What is Progeria?
Progeria or meaning prematurely old is a rare and fatal genetic condition in which children exhibit symptoms resembling aging. It is also known as Hutchinson–Gilford progeria syndrome, Hutchinson–Gilford syndrome and Progeria syndrome.
Jonathan Hutchinson was the first to describe progeria in 1886. Later, in 1897, Hastings Gilford independently recorded the syndrome. The name Hutchinson–Gilford progeria syndrome came to being because of this. Researchers have great interest in progeria as it can shed light on the normal process of aging which can be observed at an accelerated pace in progeria patients.
Progeria is extremely rare and currently there are about 35-45 known cases in the world. About 100 cases have been identified in medical history. Progeria is not hereditary and cannot be carried forward from parent to child as affected children do not usually live long enough to have children themselves.
Causes of Progeria
Progeria is caused due to a mutation in the gene that encodes Lamin A. Lamin A is a protein that holds the nucleus of the cell together. Due to the mutation, Lamin A is rendered unusable because of the thymine replacing the cytosine in it. This instability in the cell causes the ageing process in progeria patients. Progeria syndrome is not believed to be hereditary.
Diagnosis of Progeria
Diagnosis is done based on the symptoms and signs shown by the patient such as hair loss, skin allergies and abnormal growth. Genetic tests can also be done to confirm the presence of progeria.
Prognosis of Progeria
Progeria does not currently have a cure. Although symptoms that are exhibited such as heart problems can be treated. Most children live to an average age of 13 and the disease is as rare as 1 in 4 million births. Mental development of patients is unaffected but signs of accelerated aging are evident. Although symptoms that are similar to aging occur 8 to 10 times quicker than a normal person, conditions typically associated with aging don’t occur. Neurodegeneration, cancer, cataract, osteoarthritis and normal wear and tear of the body does not occur in children with progeria. Respiratory, cardiovascular and arthritic problems can be treated with appropriate medication or corrective surgery.
Ongoing research into the causes and possible cure for progeria has led to many a discovery about the disease and a better understanding of it. Progeria is caused by the mutation on chromosome one in the Lamin A protein and this form of Lamin A is called progerin.
Hutchinson–Gilford progeria syndrome has been found to exist in mouse although the Lamin A protein in mouse is not mutated. FTI has been used in the mouse and it has been found that their grip strength has increased. There is a reduced risk of rib fractures and treated mice have been found to live longer than untreated mice.
Risk Factors of Progeria
The major risks that are typically associated with Hutchinson–Gilford progeria syndrome are heart attacks and strokes. Heart attacks or myocardial infarctions are caused when the blood vessels that supply blood to the heart are blocked thereby reducing the amount of oxygen received by the heart. Heart attacks permanently damage the heart muscle. A stroke which was previously known as cerebrovascular accident (CVA) is caused when the blood supply to the brain is disturbed. This can happen due to a lack of blood flow caused by a block or hemorrhage resulting in inability to move one or more limbs on one side of the body, loss of vision and ability to understand or formulate speech.
Symptoms of Progeria
- Growth failure
- Narrow, shrunken or wrinkled face
- Loss of eyebrows and eyelashes
- Large head
- Small jaw
- Pinched nose
- Skin conditions
- Small, fragile bodies
- Cardiovascular problems
Treatment for Progeria
There is no effective treatment for people with progeria. Complications like cardiovascular problems can be avoided by having bypass surgeries done. Low doses of aspirin also help children with progeria. A diet that is high in calories can also be beneficial to progeria patients.
Farnesyltransferase inhibitors (FTIs), a cancer drug has been suggested for use in Progeria syndrome patients but it has been restricted to animal testing and is yet to be administered to children. The FTI Lonafarnib has been in its clinical trial (Phase II) since May 2007.