Werner syndrome: symptoms, causes and treatment.

A set of alterations with genetic roots that cause accelerated aging.

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, given that it favors the appearance of diseases and different problems, the truth is that sooner or later we all do.

But for some people, this aging can occur exaggeratedly prematurely due to the presence of genetic alterations, to the point of considerably reducing their life expectancy. This is what happens with Werner's syndromeabout which we are going to speak in this article.

Werner's syndrome: the adult progeria

Werner's syndrome is a disorder or disease of genetic origin which is characterized by causing in those who suffer from it a premature and extremely accelerated agingIt begins to occur in adulthood (from the twenties or thirties, although there is a 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 of very low prevalence, being a type of progeria (similar to the best known seen in children, 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. 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) are also common.

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

Unfortunately, the aging caused by this disorder usually leads to a notable decrease in life expectancy, with the average survival rateThe average survival rate is 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's syndrome is a disorder that usually does not begin to express itself until adulthood..

However, it is possible to observe how in many cases it is not uncommon that developmental problems may already exist in adolescence. Specifically, it is common that there is a slowing of development, juvenile cataracts and low weight and height in relation to what is expected for 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.It is also congenital and hereditary.

Specifically, in a very high percentage of cases different mutations of one of the genes of the Werner gene are found. mutations of one of the genes of chromosome 8, the WRN gene, are found in a very high percentage of cases.. 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 start to accumulate and eventually cause aging.

Likewise, telomeres are also telomeres are also affectedThe telomeres are also 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 this gene, and the exact reason for their occurrence is not known.

Treatment

Werner syndrome is a very rare condition, having so far 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 accelerated aging and which appear promising in terms of improving protein expression and WRN gene functionality, although they are still in the research process and not in the trial phase.

At present, the only treatment applied is mainly symptomatic.

For example, problems such as cataracts can be 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 (e.g. the need for a pacemaker). People with this disorder should also have regular check-ups to monitor 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 are also useful to preserve the functionality of these subjects.

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 orienting and jointly elaborating different guidelines for dealing with the difficulties.

Another aspect to be treated in particular is stress, anxiety and anguish. that are likely to accompany the diagnosis or the suffering of the disease, it may be necessary to apply different types of therapy such as stress management, anger or emotion management or cognitive restructuring.

Working with the patient on what aging means for him/her and trying to generate more positive interpretations can be useful. Likewise, through therapies such as systemic family therapy, it is possible to and sensations of each of the components of the environment with respect to their experience of aging. with respect to their experience of the situation.

Finally, and given that this is a genetic disorder, the use of genetic counseling is recommended in order to detect the alterations that generate the disorder and to check. Although the offspring of these individuals carry the mutations that cause the disease, it is unusual for the disorder to develop unless both parents have the disorder (it is an autosomal recessive disorder).

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 Muñoz, C. (2010). Atypical Werner syndrome: atypical progeroid syndrome. Annals of Pediatrics, 73 (2): 67-112.