Arg213Gly

Arg213Gly is a specific amino acid substitution found in the human gene encoding the protein alpha-1 antitrypsin (AAT). The term "Arg213Gly" refers to the replacement of the arginine (Arg) amino acid at position 213 with glycine (Gly). This substitution is one of several known genetic variants of AAT, which is a crucial protein involved in protecting the lungs from damage by proteases, such as those found in cigarette smoke.

The Arg213Gly variant is associated with a reduced stability of the AAT protein, leading to a shorter half-life in the body. This can result in a deficiency of AAT, which is a condition known as alpha-1 antitrypsin deficiency (AATD). AATD is a genetic disorder that can cause severe lung damage, particularly in individuals who are heavy smokers or exposed to other environmental factors that produce proteases.

The Arg213Gly variant is relatively common, accounting for approximately 10-15% of cases of AATD. It is inherited in an autosomal codominant manner, meaning that a single copy of the variant allele can lead to a deficiency of AAT. Individuals with the Arg213Gly variant may experience symptoms such as chronic bronchitis, emphysema, and liver disease, depending on the severity of their AAT deficiency.

Diagnosis of the Arg213Gly variant typically involves genetic testing, which can identify the specific amino acid substitution in the AAT gene. Treatment options for individuals with AATD, including those with the Arg213Gly variant, may include regular administration of recombinant human AAT (rhAAT) to supplement the deficient protein. Early diagnosis and intervention can help manage symptoms and prevent the progression of lung damage.