Werner’s Syndrome

Werner’s syndrome skin

Last Updated December 20th, 2021

Overview of Werner’s syndrome

Aging is a natural process which is accelerated in some people. This means, that the symptoms of aging appear much before the expected time. Werner’s syndrome is one such disease where aging is abnormally accelerated and the onset is observed at a much early stage. It is extremely rare and has a global frequency of less than 1 in 1,00,000 people.

 

What is Werner’s syndrome?

Werner’s syndrome inheritenceWerner’s syndrome is a rare autosomal recessive progeroid syndrome, which is characterized by premature aging. It is normally observed in young or middle-aged adults and hence is also called adult progeria. The disease gets its name from the German scientist Otto Werner. He first identified the syndrome in the year 1904, when he researched on the premature aging syndromes found in four siblings. The patients, in this case, show normal growth and development until puberty. The disease is diagnosed around the age of 24 when the growth rate becomes somewhat retarded. Till date, the youngest person diagnosed was only of 6 years old. These patients are found to have premature death. The median ages of death are 47-48 years and the mean is 54 years. Most of the death cases have occurred due to either cardiovascular diseases or malignancy.

 

How would you differentiate between Werner’s Syndrome and Progeria?

Werner’s syndrome is often classified as a type of Progeria. But it is not exactly the same disease. Progeria is usually present at birth and the patients fail to survive beyond 14-15 years. On the other hand, patients of Werner’s syndrome live till 47-54 years. Also there are certain peculiar manifestations in Progeria which are not found in Werner’s syndrome. Some of these features are-

  • Delayed teeth formation
  • Crowded and impacted teeth
  • Malformed pear-shaped thorax
  • Irregular bumps on the skin
  • Bulging out eyes
  • Shuffling and a wide-based gait
  • Projecting ears, with no earlobes
  • Formation of an abnormally curved nasal tip
  • Pinched nose
  • Prominent and protruded veins on the scalp
  • Dystrophic nails
  • Delayed closure and stability of the anterior fontanelle

Werner’s syndrome presents with the normal features of aging. Hence a careful and accurate diagnosis is required in order to avoid erroneous treatment.

 

What causes Werner’s syndrome?

Werner’s syndrome skinResearch results and case studies have shown that the main gene responsible for Werner’s syndrome is the WRN gene, which lies on the chromosome 8 in humans. This is observed in 90% of the cases. This WRN encodes the WRNp protein, which is a 1432 amino acid protein. It has a central domain that resembles the members of the RecQ helicases. These RecQ helicases are integral to maintaining the stability of the DNA. Loss of functions of these helicases predisposes a person to Werner’s syndrome. 35 different types of mutations have been identified so far that have may lead to Werner’s syndrome. These mutations are directly related to the stop codons, insertions, and deletions and are known as frameshift mutations. These mutations may lead to-

  • Reduction in the stability of the transcribed messenger RNA (mRNA)
  • Increase in the rate of degradation of the mRNA
  • Shortening of the WRNp protein
  • Loss of nuclear localization signal sequence of the WRNp protein
  • Reduced transportation of the WRNp protein to the nucleus
  • Significant loss of DNA repair
  • Reduction in p53-dependent apoptosis
  • Increased rate of survival of the dysfunctional cells

The accumulation of the damaged cells resulting from these types of mutations results in the truncation of the telomeres over the years. This explains why the symptoms of Werner’s syndrome appear only after an individual is above 20.

 

What are the main characteristics of Werner’s syndrome?

