Werner syndrome
| Classification according to ICD-10 | |
|---|---|
| E34.8 | Other specified endocrine disorders |
| ICD-10 online (WHO version 2019) | |
The Werner syndrome , named after the German physician Otto Werner (1879-1936), is an autosomal - recessive disease , especially mesodermal tissue , leading to a premature onset of about midlife aging ( progeria leads). It is a juvenile segmental progeroid syndrome and is one of the chromosome break syndromes .
Synonyms are: Progeria adultorum, Rabbiosi syndrome ; english adult progeria
genetics
When autosomal - recessive hereditary Werner syndrome is a defect on the short arm of the WRN gene (also called RecQL2) chromosome 8 (p12-p11.2) before that for a DNA helicase encoded the RecQ family. These proteins are involved in repairing damage to the genome . The defect in the WRN gene leads to an increased mutation rate, especially DNA deletions , and to a rapid shortening of the telomeres . It is generally believed that errors in the replication of DNA will increase.
Epidemiology
Werner syndrome is a very rare disease. It occurs more and more in Japan. The literature gives a frequency of about 3: 1,000,000 there. As is typical for autosomal recessive diseases, the risk of an illness seems to be increased in children due to kinship.
Symptoms
Those affected develop normally until puberty. The symptoms of this juvenile segmental progeroid syndrome set in in patients with Werner syndrome around puberty , the first signs are reduced height and a weak, high-pitched voice. The full picture of the disease usually manifests itself from the age of 30. The patients appear old in early adulthood, they have a thin, translucent skin ( dystrophy ) that calcified with increasing age; there is a loss of subcutaneous fat and pigmentation . In addition, there are typical signs of aging, whitish, sparse hair, cataracts , type II diabetes mellitus , arteriosclerosis, muscle loss and osteoporosis . Due to the high mutation rate, malignant tumors (in contrast to the tumors of normal aging mainly sarcomas ) are often described in patients with Werner syndrome , which, in addition to the complications of arteriosclerotic changes ( myocardial infarction , apoplexy ), are usually life-limiting. Most patients die before the age of 50.
Differential diagnosis
Among other things, the Flynn-Aird syndrome or CARASIL must be distinguished .
therapy
A causal therapy is still not possible. Treatment is limited to the prophylaxis and therapy of complications.
research
The Leibniz Institute for Aging Research in Jena, headed by Peter Herrlich, tries to decipher the mechanisms of aging and the development of diseases of old age. The aim is also to make the ailments caused by age-related diseases ( geriatrics ) more bearable in the course of researching the factors influencing longevity and aging . In addition to neurodegenerative diseases such as Alzheimer's dementia , this also includes molecular aspects of Werner syndrome.
literature
- D. Lessel, J. Oshima, C. Kubisch: Werner Syndrome. A prototypical form of segmental progeria. In: Med Genet. Volume 24, No. 4, (December) 2012, pp. 262-267. PMC 4191733 (free full text).
- G. Rabbiosi, G. Borroni: Werner's syndrome: seven cases in one family. In: Dermatologica. Volume 158, Number 5, 1979, pp. 355-360, PMID 437224 .
