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 in the cells of our body throughout our lives. Although a large part of the population prefers not to age, as it promotes the development of various diseases and problems, the truth is that it is something that we all do sooner or later.

But for some people, this aging can occur too prematurely due to the presence of genetic alterations, to the point of considerably reducing their life expectancy. This is what happens with Werner’s syndrome, Which we will talk about in this article.

    Werner’s syndrome: adult progeria

    We call Werner’s syndrome a disorder or disease of genetic origin which is characterized by causing in people who suffer premature and extremely accelerated aging, Which begins to occur in adulthood (from twenty or thirty, although there is a majority tendency that begins 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 very low prevalence, being a type of progeria (similar to the best known in children, that of Hutchinson-Gilford syndrome).

    The symptoms can be very heterogeneous, but they are all linked to cellular aging: hair loss and graying, wrinkles, ulcers and skin changes, cataracts and retinal problems are some of the most common cardinal symptoms. In addition, there are usually 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 common and more serious other problems much later in life: Osteoporosis, increased likelihood 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 it usually leads to a marked decrease in life expectancy, The average survival being less than fifty years. Some of the most common causes of death are cardiovascular problems or the development of sarcomas or other cancers.

      possible prodromes

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

      However, it is possible to observe how, in many cases, it is not uncommon for developmental problems to exist as early as adolescence. Specifically, it is common for there to be developmental slowdown, juvenile cataracts, and low weight and height compared to what would be appropriate for their age.

      The causes of this syndrome

      Werner’s syndrome is an autosomal recessive genetic disorder. That implies that the origin of this disease is in genetics, Also being congenital and hereditary.

      Specifically, in a very high percentage of cases they are different mutations in one of the genes on chromosome 8, the WRN gene. This gene is linked, among other things, to the formation of helicases, enzymes linked to DNA duplication and repair. Its dysfunction leads to problems with DNA repair, so alterations and mutations start to accumulate and eventually cause aging.

      Likewise also telomeres are affected, Shortening much earlier than usual and acceleration of cellular aging.

      However, a small percentage of cases have been observed in which there are no mutations in this gene, not knowing exactly why it occurred.

      treatment

      Werner’s syndrome is a very rare disease, having so far received relatively little attention from the scientific community. Being in addition a disorder of genetic type, there is at present no treatment which makes it possible to cure this condition. however, research aims to find methods to curb accelerated aging and that they show promise for improving protein expression and WRN gene functionality, although they are still in the research process and not in the testing phase.

      Currently, the only treatment 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 radiation therapy) or in certain heart problems (for example when faced with the need to place a pacemaker). People with this disorder should also have regular check-ups in order to monitor and be able to treat heart problems, high blood pressure, and cholesterol and blood sugar levels, among others.

      It is essential to lead an active and healthy lifestyle, with a diet low in fat and regular physical activity. Alcohol, tobacco and other drugs can be very harmful and should be avoided. Also physiotherapy and cognitive stimulation they are useful for preserving the functionality of these topics.

      Likewise, the psychological factor is also very important. First of all, psychoeducation will be necessary so that the subject and his environment can understand the situation and the possible problems that may arise, as well as orient and work out together different courses of action to face the difficulties.

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

      It can be helpful to work with the aging patient and try to generate more positive interpretations. In addition, through therapies such as the systemic family work on the involvement and sensations of each of the components of the environment based on their experience of the situation.

      Finally, since it is a genetic disorder, recourse to genetic counseling is recommended in order to detect and verify the alterations that generate the disorder. Although the offspring of these people carry the mutations that cause the disease, it is not uncommon for the disorder to develop until both parents have it (this is an autosomal recessive disorder).

      Bibliographical references:

      • Acevedo, A., J Fernández, J. and Salas, E. (2006). Adult progeria (Werner’s syndrome). Follow-up of 2 primary care cases. Semergen, 32: 410-4. Elsevier.
      • Agrelo, R., Arocena, M., Setien, F., Aldunate, F., Esteller, M., Da Costa, V and Achenbach, R. (2015). A new mutation in Werner’s syndrome: pharmacological treatment by reading absurd mutations and epigenetic therapies. Epigenetics, 10 (4): 329-341.
      • Barris, A. and Muñoz, C. (2010). Atypical Werner Syndrome: Atypical progeroid syndrome. Annals of Pediatrics, 73 (2): 67-112.

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