Huge Step in Progeria Understanding and Promising Treatments - Printable Version
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Huge Step in Progeria Understanding and Promising Treatments - sale0303 - 05-21-2013
In modern classification, progeria has few different varieties, but most common is Hutchinson Gilford Progeria. Progeria or Hutchinson Gilford Progeria Syndrome is very rare genetic disease. This disease is known as extreme aging disease. Characteristic of these patients is that they are children and their mortality is very high between age of 7 and 20. This severe disease occurs in one patient in 8 million live births. Genetic basis of this disease is mutation, that means it is cannot be inherited. Symptoms of this disease are manifested in first few months. Main symptoms of Hutchinson Gilford Progeria are wrinkled skin, atherosclerosis, loss of eyesight and kidney failure. Their body is very fragile like those of elderly people.
According to several researches, progeria is caused by a gene mutation. People without this mutation have normal LMNA gene which creates Lamin A protein. This protein is responsible for keeping the cell nucleus together. People with progeria, have mutation on LMNA gene, and this mutated gene produces defective Lamin A proteins. These defective Lamin A proteins make their cells unstable.
This disease is very rare, maybe few hundred people have these severe disease, but it intrigued scientists because finding a cure for this disease could give answers for aging process.
Current progeria treatment
There is no cure for progeria, but cardiovascular monitoring could help in treatment of progeria disease. Low dose aspirin, symptomatic drugs such as use of growth hormone, statins to lower cholesterol level and other could be used in treatment of progeria.
Experimental drug could prolong life
Researchers have discovered the first drug to treat progeria. Farnesyl transferase inhibitors is a new medicine which could help people with this severe disease. This drug, called lonafarnib, is not a drug that can cure this disease. This medication has shown that it can reverse changes in blood vessels which can cause strokes and heart attacks. Another benefit for children with this disease could be possibility to put on weight and improve structure of their weak bones.
However, because of the length of the study, scientists are not sure can the treatment prevent an early death or not. But, observations of the parents are also important. Mothers of children with progeria noticed that when their children took lonafarnib, they had more energy, concentration, and also they slept and ate better. These observations can be very helpful in further researches, because they implicate that lonafarnib had positive effects on their children.
Of course, these findings are just a beginning of future experiments. In presence, few studies are under way to reveal is there a better solution for progeria treatment with maybe, combination of two or more medications. All these researches could help us understand how aging takes its place in our individual cells. The most fascinating thing that scientists didn’t know what causes progeria for a decade ago.
The newest discoveries in progeria treatment
Recently, researchers have discovered that drug that inhibit an enzyme in living organism can help in progeria treatment. In Sahlgrenska Academy in Sweden, researchers have discovered significant improvement in mice with progeria when production of certain enzyme is inhibited.
Researches believe that this finding could be crucial for further understanding and treating of progeria. They have proven that symptoms of progeria are definitely reduced or even blocked when certain enzyme is inhibited. Also, they have compared their findings on mice with cultured cells of children, and they came to conclusion that the growth of human cells is almost identical with mice cells. This target enzyme is called ICMT. This enzyme attaches a very small chemical group to one end of prelamin A. When scientists discovered this, they focused on it, and began research to prevent small chemical group attachment to prelamin A. They succeeded in their intention, and they have managed to block this enzyme. When ICMT is blocked, chances for progeria development are significantly reduced.
Group of scientists from Singapore has developed new medicine for progeria treatment. However, this candidate drug is based on ICMT inhibition, and it is still under research, but as soon as this candidate drug is ready, it will be examined on mice. Of course, time will show wheather this drug is appropriate for treatment of progeria or not. This findings are maybe even bigger than we can imagine, because people affected with progeria are not so big population, just few hundreds of them, and it is really interesting how big interest is for this disease.
Summary and conclusion
Progeria is disease that was almost unknown for a decade ago. However, big efforts of scientists have shown results. Now, we understand better what progeria is, and how it could be cured. Unfortunately, there is no cure for progeria. There are some experimental drugs under development. But in every way, these drugs will help people with progeria, and some cures can maybe prevent its development. Many drugs have focus on progeria symptoms, and they can help in problem treatment like osteoporosis, muscle weakness, myocardial infarction, stroke and other problems occurred in progeria disease. Other drugs have focus on inhibition of ICMT enzyme.
Another benefit from these researches is possibility of getting answers and revealing process of aging. This disease, called progeria, has maybe important answers which can help scientists to understand aging process. One of the most interesting things in progeria is thing that these patients have many symptoms like old persons, but some properties are exceptional. They have eyesight loss, osteoporosis, muscle weakness, kidney failure, wrinkled skin, atherosclerosis, and other symptoms, but they never develop cancer or dementia. When scientists figure this fact out, they could provide us some wanted, bud unfortunately unknown data of our aging process. Maybe these data could prolong our lives, or even prevent cancer and dementia development in near future.
RE: Huge Step in Progeria Understanding and Promising Treatments - lyka_candelario - 08-24-2013
It is somehow heartbreaking to know that there are a number of individuals who suffered from Progeria, 53 to be exact. But what is enlightening is that most of them had the desire to make a difference to many, one way or another.
One of the oldest known survivors of the condition is Leon Botha who was a South African hip hop artist who survived at the age of 26 before his death in June 2011. He conducted several art exhibitions presenting hip hop as his way of life. He was also a disc jockey with the DJ name Solarize.
Another contractor of the condition, Margaret “Meg” Casey, was also a journalist who wrote a column for her local newspaper. She talked about the difficulties of the handicapped for the paper and had her write-up printed in Reader’s Digest where even the President Reagan in 1981, wrote to her saying, “You are very special, Meg. Your family and friends love and admire you and you bring out awe in all you know.” She also got interested in serving on a commission for the disabled in Milford, Connecticut. Later on, she felt the urge to speak out in behalf of the younger progeria victims, “Being the oldest puts an obligation on you to be the spokesperson. I’m the only one…all the rest are children.”
Hayley Okines of England who is currently 15 years old, is one of the younger victims of progeria. She appeared on Television several times and inspired many to give funds for the study of the condition. Being a subject of such treatment, she wrote an autobiography co-authored with her mother, Kerry Okines, and contributor Alison Stokes. It was entitled, “Old Before My Time”.
Although most of the cases of mortality are directed to atherosclerosis complications, such as stroke or heart attack, people with this condition do not manifest signs commonly associated with aging, like osteoarthritis and cataract.
It is inspiring to know that there are people with such a condition yet are still able to think positively about life. Would it be possible that not only do their bodies advance faster than normal, but their maturity as well?