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Progeria

progeria
Atefa Noorain
Atefa Noorain
July11/ 2016


Progeria is a rare genetic disorder. It is also called as Hutchinson-Gilford progeria syndrome. Progeria is derived from Greek word “pro” and “gera”. The Greek word “pro” means premature or early and “gera” means old age. This disease is seen in all age groups and in both males and females. Progeria cases are seen 1 in 4 to 8 million births globally. Patients suffering with progeria have a very short life span. Progeria patients survive not more than 13 years. In few cases the patients suffering with progeria dies in early childhood. The Greek word progeria means early old age. Progeria is not an inherited disease.

Symptoms

The visible symptoms are not seen in progeria patients in the first year of birth. The symptoms start appearing after a year. Children suffering with progeria do not gain weight in the early childhood. The visible progeria symptoms include:

  • Large head
  • Large eyes
  • Loss of hair
  • Hip dislocation
  • Protruding ears
  • Thin nose with beaked tip
  • Thin lips
  • Small lower jaw
  • Visible veins
  • Abnormal and slow tooth growth
  • Loss of body fat and muscle fat
  • Loss of eyelashes and eyebrows
  • Skin starts aging
  • Stiffness in joints
  • Partial or total alopecia
  • Nail dystrophy
  • Small and soft out pouching of the skin over the abdomen and thighs
  • Hearing problems
  • Partial lack of secondary tooth eruption
  • Dental crowding
  • Excessive ocular tearing

Complications

The major complications seen in progeria are stroke, atherosclerosis and arteriosclerosis.

  • Stroke – Stroke is seen in patients when the blood supply to the brain is interrupted. When the blood supply is interrupted it results in reduced amount of oxygen supply to the brain. When the oxygen supply is reduced it results in death of the brain cells and eventually the person dies.
  • Atherosclerosis or heart disease– Atherosclerosis is a condition where the blood flow is disrupted due to the formation of plaques around the artery wall. The narrowing of arteries is seen due to plaque formation. Arteries contain a layer of cells called endothelium which helps in easy blood flow. Damage of endothelium leads to atherosclerosis.
  • Arteriosclerosis – The stiffening or hardening of artery walls are seen in arteriosclerotic patients.

 

Causes

Gene mutation is the main cause for progeria or Hutchinson-Gilford syndrome. Mutation in LMNA gene causes progeria.The LMNA gene is responsible to provide instructions for making a protein call Lamin A. LMNA genes codes for 2 proteins Lamin A and Lamin C. The Lamin A protein helps in maintaining integrity of the cells. The shape of the nucleus within the cells is determined by lamin A protein. Lamin A protein is the supporting component of the nuclear envelope. Mutation in LMNA gene results in production of abnormal lamin A protein. Patients suffering with Hutchinson-Gilford progeria syndrome have abnormal lamin A protein. Abnormal production of lamin A protein results in instability of nuclear envelope. The nuclear envelope instability progressively damages the nucleus. Hutchinson Gilford progeria syndrome is caused due to the presence of altered gene in both parents cells. The presence of altered gene in both cells results in production of abnormal protein which can cause nuclear damage. Progeria occurs due to the new mutation in LMNA gene. It is not necessary that parents should have progeria. Any healthy person who carries these abnormal proteins suffers from Hutchinson-Gilford progeria syndrome. The Progeria patients shows change in one element of DNA within the LMNA gene. Such small change in gene is referred to as point mutation.

 Diagnosis

Patients can be diagnosed with progeria in the early stages of disease. The symptoms are visible and you should consult a doctor when you see progeria symptoms in your child. Physical examination along with hearing and vision test is done. Mutation scanning of entire coding region is done. Mutation scanning helps in identifying the LMNA gene undergoing mutation. Previously Hutchinson Guilford syndrome is diagnosed only with clinical examination like overall looks and X-ray. Earlier the skin changes and failure to gain weight were the only symptoms based on which the disease was diagnosed by doctors.

Amniocentesis is a method used to test progeria. Amniocentesis is a prenatal diagnosis procedure which tests the chromosomal abnormalities and foetal infections. The sample for amniocentesis is amniotic fluid containing foetal tissues. The amniotic fluid present in amniotic sac is used for diagnosis. Amniocentesis is also used for sex determination. Two types of tests are done with the same amniotic fluid sample to diagnose progeria.

Treatment

Drugs – The cancer drugs Farnesyltransferase inhibitors are used to progeria. Farnesyltransferase inhibitors alter the nuclear structure abnormalities causing progeria. Clinical trials are done in mice for progeria drug and positive results were seen in mice. Researchers have decided to use farnesyltransferase inhibitor in progeria patients. In September 2012 the first clinical trial test was done on human child suffering with progeria. The clinical trial results showed significant improvement in weight gain, bone structure and cardiovascular system.

Therapy – Physiotherapy or occupational therapy is generally used to treat patients suffering with Hutchinson Guilford progeria patients. Physiotherapy helps in curing stiff joints and hip problems. Children who face problem in moving joints due to stiffness are advised to go for physiotherapy sessions.

Surgery- Surgeries are done in extreme cases of progeria. Coronary bypass surgery or angioplasty is done in patients to avoid progression heart disease. The Hutchinson Guilford progeria patients are at high risk of heart disease. Progeria patients need surgery to avoid further complications.

Children suffering with progeria experience dehydration. Dehydration can be controlled by drinking plenty of water in a day. Loss of appetite can be treated by giving small meals to the patients which help them in consuming required amount of food. Cushioned shoes are preferred for progeria patients to ease the discomfort caused due to muscle stiffness. Children with cushioned shoes can play more actively while suffering with progeria.

The scientist will be able to research and develop a drug significantly for progeria in the near future. The mortality cases be reduced and the life span of the patient can be increased to more than 20 years.

Atefa Noorain
Atefa Noorain

Atefa Noorain, (Microbiologist) former Head of the Department of Life Sciences, Assistant Professor of Microbiology at Sujatha Degree College for Women. She worked as an Associate Research Analyst at Thomson Reuters and an Associate Editor of two research journals. She has presented her research work in 3 International Conferences. She has written articles for national journals and international journals. She had been felicitated as a Young Speaker in the last conference. She has worked on Nanoparticles as a part of her research project and won the Best Scientist of the Day award.

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