Article
Novel and prevalent non-East Asian ALDH2 variants; Implications for global susceptibility to aldehydes' toxicity.
EBioMedicine - 1 May 2020
Chen Che-Hong, Ferreira Julio C B, Joshi Amit U, Stevens Matthew C, Li Sin-Jin, Hsu Jade H-M, Maclean Rory, Ferreira Nikolas D, Cervantes Pilar R, Martinez Diana D, Barrientos Fernando L, Quintanares Gibran H R, Mochly-Rosen Daria
Abstract excerpt
BACKGROUND: Aldehyde 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. METHODS: Sequencing of a small Mexican cohort and a search in the ExAC genomic database for additional ALDH2 variants...
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