Alpha-1 antitrypsin: Difference between revisions
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==Alpha-1 Antitrypsin== | |||
'''Alpha-1 antitrypsin''' (A1AT) is a [[protein]] produced in the [[liver]] that plays a crucial role in protecting the [[lungs]] from damage caused by [[enzyme]]s such as [[neutrophil elastase]]. It is a member of the [[serpin]] (serine protease inhibitor) superfamily and is encoded by the [[SERPINA1]] gene. | |||
==Function== | |||
Alpha-1 antitrypsin is primarily responsible for inhibiting the activity of neutrophil elastase, an enzyme that can degrade [[elastin]] and other components of the [[extracellular matrix]] in the lungs. By inhibiting this enzyme, A1AT helps maintain the structural integrity of the lung tissue and prevents excessive [[inflammation]] and [[tissue damage]]. | |||
==Genetics== | |||
The [[SERPINA1]] gene, located on [[chromosome 14]], encodes the alpha-1 antitrypsin protein. There are several alleles of this gene, with the most common being the normal M allele. Variants such as the Z and S alleles can lead to reduced levels of functional A1AT, resulting in a condition known as [[alpha-1 antitrypsin deficiency]]. | |||
==Alpha-1 Antitrypsin Deficiency== | |||
Alpha-1 antitrypsin deficiency is a genetic disorder that can lead to [[chronic obstructive pulmonary disease]] (COPD) and [[liver disease]]. Individuals with this deficiency have lower levels of A1AT, which results in unchecked activity of neutrophil elastase and subsequent lung damage. The deficiency is inherited in an [[autosomal codominant]] pattern. | |||
===Symptoms=== | |||
Symptoms of alpha-1 antitrypsin deficiency can include shortness of breath, wheezing, chronic cough, and [[jaundice]]. The condition can lead to [[emphysema]] and [[cirrhosis]] of the liver. | |||
===Diagnosis=== | |||
Diagnosis of alpha-1 antitrypsin deficiency is typically made through blood tests that measure the level of A1AT in the blood and genetic testing to identify mutations in the [[SERPINA1]] gene. | |||
===Treatment=== | |||
Treatment options for alpha-1 antitrypsin deficiency include [[augmentation therapy]] with purified A1AT, lifestyle changes such as smoking cessation, and management of symptoms with [[bronchodilators]] and [[corticosteroids]]. In severe cases, [[lung transplantation]] or [[liver transplantation]] may be considered. | |||
==Related Pages== | |||
* [[Chronic obstructive pulmonary disease]] | |||
* [[Liver disease]] | |||
* [[Genetic disorder]] | |||
* [[Serpin]] | |||
{{Medical resources}} | |||
[[Category:Proteins]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Pulmonology]] | |||
[[Category:Hepatology]] | |||
Latest revision as of 00:39, 19 February 2025
Alpha-1 antitrypsin[edit]
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Labelled diagram of Alpha-1 antitrypsin -
Structure of Alpha-1 antitrypsin
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Alpha-1 antitrypsin[edit]
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Alpha 1-antitrypsin (labelled)
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Alpha-1 antitrypsin
Alpha-1 Antitrypsin[edit]
Alpha-1 antitrypsin (A1AT) is a protein produced in the liver that plays a crucial role in protecting the lungs from damage caused by enzymes such as neutrophil elastase. It is a member of the serpin (serine protease inhibitor) superfamily and is encoded by the SERPINA1 gene.
Function[edit]
Alpha-1 antitrypsin is primarily responsible for inhibiting the activity of neutrophil elastase, an enzyme that can degrade elastin and other components of the extracellular matrix in the lungs. By inhibiting this enzyme, A1AT helps maintain the structural integrity of the lung tissue and prevents excessive inflammation and tissue damage.
Genetics[edit]
The SERPINA1 gene, located on chromosome 14, encodes the alpha-1 antitrypsin protein. There are several alleles of this gene, with the most common being the normal M allele. Variants such as the Z and S alleles can lead to reduced levels of functional A1AT, resulting in a condition known as alpha-1 antitrypsin deficiency.
Alpha-1 Antitrypsin Deficiency[edit]
Alpha-1 antitrypsin deficiency is a genetic disorder that can lead to chronic obstructive pulmonary disease (COPD) and liver disease. Individuals with this deficiency have lower levels of A1AT, which results in unchecked activity of neutrophil elastase and subsequent lung damage. The deficiency is inherited in an autosomal codominant pattern.
Symptoms[edit]
Symptoms of alpha-1 antitrypsin deficiency can include shortness of breath, wheezing, chronic cough, and jaundice. The condition can lead to emphysema and cirrhosis of the liver.
Diagnosis[edit]
Diagnosis of alpha-1 antitrypsin deficiency is typically made through blood tests that measure the level of A1AT in the blood and genetic testing to identify mutations in the SERPINA1 gene.
Treatment[edit]
Treatment options for alpha-1 antitrypsin deficiency include augmentation therapy with purified A1AT, lifestyle changes such as smoking cessation, and management of symptoms with bronchodilators and corticosteroids. In severe cases, lung transplantation or liver transplantation may be considered.
