title: Detection of aldehyde dehydrogenase deficiency in Chachi Indians, Ecuador.
abstract: The activity of mitochondrial aldehyde dehydrogenase (ALDH2) was tested by isoelectric focusing of hair root extracts from 50 Chachi Indians (Ecuador). Quality of extracts and the intactness of cytoplasmic and mitochondrial enzymes were ascertained by assaying of phosphoglucomutase (PGM) and malate dehydrogenase (MDH) in the same extracts. Three of the 39 successfully assayed Chachi Indian samples showed virtual absence of the ALDH2 band on the isoelectropherogram, and the control enzymes were stained normally in these subjects. These data confirm the existence of a mitochondrial ALDH deficiency among South American Indians. The molecular origin of the ALDH2 deficiency in this population is unknown.
authors.affiliation: Laboratory of Neurogenetics, National Institute on Alcohol Abuse and Alcoholism, NIH, Rockville, MD 20852, USA.
authors.forename: A G
authors.initials: AG
authors.lastname: Novoradovsky
authors.forename: C
authors.initials: C
authors.lastname: Sandoval
authors.forename: R H
authors.initials: RH
authors.lastname: Guderian
authors.forename: P A
authors.initials: PA
authors.lastname: Zimmerman
authors.forename: T B
authors.initials: TB
authors.lastname: Nutman
authors.forename: D
authors.initials: D
authors.lastname: Goldman
mesh_terms: D000293:Adolescent; D000328:Adult; D000444:Aldehyde Dehydrogenase / Q000172:deficiency* / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004484:Ecuador / Q000208:ethnology; D005260:Female; D006197:Hair / Q000201:enzymology; D006801:Humans; D007199:Indians, South American; D007525:Isoelectric Focusing; D008291:Malate Dehydrogenase / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000201:enzymology; D010733:Phosphoglucomutase / Q000378:metabolism
chemical_list: D008291:Malate Dehydrogenase; D000444:Aldehyde Dehydrogenase; D010733:Phosphoglucomutase