ALDH2puutos

ALDH2* variant, also known as ALDH2*2 or simply ALDH2, is a genetic variant of the aldehyde dehydrogenase 2 (ALDH2) gene. This gene is involved in the breakdown of acetaldehyde, a toxic byproduct of alcohol metabolism. The ALDH2 gene is responsible for converting acetaldehyde into acetate, which is then further broken down into carbon dioxide and water.

The ALDH2*2 variant is associated with reduced activity of the ALDH2 enzyme, leading to impaired acetaldehyde metabolism. People with this variant may experience uncomfortable or disfiguring symptoms when consuming small amounts of alcohol, such as facial flushing, nausea, and rapid heartbeat. Sweating and increased pulse rate may also occur.

This variant is relatively common in East Asian populations, particularly in China, Japan, and Korea. Studies have shown that up to 60% of Han Chinese and 80% of Japanese individuals carry the ALDH2*2 variant.

While the ALDH2*2 variant is not a disability, it can have implications for people's ability to consume alcohol in social contexts. However, it is not a justification for alcoholism, and individuals with this variant should still avoid excessive drinking.

Researchers have been interested in the ALDH2*2 variant as a potential tool in studying alcoholism. For example, studies have used the variant as a substitute for a form of "human model" to investigate the effects of environmental toxins.

In summary, the ALDH2*2 variant is a genetic variant that affects alcohol metabolism. It is relatively common in East Asian populations and can lead to unpleasant symptoms when consuming even small amounts of alcohol.