Sorry, you need to enable JavaScript to visit this website.

New insight into genetic mutation may revolutionise bladder cancer treatment

Read time: 4 mins
New insight into genetic mutation may revolutionise bladder cancer treatment

Among the various types of cancer, Urothelial Bladder Cancer (UBC) is responsible for around 2 lakh deaths per year around the world. This cancer affects the inner lining of the bladder and is the most common form of bladder cancer. It usually affects aged individuals, with blood in urine and painful urination as the first sign of its manifestation. Conventional methods of treatment involve surgical removal of cancerous tissue in the bladder and chemotherapy. However, they do not prevent the recurrence of UBC.

In a recent study, a team of researchers from the Institute of Bioinformatics, Bengaluru, Manipal Academy of Higher Education (MAHE), Manipal, Med Genome Labs Ltd., Bengaluru, and Post Graduate   Institute   of   Medical   Education   and   Research   (PGIMER),   Chandigarh,   have   studied urothelial bladder cancer in a 19-year old individual to improvise possible treatment options. The study,   published   in   the   journal  Frontiers in Oncology,   was   funded   by   the   Department  of Biotechnology (DBT) and the Department of Science and Technology (DST). The researchers were particularly interested in investigating the genetic mutations that result in urothelial bladder cancer in an young adult.

The 19-year old boy they studied had no previous family history of cancer.

"Our study aimed to find if UBC follows a similar trend as seen with the aged, or if it follows a different path in young adults. If different, we wanted to know how," says Prof. Prashant Kumar, Faculty Scientist at the Institute of Bioinformatics, Bengaluru. His research team included Dr. Jyoti Sharma, Barnali Deb and Irene A. George. “Our study might bea starting point for others to follow," he adds.

The researchers identified somatic mutations—mutations that occur in all the cells of the body except reproductive cells—using an advanced gene sequencing technique.The researchers isolated DNA from tumour and blood samples of the patient and subjected them to a process called whole-exome sequencing. This method allows the sequencing of all exomes—portions of the DNA coding for a particular protein. These exomes harbour majority of genetic mutations, which may result in advanced and metastatic progression of cancer.

"The study was highly challenging especially in obtaining the patient's sample and keeping track of follow-up onthe survival was a difficult task to achieve," shares Prof Prashant.

The study found mutations in potential 'driver genes' like TP53, along with those involved in ion channel   transportation.   Driver   genes   are   genes   that   drive   a   cell   to   undergo   unregulated cell divisions, and ion channels allow  selective passage of ions necessary for body functions. The researchers predicted that among all mutations, there are eight with the likelihood of driving the cells towards cancerous growth. Interestingly, they also found mutations in a gene called RB1, which   is   associated   with   the   death   of   the   individual   with   UBC.   Further   analysis   revealed mutations in 18 genes, which take part in activities of ion-channels.

Many  studies  in  the   past  have  shown  the  role   of  ion  channels  in  the   development   of  cancer. However, few have identified them as an anti-cancer therapeutic target. The inhibition of certain types of ion channels helps treat breast and pancreatic cancer. While in others, like lung cancer, prostate cancer and melanoma, blocking these ion channels stops cell multiplication. Therefore, obstructing ion channels like calcium and sodium-potassium could be promising drug designing options against UBC, as these channels regulate the growth and multiplication of cells.

While UBC is known to occur commonly among individuals in their sunset years, affecting a young individual without any family history is an unusual phenomenon. This study attempts to investigate the reasons and highlight novel therapeutic target against UBC.


This article has been run past the researchers, whose work is covered, to ensure accuracy.