A recent discovery by a consortium of researchers, has given hope to individuals with amyotrophic lateral sclerosis (ALS), aka Lou Gehrig's disease. Headed by professors at the University of Massachusetts’ Medical School, the breakthrough relates to the discovery of the KIFAP3 gene variant, which substantially improves survival of individuals with the disease.
Reported in the Proceedings of the National Academy of Sciences the discovery of the KIFAP3 gene is an important and vital step in the understanding and possible future treatment of the disease. The Gene itself has been identified by the researches as being a genetic factor that determines the rate of progression in individuals with ALS; it represents the first of the only four known genes associated with causing familial ALS that has been linked to this rate of progression.
The discovery and isolation of the KIFAP3 gene was as a result of an international collaboration between more than 20 research teams from the U.S., Mexico, Israel and Europe that studied around 1800 people with ALS and 2200 unaffected controls. The researchers were looking for a naturally occurring gene variation that would influence a person’s susceptibility and the way that the disease manifested itself over time. This led the researches to the KIFAP3 gene, which was found to increase a person’s survival time by 40 – 50%. Due to the only recent discovery of this gene, researchers have yet to isolate specifically the way in which the gene variant affects the progression of ALS, however they know that its in involved with many cellular processes most specifically the transport of molecules within the nerve cells.
The hope in this discovery is that with further study not only can this gene lead to a better understanding of the progression of the condition itself but that it will also allow development of new treatments to combat the disease. Whereby treatments can be tailored to target and exploit the benefits of this gene variant. Especially as the collaboration showed that the variant by itself was comparable in effectiveness to the only available drug in the US, Riluzole.
ALS is a ‘progressive, neurodegenerative disorder affecting the motor neurons in the central nervous system. As motor neurons die, the brain's ability to send signals to the body's muscles is compromised. This leads to loss of voluntary muscle movement, paralysis and eventually death from respiratory failure’ it has no definitive cause and no cure - http://www.medicalnewstoday.com/articles/149766.php
References –
- http://www.medicalnewstoday.com/articles/149766.php
- Proceedings of the National Academy of Sciences
Reported in the Proceedings of the National Academy of Sciences the discovery of the KIFAP3 gene is an important and vital step in the understanding and possible future treatment of the disease. The Gene itself has been identified by the researches as being a genetic factor that determines the rate of progression in individuals with ALS; it represents the first of the only four known genes associated with causing familial ALS that has been linked to this rate of progression.
The discovery and isolation of the KIFAP3 gene was as a result of an international collaboration between more than 20 research teams from the U.S., Mexico, Israel and Europe that studied around 1800 people with ALS and 2200 unaffected controls. The researchers were looking for a naturally occurring gene variation that would influence a person’s susceptibility and the way that the disease manifested itself over time. This led the researches to the KIFAP3 gene, which was found to increase a person’s survival time by 40 – 50%. Due to the only recent discovery of this gene, researchers have yet to isolate specifically the way in which the gene variant affects the progression of ALS, however they know that its in involved with many cellular processes most specifically the transport of molecules within the nerve cells.
The hope in this discovery is that with further study not only can this gene lead to a better understanding of the progression of the condition itself but that it will also allow development of new treatments to combat the disease. Whereby treatments can be tailored to target and exploit the benefits of this gene variant. Especially as the collaboration showed that the variant by itself was comparable in effectiveness to the only available drug in the US, Riluzole.
ALS is a ‘progressive, neurodegenerative disorder affecting the motor neurons in the central nervous system. As motor neurons die, the brain's ability to send signals to the body's muscles is compromised. This leads to loss of voluntary muscle movement, paralysis and eventually death from respiratory failure’ it has no definitive cause and no cure - http://www.medicalnewstoday.com/articles/149766.php
References –
- http://www.medicalnewstoday.com/articles/149766.php
- Proceedings of the National Academy of Sciences
0 件のコメント:
コメントを投稿