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The link between gene mutation and disease: Why does adenosine deaminase deficiency cause serious illness?
Adenosine deaminase (ADA) is an enzyme involved in purine metabolism, and its major functions in the human body include the development and maintenance of the immune system. However, the full physiological role of this enzyme is not fully understood. Most importantly, ADA deficiency is closely associated with serious health problems, especially severe diseases such as severe combined immunodeficiency (SCID).
Structure and function of adenosine deaminase
Adenosine deaminase exists in a small form (monomer) and a large form (dimeric complex). It contains a zinc ion in its active site, which is the only required cofactor. The enzyme's main reaction is to convert adenosine into inosine, a process that is essential for maintaining the normal functioning of cells.
Effects of adenosine deaminase deficiencyADA is considered a key enzyme in purine metabolism and is essential for the health of the immune system.
When the ADA gene mutates, causing its expression to decrease, it can cause a series of health problems. The most famous of these is SCID, a severe inherited immunodeficiency disorder. Due to the lack of ADA, adenosine levels are elevated in the body, which has a suppressive effect on the immune system and leads to high susceptibility to infection.
The consequences of adenosine deaminase deficiency can be fatal, especially in children.
Mechanism and pathological implications of mutations
The study found that conditions associated with ADA gene mutations can lead to persistent lung inflammation, thymus cell death, and defects in T cell receptor signaling. This not only makes patients more susceptible to infection, but also exacerbates chronic diseases.
ADA heteromorphism and its clinical significance
There are two isoforms of adenosine deaminase: ADA1 and ADA2. ADA1 is mainly found in lymphocytes and macrophages, while ADA2 is mainly detected in plasma. Studies have found that an increase in ADA2 is associated with the emergence of various immune diseases and cancers.
By measuring the level of ADA in plasma, not only SCID can be diagnosed, but other diseases such as tuberculosis can also be ruled out.
Treatment and future research directions
The treatment of ADA deficiency currently focuses on enzyme replacement therapy and gene therapy. Drugs such as Cladribine and Pentostatin have shown anti-tumor potential by inhibiting the activity of adenosine deaminase. The findings suggest new avenues for future research and treatment approaches.
ConclusionAdenosine deaminase plays an indispensable role in human health, and its deficiency may lead to a variety of serious diseases. As research deepens, will we be able to better understand and treat diseases related to adenosine deaminase deficiency and improve the quality of life of patients?