As discussed earlier, Werner’s syndrome is characterised by early aging and other associated syndromes. The main clinical characteristics of Werner’s syndrome are discussed below-

  • Short Stature
  • Premature retardation of growth
  • Greyish discolouration of hair
  • Profuse hair loss (alopecia)
  • Appearance of bald patches
  • Wrinkled skin
  • Beaked noses
  • Wasting away of the skin (skin atrophy)
  • Scleroderma-like lesions
  • Excessive loss of fat tissues (lipodystrophy)
  • Abnormal thinning of the legs and arms (due to abnormal fat deposition)
  • Ulcer formation (mostly around the Achilles tendon and malleoli)
  • Alterations in voice pattern and pitch (weak, gruff and high-pitched voice)
  • Reduction in fertility due to the atrophy of the gonads
  • Clouding of the lenses (unilateral or bilateral)
  • Abnormal thickening and loss of elasticity of the arteries (premature arteriosclerosis)
  • Calcium deposits in the blood vessels (calcinosis)
  • Obstruction of blood vessels, often due to plaque formation or arterial constriction (atherosclerosis)
  • Type 2 Diabetes Mellitus
  • Loss of bone minerals and bone mass (osteoporosis)
  • Appearance of spider veins (Telangiectasia)
  • Rare varieties of cancers such as meningiomas

 

Diagnosis, treatment, and prevention

The doctors normally recommend the following diagnostic tests for detecting the presence of Werner’s syndrome-

  • Urinary hyaluronic acid testing: The patients exhibit an abnormally high concentration of hyaluronic acid in the urine and low levels of the essential antioxidant enzymes in the blood.
  • Prenatal testing: Werner’s syndrome can be detected in the prenatal stage itself by analyzing the DNA extracted from the fetal cells.

werner's syndrome arteriosclerosisOne should remember that Werner’s syndrome doesn’t have a cure. The treatment method includes close monitoring of the symptoms and providing symptomatic relief for the same. Since the premature aging of patients is irreversible, doctors aim at slowing this process as much as possible to potentially counter the adverse effects. It is important that the patient gets regularly screened and tested for typically associated conditions such as cataract, cancer, skin conditions, heart disorders, and also diabetes. The patients are also administered vitamin C supplements which tend to oppose oxidative stress and hence slow down aging. Physiotherapy is helpful in alleviating pain from bone degeneration. Werner’s syndrome cannot be prevented. But its likelihood can be reduced by:

  • Genetic counselling if the condition runs in the family or has occurred once.
  • Prenatal testing to detect any abnormality in the fetus.

 

 

Dos and Don'ts

Dos
  • Seek immediate medical help in case of breakouts of ulcers on the skin.
  • Go for regular cancer screening, if one has been diagnosed with Werner’s syndrome.
  • Regulate diet and exercise routine in order to prevent the onset of cardiovascular diseases such as atherosclerosis.
Don'ts
  • Ignore the typical signs and symptoms of Werner’s syndrome such as premature aging of skin and osteoporosis that start appearing during the 30s.
  • Neglect delayed or absence of growth spurt during puberty. This is a classic sign of Werner’s syndrome.
  • Follow faulty dietary habits such as high fat and sugar consumption. Refrain from alcohol consumption and smoking (anything that is a potential carcinogen).

 

 

 

