Drug or a gene therapy can be developed to control abnormal protein (AKT) activity responsible for uncontrolled body parts in Proteus Syndrome.
Life goes on with the hope of better tomorrow and our scientists and institutions too are tested by challenges of finding a treatment for diseases which still do not have any medicine or treatment to treat life threatening diseases, one of such disease is Proteus Syndrome.
It’s a great pain for parents and relatives of a child who’s body do not grow in the proportion it has to grow as normal, some children’s one limb grow larger than other or a hand palm growing in to its size beyond control, such disease also bring about deformities in bones and many times require amputation leading to permanent disability, one of such disease is known Proteus Syndrome.
Scientists from United States, National institute of health’s National Human Genome Research Institute (NHGRI) have found out the gene responsible for the Proteus Syndrome, after analyzing regions on DNA and exoms by whole-exome sequencing from affected patient and their family member , it was observed that a misspelled region in gene was found to be responsible for mutation.This misspelled gene is called as AKT1 which is also responsible for cancerous growths.It was also found that AKT proteins were more active in tissues of affected patients, with defective gene than in normal, the affected gene was also compared with huge DNA sequence data in libraries, and with affected patients, defective gene was a peculiar in affected patients only.Proteus Syndrome is believed to be developed after a spontaneous mutation in the gene.
There are now new possibilities open for such patients to treat them with gene therapy to replace affected gene, a drug can be developed to arrest the activity of AKT proteins in affected patients.
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