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Rare Genetic Disease In Children Linked To Major Cancer Gene

A relevant molecular link has been discovered between a rare childhood genetic disease and a major cancer gene. This connection could pave the way for better treatments for people who suffer from cancer, as it sheds new light on the factors that contribute to cancer development.

The research was published online in Scientific Reports on Nov. 7.

Fanconi Anemia Connected To PTEN Gene

The study connects the rare genetic childhood disease Fanconi anemia and a very important cancer gene, PTEN. According to researcher Niall Howlett from the University of Rhode Island, the disease consists of increased cancer risk, birth defects and bone marrow failure..

Howlett, an associate professor of cell and molecular biology, said genes are crucial in the development of this disease, as well as in the development of cancer. Prior to this research, the risks of developing Fanconi anemia in children were connected to the ones of developing hereditary breast and cancer.

However, this new research also suggests there is a molecular connection between this disease and PTEN, a gene that is strongly linked to brain, uterine and prostate cancer. Fanconi anemia has been the subject of various researches before this one; according to Howlett, understanding the way it works is essential when it comes to molecular behavior.

“First and foremost, there is no cure or effective treatments for it. So a greater understanding of the molecular basis of Fanconi anemia is critical to address this need,” he noted.

The researchers tested whether cells with mutation in the PTEN gene were sensitive to DNA crosslinking agents. They found that the PTEN-deficient cells and cells from Fanconi anemia patients were indistinguishable when it came to how sensitive they were to the drugs administered.

The discovery points out that the Fanconi anemia proteins and the PTEN genes work together in order to repair the DNA damage that the DNA crosslinking agents cause.

Fanconi Anemia – Rare Genetic Disease

Approximately one in 150,000 children in the United States is born suffering from Fanconi anemia. Of the people who are affected by this disease, approximately 75 percent have an associated endocrine problem that can vary in severity.

Around 60 percent of the children born with Fanconi anemia have at least one physical anomaly, such as kidney problems, skin discoloration, skeletal anomalies as well as developmental disabilities.

The disease has the name of the Swiss pediatrician who was the first to describe it, Guido Fanconi. He is also known for describing the Fanconi syndrome, which is a kidney disorder that should not be confused with Fanconi anemia.


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(Via TechTimes)