Aging is a natural process that is part of human life. Progeria is a word for “accelerated aging”. It is a rare condition, which is sometimes hereditary. The normal Progeria in children is called Hutching-Gilfford Progeria Syndrome, where the disease becomes visible at a very young age. In the hereditary form, the Werner Syndrome, aging occurs during or after puberty. It is therefore also called Progeria in adults.
What is Werner Syndrome?
Werner Syndrome is a rare disease. The disease is hereditary and the inheritance is autosomal recessive. Autosomal means it affects both girls and boys. Resessive means that the disease only occurs when both parents transfer the diseased gene to the child.The Werner Syndrome is a form of Progeria. Because the disease develops later, it is also called Progeria in adults.Progeria is a rare condition that causes premature aging.The Werner Syndrome leads to a shortened lifespan and a large number of symptoms such as baldness, lens clouding, osteoporosis, arteriosclerosis, diabetes and lipid metabolism disorders such as aging. With Werner Syndrome, patients often appear much older than they are. They are usually estimated to be 20 years older. The aging process in these patients is two times faster than normal.
Cause
The cause is a hereditary defect in the DNA. Due to a mutation (change) on chromosome 8, the Helicase enzyme is missing. This disrupts certain DNA processes. There is an accelerated shortening of telomeres (ends of chromosomes), resulting in cells living shorter.Helicase is a group of enzymes that play an important role in DNA replication. Helicase ensures de-spiralization of DNA, repair of DNA and separation of chromosomes
How often and to whom does it occur?
The Werner Syndrome is hereditary. If both couples are carriers of the abnormality, they have a 25% chance of having a child with Werner Syndrome.The syndrome is more commonly seen in Japan and Sardinia, but it can occur all over the world. It has nothing to do with skin color or race.Werner Syndrome generally affects 1 in 1 million people. In Japan there is a higher frequency, namely 3 in a million.Werner’s syndrome is named after a German scientist: Dr Otto Werner. As a student he described the syndrome in 1904.
The symptoms
Werner Syndrome is hereditary, but most symptoms begin in or after puberty. The syndrome is often seen around the age of thirty.The development from baby to puberty is often very normal. During or after puberty, rapid aging of the body takes place. The first symptoms soon become visible.
Typically characteristic of Werner syndrome:
- Thin arms
- Thin legs
- Large torso in proportion to the limbs.
- Often a pointed nose
- Short Body Height
The first symptoms are:
- Problems with growth and puberty
- Loss and graying of hair.
- Wrinkles
- Sagging of the face
- Reduced muscle mass
- High voice
- Loss of subcutaneous fat
Later may arise:
- Scleroderma (hardening of the skin. Also in organs such as esophagus, lungs, kidneys, heart, blood vessels and muscles)
- Diabetes Mellitus
- Osteoporosis (bone breakdown, weakened bones)
- Cataract (cataract/clouding of the lens of the eye)
- Early menopause in women
- Thyroid cancer (due to increased production of the hormone Calcitonin)
- Tumor in the lymphatic system
- Sarcoma (malignant growth of the connective and supporting tissue)
- Atherosclerosis (clogging of the arteries/blood vessels)
- Heart disease
The treatment
There are no specific treatments for Werner Syndrome. However, some symptoms can be alleviated and some serious complications can be postponed quite a bit.The Werner Syndrome is a form that is very similar in symptoms to those of Progeria that occurs in children. (with the exception of Cataract and the malignant growths). The treatment is therefore approximately the same.See article: Progeria – Hutchinson-Gilford Progeria Syndrome
The prognosis
However, the prognosis (outlook) is not good. Patients with Werner Syndrome usually die between the ages of 40 and 50. This is due to heart disease or malignant growth (cancer/tumors).