Gene ALDH2
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Also known as
ALDM, ALDHI, ALDH-E2Overview
ALDH2 (Aldehyde Dehydrogenase 2 Family Member) encodes the primary mitochondrial enzyme responsible for metabolizing acetaldehyde, the toxic intermediate produced during alcohol breakdown. This enzyme is critical for efficient alcohol metabolism and protection against acetaldehyde toxicity.The ALDH2*2 variant (rs671, Glu504Lys) is one of the most clinically significant human genetic polymorphisms, affecting approximately 40% of East Asian populations. This variant dramatically reduces enzyme activity, leading to acetaldehyde accumulation after alcohol consumption. Symptoms include facial flushing, nausea, rapid heartbeat, and headache - collectively known as "Asian flush" or alcohol flushing syndrome.
Individuals with the ALDH2*2 variant who drink alcohol have significantly increased risk of esophageal cancer and other upper digestive tract cancers due to prolonged acetaldehyde exposure. Understanding your ALDH2 status is important for making informed decisions about alcohol consumption and cancer risk assessment.