when it comes to improving the expression of proteins and the functionality of the WRN gene, although they are still under investigation and not in the testing phase.

At present, 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 heart problems (for example, before the need to place a pacemaker). People who suffer from this disorder should also undergo regular check-ups in order to control and to be able to treat heart problems, blood pressure and 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. In the first place, psychoeducation will be necessary so that the subject and her environment can understand the situation and the possible problems that may arise, as well as guide and jointly develop different action guidelines to deal with the difficulties.

Another aspect to treat especially is stress, anxiety and anguish that may probably accompany the diagnosis or suffering of the disease, and it may be necessary to apply different types of therapy such as stress, anger or emotional management or restructuring cognitive.

Working with the patient what it means for aging 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 about your experience of the situation.

Finally, and since it is a genetic disorder, the use of genetic counseling is recommended in order to detect the alterations that generate the disorder and verify it. Although the descendants of these people carry the mutations that cause the disease, it is not common disorder to develop unless both parents have it (it is an autosomal disorder recessive).

Bibliographic references:

• Acevedo, A., J Fernández, J. & Salas, E. (2006). Adult Progeria (Werner syndrome). Follow-up of 2 cases from Primary Care. Semergen, 32: 410-4. Elsevier.
• Agrelo, R., Arocena, M., Setien, F., Aldunate, F., Esteller, M., Da Costa, V & Achenbach, R. (2015). A novel Werner Syndrome mutation: pharmacological treatment by read-through of nonsense mutations and epigenetic therapies. Epigenetics, 10 (4): 329-341.
• Barrios, a. and Munoz, C. (2010). Atypical Werner syndrome: atypical progeroid syndrome. Annals of Pediatrics, 73 (2): 67-112.