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How does the A1AD gene mutation affect lung and liver health? Find out!
There are certain mutations in our genes that can cause health-related challenges, one of the most concerning is alpha 1-antitrypsin deficiency (A1AD). This is a genetic disorder that is closely related to lung and liver health. In this article, we’ll take a closer look at the mechanisms of A1AD and its impact on health.
A1AD’s background
Alpha1-antitrypsin (A1AT) is a glycoprotein mainly produced by liver cells. It is responsible for inhibiting neutral proteases and thereby protecting lung tissue from damage. The root cause of A1AD is a mutation in the SERPINA1 gene located on chromosome 14, which results in insufficient production of A1AT, which in turn affects the lungs and liver. According to reports, about 1 in 2,500 people with A1AD are affected by the disease.
How it affects lung health
Among A1AD patients, common lung problems include chronic obstructive pulmonary disease (COPD) and its variants, cranial embolism. The incidence of this disease is common between the ages of 20 and 50, and patients may experience symptoms such as shortness of breath, wheezing, and secretions even if they have no history of smoking.
“Over time, untreated A1AD patients may develop emphysema due to structural damage to the lungs.”
Effects on the liver
In addition to its effects on the lungs, A1AD may also cause liver problems. Due to the accumulation of A1AT in the liver, liver dysfunction, cirrhosis and other conditions may occur. In newborns, A1AD may even lead to severe liver disease such as premature jaundice.
"In some severe cases, A1AD has become the main reason for neonatal liver transplantation."
Diagnosis and Screening
Because the symptoms of A1AD are often similar to other respiratory or liver diseases, many patients may receive other diagnoses such as COPD without being diagnosed. Doctors will use blood tests to determine the level of A1AT. If the level is found to be lower than normal, the possibility of A1AD can be suspected.
Treatment Options
Currently, treatments for A1AD include inhaled steroids and bronchodilators, and antibiotics if infection occurs. For some severely affected patients, intravenous A1AT protein infusion therapy or liver transplantation may be considered.
Lifestyle changes
It is crucial for people with A1AD to stay away from cigarettes and to get flu and pneumococcal vaccines. According to research, if A1AD patients do not smoke, their life expectancy is almost the same as that of normal people; while the life expectancy of smokers has dropped significantly, with an average age of around 50.
Future research directions
Current research is focusing on recombinant and inhaled forms of A1AT therapy, which may be important in improving patients' quality of life and health status. However, further long-term studies are still needed to determine the effectiveness of these treatments.
Taken together, A1AD gene mutations not only have a profound impact on the lungs, but may also lead to liver disease. As a genetic disease, should we pay more attention to the potential benefits of genetic testing for early diagnosis and intervention?
