Werner syndrome

Werner syndrome ( adult progeria English, named after the German physician Otto Werner ( 1879-1936 ) ) is an autosomal recessive disorder mainly of mesodermal tissue, leading to a massive onset approximately at mid-life aging ( progeria ) leads. It is one of the chromosome breakage syndromes.

Genetics

In an autosomal recessive hereditary Werner syndrome, a defect of the gene is RecQL1 (also called IND ) on the short arm of chromosome 8 ( p12 - p11.2 ) before encoding a DNA helicase the RecQ family. These proteins are involved in the repair of damage to the genetic material. The defect in the WRN gene results in an increased mutation rate, in particular DNA deletions and a rapid shortening of the telomeres. Generally, the increase of errors in the replication of DNA is accepted.

Epidemiology

Werner syndrome is a very rare disease. It is increasingly available in Japan. The literature gives a frequency of about 3 for there: at 1,000,000. The risk of disease seems - to be increased in children from kinship vision - as is typical for autosomal recessive diseases.

Symptoms

Until puberty, the affected develop normally. The Onset of symptoms in patients with Werner's syndrome, an approximately puberty, first signs are a reduced linear growth and weak and high-pitched voice. The full picture of the disease manifests itself mostly after age 30. Patients appear already in early adulthood age, they have a thin, translucent skin ( dystrophy ), the calcified with age; results in a loss of subcutaneous adipose tissue and pigmentation. Besides impress typical signs of aging, whitish, sparse hair, cataracts, diabetes mellitus type II, atherosclerosis, muscle wasting and osteoporosis. Due to the high mutation rate of malignant tumors ( in contrast to the normal aging processes, especially tumors sarcomas) described in patients with Werner's syndrome often that in addition to the complications of atherosclerotic changes (myocardial infarction, stroke ) is typically a limiting life. Most patients die before age 50.

Therapy

A causal therapy is not possible until now. The treatment is limited to the prevention and treatment of complications.

Research

Tries, the Leibniz Institute for Age Research in Jena under the direction of Professor Peter Herrlich to decipher mechanisms of aging and the onset of age-related diseases. The aim is also to make more bearable caused suffering in the course of exploration of the factors for longevity and aging, aging- related diseases ( Geriatrics ). In addition to neurodegenerative diseases such as Alzheimer's dementia will also include molecular aspects of Werner syndrome.