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Anti hepatitis E virus (Anti HEV) IgM Test Anti HEV IgM test determines the level of the IgM antibodies in the blood, The disease is often…
18 instant steps to make your jogging routine more powerful Jogging is a form of Aerobic Endurance training which includes running at a slow pace. Jogging is slower…
Bromelain: 11 reasons why you should start adding pineapple to your pizza! If you didn't love pineapples already, here are some of the top health benefits that bromelain can bring…
eating disorder anorexia
Eating Disorders: Lifestyle choice or a psychological condition? Is eating disorder just a harmless bad habit? Or does it represent grim psychological disorders? Do you want…
11 unbelievable health benefits of thyme you didn’t know! Thyme is a herb that has been used in alternative medicine.It is a well known seasoning in the…
blood elements analysis
Vitamin Profile Your doctor will recommend you undergo the vitamin profile test if you are showing signs of either vitamin…
Salt dangers
Sodium chloride: The wonders and dangers of the simple table salt Sodium chloride is a salt containing sodium and chlorine ions at a 1:1 ratio. It is edible and…
myelogram
Myelography Myelography is an important diagnostic tool that is used to investigate and identify abnormalities in the spine and…
complement c4 test
Complement 4 (C4) Test The Complement 4 or C4 test measures the level of the protein in the bloodstream, and is primarily…
ureteroscopy
Ureteroscopy Ureteroscopy is the diagnostic procedure which is used for the detection of the kidney stones in addition to…
shiitake mushrooms healthy
What are Shiitake Mushrooms and why should you eat them? Shiitake Mushrooms are well known for their smoky and robust taste. However, did you know they are replete…
High Fiber Diet – Fire up your fiber intake for these health benefits! Regular bowels, healthy detox, higher immunity, and guaranteed weight loss - a high fiber diet can bring all…
CEA_test
Carcinoembryonic antigen (CEA) test CEA or carcinoembryonic test detects the presence of CEA antigen in your blood mainly & determines the effectiveness…
toxo gondii igm test
Toxo Gondii-IgM Test The toxo gondii IgM test is a blood test that tells the presence or absence of toxoplasmosis IgM…
anti-chlamydia antibody tets
Anti-Chlamydia Antibody -IgG Test Anti-Chlamydia Antibody - IgG test is performed by collection of urine or genital fluids as sample for testing…
L-theanine attention
L-Theanine: Better sleep, higher focus, and many other benefits Did you know that L-theanine found in green tea can make you sleep better and be focused at…
How to correctly perform nasal irrigation using a Neti Pot? Neti pot has been a part of Ayurveda since centuries. This ancient tool is extremely effective in treating…
Top reasons why you need to pay attention to your vitamin B6 intake Vitamin B6- An essential water-soluble vitamin. Its deficiency leads to physical changes such as sores & glossy tongue…
sodium chloride
Halotherapy: How inhaling salt can work wonders for your body Halotherapy is quickly gaining popularity amongst those with respiratory diseases. It has shown promise in its treatment.
free psa test
Free PSA Test The free PSA test is used to detect the level or percentage of free PSA in the body…
Okra: How can this nutrient-dense vegetable help you fight diabetes? Okra is a food which is rich in nutrients and minerals which are extremely essential for a healthy…
Miracle extract from the root of maca: 10 ways it can help you! Maca root has been used for years in herbal medicine. Today scientific research is unearthing fresh evidence in…
lp-pla2
LP-PLA2 Test The LP-PLA2 test is a test which is carried out to assess the levels of Lipoprotein-Associated Phospholipase A2…
stain blood
Blood in your stool Know the reason for blood in your stool, toilet bowl or tissue and the important steps to take…
Lauric Acid: 8 health benefits you can derive from coconuts Appropriate use of saturated fats containing lauric acid can provide you numerous health benefits. This is the main…
piles
Best treatment for piles in Bangalore All you need to know about piles and piles treatment in Bangalore - the types of treatment available,…
lose weight fast
12 easy and instant steps to successful weight loss Do you want to lose weight without losing your mind? Does weight loss always mean saying goodbye to…
PREGNANCY
Pregnancy During pregnancy, the body undergoes a number of biological and physical changes to accommodate and provide for the…
Ear pain model
Easy and safe tips for ear wax removal you can do at home Cerumen impaction generally occurs when an external object like cotton swabs are used to remove the ear wax.…
Crossfit with rope
CrossFit: Now get the perfectly sculpted body with this explosive gym routine CrossFit is a fitness regimen that makes use of high-intensity exercises in a shorter period to achieve muscle…
Krill Oil: Does the solution to human illnesses really lie at the depths of the ocean? The word "krill" means “small fry of fish” in Norwegian. They are usually the primary food source of…
Tart Cherry: The healthiest excuse for taking that second serving of pie Tart cherry has been traditionally used in delectable desserts such as pies. Recent studies have revealed that its…
Hot cups for detox? Read all about the ancient technique of cupping Did you know inverted hot cups on your back can squeeze out and eject toxins from your body?…
yoga health benefits
How to practice yoga for astounding health benefits Can a 5000-year-old system be the ultimate body healer? Did you know yoga can make you smarter and…

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