Hyperkeratosis in cystathionine beta synthase-deficient mice: an animal model of hyperhomocysteinemia.
Cystathionine beta synthase (CBS) is a crucial regulator of plasma concentrations of homocysteine. Severe hyperhomocysteinemia due to CBS deficiency confers diverse clinical manifestations. Patients with severe hyperhomocysteinemia have fine hair and thin skin, but it is unclear whether these changes are related to CBS deficiency or are coincidental. To investigate these aspects of hyperhomocysteinemia, we characterized skin abnormalities of CBS-deficient mice, a murine model of severe hyperhomocysteinemia. Histological and histomorphometric analyses revealed that CBS-deficient mice have wrinkled skin with hyperkeratinosis of the epidermis and thinning of the dermis.
Robert
Karine
K
EA 3508, University of Paris 7, Denis Diderot, 75251 Paris 05, France.
Maurin
Nicole
N
Ledru
Aurélie
A
Delabar
Jean
J
Janel
Nathalie
N
D000818:Animals; D003541:Cystathionine beta-Synthase / Q000235:genetics / Q000502:physiology*; D006579:Heterozygote; D006710:Homocysteine / Q000097:blood; D006720:Homozygote; D020138:Hyperhomocysteinemia / Q000201:enzymology / Q000235:genetics / Q000473:pathology*; D007642:Keratosis / Q000201:enzymology* / Q000473:pathology*; D051379:Mice; D018345:Mice, Knockout
D006710:Homocysteine; D003541:Cystathionine beta-Synthase