Best Disease: Treatment and Care Options (G7439)

Target Name: BEST1

NCBI ID: G7439

Best Disease: Treatment and Care Options

Best disease, also known asBest disease, is a rare genetic disorder that affects the body's immune system. It is characterized by a deficiency in a protein called ITGA2B, which is essential for the development and function of certain immune cells. WithoutITGA2B, the immune system is unable to recognize and fight off infections, leading to a wide range of serious health complications.

Best disease is a progressive disease that has affected thousands of people worldwide, and its severity can vary from mild to severe. However, the majority of patients experience mild to moderate symptoms, which include recurrent infections, autoimmune reactions, and fatigue.

The cause of Best disease is a deficiency in the ITGA2B gene, which is located on the X chromosome. It is estimated that around 80% of patients have two copies of the ITGA2B gene, one from each parent. However, in most cases, the ITGA2B gene is not functioning properly, leading to a deficiency in the protein ITGA2B.

ITGA2B is a protein that is expressed in many different tissues throughout the body, including the lungs, eyes, and bones. It is a key regulator of the immune system, and it helps ensure that the body is able to recognize and fight off infections.

In people with Best disease, the ITGA2B protein is not produced in the body, and they require a daily dose of an ITGA2B replacement therapy to maintain their immune system. The most common form of ITGA2B replacement therapy is an intravenous (IV)gene therapy, which is administered directly into a vein.

While there are currently no cure for Best disease, the treatment options are being constantly monitored and refined. The most common treatment is ITGA2B replacement therapy, which is given by a healthcare professional in a hospital setting. The therapy is typically given as a series of infusions, and the frequency and duration of the infusions can vary depending on the patient's needs.

Another treatment option for Best disease is gene therapy, which involves the use of a gene vector to deliver the ITGA2B gene to the patient's cells. This approach has the potential to be a more effective and targeted treatment option, but it is still in the early stages of development and has not been widely tested.

In addition to treatment, it is also important for patients with Best disease to receive proper care and support. This includes regular follow-up appointments with a healthcare professional, as well as assistance with daily living activities.

Conclusion

Best disease is a rare genetic disorder that is characterized by a deficiency in the ITGA2B protein. It is a progressive disease that can cause serious health complications, but there are currently treatment options available that can help manage the symptoms and improve quality of life. If you or someone you know has Best disease, it is important to speak with a healthcare professional to discuss treatment options and receive proper care and support.

Protein Name: Bestrophin 1

Functions: Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate

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