Neuroblastoma is a cancer of nervous system; it affects nervous tissue present in some of the organs like adrenal gland, neck, chest and spinal cord. Neuroblastoma occurs in childhood of an individual, it accounts for around 7% of all cancer affects during early childhood and 15% of deaths of all childhood cancer.
For the first time scientists have discovered the gene mutation, which is responsible for childhood cancer called as neuroblastoma. The same gene mutation also plays a major role in non-inherited form of the disease .The new finding makes it possible for early detection of this cancer and also disease can be treated using new ways of treatment.
Researchers at The Children's Hospital of Philadelphia have studied Nueroblastoma, which is a type of cancer affects the mankind during childhood, for the past 15 years. Recent discovery of this team is that they analyzed the DNA from 10 different families with a well documented history of Nueroblastoma. Researchers analysed this huge DNA information using high-speed automated technique.
Dr.T.P.Mosse along with other colleagues discovered that an abnormality on a region of chromosome 2 was responsible for this disease. Further studies regarding the abnormality of chromosome 2 led to the discovery of mutations in the gene known as anaplastic lymphoma kinase (ALK) in eight out of ten families with inherited form of neuroblastoma.
This discovery allows the researchers and scientists to understand the genetics of this terrible disease called as Nueroblastoma, and this discovery can also be used to find new ways of treating this disease. This discovery may help in finding effective ways of treating and curing this disease.
Anaplastic Lymphoma Kinase (ALK) Gene:
This discovery helps in understanding the nature and function of anaplastic lymphoma kinase (ALK) gene. It appears that this gene functions as an oncogene, that is anaplastic lymphoma kinase (ALK) gene is a cancer causing gene. A mutation in this gene helps in activating the gene that is gene is expressed to form neuroblastoma cell development.
This discovery that is ALK gene is responsible for the development of Nueroblastoma in children, will help in developing effective treatment for this horrible genetic disorder. Already many of the giant pharmaceutical companies have been working on chemical compounds known as ALK inhibitors. That is all these compounds inhibit the protein anaplastic lymphoma kinase activity.
Many types and varieties of ALK inhibitors are already in different stages of clinical trials for adults, as the same gene also play crucial role in other types of cancers such as lung cancer and lymphoma in adults. Mosse along with other researchers are now planning to conduct pediatric clinical trials of anaplastic lymphoma kinase inhibitors in high-risk neuroblastoma children, because now it is confirmed that the mutation in gene ALK is responsible for the disease.
Early Diagnosis and Treatment:
Most important benefit of this research is now it is possible to conduct tests for early signs of the disease. ALK mutations can be detected using non-invasive techniques such as a simple urine test and ultrasound.
By understanding the genetics of disease neuroblastoma helps in designing effective treatment methods specific to the genome of the children with neuroblastoma disease. This will improve the life expectancy and also improve quality of life of these children.
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