Analysis of the Qatari R336C cystathionine β-synthase protein in mice.

ABSTRACT: Classical homocystinuria is a recessive inborn error of metabolism caused by mutations in the cystathionine beta-synthase (CBS) gene. The highest incidence of CBS deficiency in the world is found in the country of Qatar due to the combination of high rates of consanguinity and the presence of a founder mutation, c.1006C>T (p.R336C). This mutation does not respond to pyridoxine and is considered severe. Here we describe the creation of a mouse that is null for the mouse Cbs gene and expresses human p.R336C CBS from a zinc-inducible transgene (Tg-R336C Cbs ^-/- ). Zinc-treated Tg-R336C Cbs ^-/- mice have extreme elevation in both serum total homocysteine (tHcy) and liver tHcy compared with control transgenic mice. Both the steady-state protein levels and CBS enzyme activi

SUBMITTER: Gupta S 

PROVIDER: S-EPMC7336392 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature