ArticleEBioMedicine2020
Novel and prevalent non-East Asian ALDH2 variants; Implications for global susceptibility to aldehydes' toxicity.
Article in EBioMedicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It carries an expression of concern. Cited by 42 papers.
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42 citing papers in PubMed, 76 citations in OpenAlex.
- Common human ALDH1B1 and ALDH2 variants increase neuroinflammatory response to a single ethanol dose in mice.Science advances · 2026Article
- Evidence for early endothelial dysfunction associated with the ALDH2 rs671 gene variant: A preliminary investigation with young East Asians.Experimental physiology · 2026Article
- Increased susceptibility to 4-HNE-induced toxicity and impaired development in a model of ALDH4A1-deficient pediatric epilepsy carrying the S352L variant.Communications biology · 2026Article
- Diurnal Regulation and Gene-Specific Vulnerability of Oxidative Alcohol-Metabolizing Enzymes to Circadian Disruption.International journal of molecular sciences · 2026Article
- Correlation BetweenCardiovascular therapeutics · 2026Article
- Alcohol, aging, and the gut microbiome: Intersections of immunity, barrier dysfunction, and disease.Alcohol (Fayetteville, N.Y.) · 2025Review
- Carcinogenicity of vinyl acetate: evidence from multiple data streams.Environmental health : a global access science source · 2025Review
- Roadmap for alleviating the manifestations of ageing in the cardiovascular system.Nature reviews. Cardiology · 2025Review
- ALDH2 Enzyme Deficiency in Diabetic Cardiomyopathy.International journal of molecular sciences · 2025Review
- Through a Glass Darkly: Perceptions of Ethnoracial Identity in Artificial Intelligence Generated Medical Vignettes and Images.Medical science educator · 2025Article
- Role of Metabolism on Alcohol Preference, Addiction, and Treatment.Current topics in behavioral neurosciences · 2025Review
- Excessive alcohol consumption: a driver of metabolic dysfunction and inflammation.Frontiers in toxicology · 2025Review
- HostFrontiers in microbiology · 2025Article
- Aldehyde dehydrogenase 2 preserves kidney function by countering acrolein-induced metabolic and mitochondrial dysfunction.JCI insight · 2024Article
- Aldehydes alter TGF-β signaling and induce obesity and cancer.Cell reports · 2024Article
- Endogenous ethanol production in health and disease.Nature reviews. Gastroenterology & hepatology · 2024Review
- Genome analysis of a newly isolated Bacillus velezensis-YW01 for biodegrading acetaldehyde.Biodegradation · 2024Article
- Uncovering newly identified aldehyde dehydrogenase 2 genetic variants that lead to acetaldehyde accumulation after an alcohol challenge.Journal of translational medicine · 2024Article
- Dietary Patterns and Lifestyle Factors Associated with the Risk of Colorectal Cancer: A Hospital-Based Case-Control Study among Malaysians.The Malaysian journal of medical sciences : MJMS · 2024Article
- A Common East Asian aldehyde dehydrogenase 2*2 variant promotes ventricular arrhythmia with chronic light-to-moderate alcohol use in mice.Communications biology · 2023Article
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Authors and funding
13 authors at 5 institutions in 5 countries.
Funding
Abstract
backgroundAldehyde dehydrogenase 2 (ALDH2) catalyzes the detoxification of aliphatic aldehydes, including acetaldehyde. About 45% of Han Chinese (East Asians), accounting for 8% of humans, carry a single point mutation in ALDH2*2 (E504K) that leads to accumulation of toxic reactive aldehydes.
methodsSequencing of a small Mexican cohort and a search in the ExAC genomic database for additional ALDH2 variants common in various ethnic groups was set to identify missense variants. These were evaluated in vitro, and in cultured cells expressing these new and common variants.
findingsIn a cohort of Hispanic donors, we identified 2 novel mutations in ALDH2. Using the ExAC genomic database, we found these identified variants and at least three other ALDH2 variants with a single point mutation among Latino, African, South Asian, and Finnish ethnic groups, at a frequency of >5/1000. Although located in different parts of the ALDH2 molecule, these common ALDH2 mutants exhibited a significant reduction in activity compared with the wild type enzyme in vitro and in 3T3 cells overexpressing each of the variants, and a greater ethanol-induced toxicity. As Alda-1, previously identified activator, did not activate some of the new mutant ALDH2 enzymes, we continued the screen and identified Alda-64, which is effective in correcting the loss of activity in most of these new and common ALDH2 variants.
interpretationSince ~80% of the world population consumes ethanol and since acetaldehyde accumulation contributes to a variety of diseases, the identification of additional inactivating variants of ALDH2 in different ethnic groups may help develop new 'precision medicine' for carriers of these inactive ALDH2.
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