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Developmental defects in a Caenorhabditis elegans model for type III galactosemia.

ABSTRACT: Type III galactosemia is a metabolic disorder caused by reduced activity of UDP-galactose-4-epimerase, which participates in galactose metabolism and the generation of various UDP-sugar species. We characterized gale-1 in Caenorhabditis elegans and found that a complete loss-of-function mutation is lethal, as has been hypothesized for humans, whereas a nonlethal partial loss-of-function allele causes a variety of developmental abnormalities, likely resulting from the impairment of the glycosylation process. We also observed that gale-1 mutants are hypersensitive to galactose as well as to infections. Interestingly, we found interactions between gale-1 and the unfolded protein response.

SUBMITTER: Brokate-Llanos AM

PROVIDER: S-EPMC4256771 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature

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Developmental defects in a Caenorhabditis elegans model for type III galactosemia.

Brokate-Llanos Ana M AM Monje José M JM Murdoch Piedad Del Socorro Pdel S Muñoz Manuel J MJ

Genetics 20141008 4

Type III galactosemia is a metabolic disorder caused by reduced activity of UDP-galactose-4-epimerase, which participates in galactose metabolism and the generation of various UDP-sugar species. We characterized gale-1 in Caenorhabditis elegans and found that a complete loss-of-function mutation is lethal, as has been hypothesized for humans, whereas a nonlethal partial loss-of-function allele causes a variety of developmental abnormalities, likely resulting from the impairment of the glycosylat ...[more]

PMID: 25298520

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