Study Finds Gene Linked to Blood Diseases, Cancer

A gene that plays a crucial role in blood cell maturation can mutate and cause cancer to develop.

Scientists have discovered a specific gene that plays an important role in the development of blood cells may also cause blood diseases and disorders. The Pi4Ka gene is necessary for blood cell growth, but it can also cause various types of blood cancer and anemia when disrupted, according to a study published by Cell Reports.

The study authors discovered the gene’s effect on blood diseases and were able to identify a target to create new treatments for leukemia, anemia, and other blood disorders.

Many gene mutations connected to cancers of the blood and lymphatic system are well-known, according to the authors.

When the Pi4Ka gene functions normally, it aids in the growth and maturation of blood cells, but researchers are still unclear what causes the mutation.

To determine this, the authors began investigating blood cell production from the earliest stages of development. Blood cells are first seen in specific embryotic sites called hemogenic endothelium.

The goal of the study was to detect regulatory genes that result in disease when mutated in order to find a treatment that targets these genes, according to the authors.

Scientists began tracing back mutations to discover their origin and they found many familiar disease-causing genes. They identified a new gene, however, that they found led to diseases of the blood: Pi4Ka.

In investigating Pi4Ka in several animal and cell models, the researchers determined that the gene was crucial for the development of blood cells. When mutated, blood cells were no longer able to mature, resulting in diseases such as anemia, according to the study.

The authors were able to determine the role of Pi4Ka during the red blood cell differentiation stage of hematopoiesis, with mutations leading to erythroid and myeloid malignancies. The study also found a strong connection between specific mutations of the gene and the onset of cancer.

The researchers said they intend to analyze Pi4Ka as a target for future treatments.

Although further studies are needed, these findings highlight a potential preventative or treatment target for certain blood diseases, including cancer.